Updated on 2026/02/19

写真a

 
AWAYA TOMONARI
 
Organization
Graduate School of Medicine Department of Basic Medical Science Professor
School of Medicine Department of Medical Science
Title
Professor
Affiliation
Institute of Medcine
Affiliation campus
Abeno Campus

Position

  • Graduate School of Medicine Department of Basic Medical Science 

    Professor  2026.01 - Now

  • School of Medicine Department of Medical Science 

    Professor  2026.01 - Now

Degree

  • 博士（医学） （ Kyoto University ）

Research Areas

  • Life Science / Developmental biology

  • Life Science / Genetics

  • Life Science / Anatomy

  • Life Science / Embryonic medicine and pediatrics

  • Life Science / Neuroscience-general

Research Interests

  • embryonic stem cells

  • induced pluripotent stem cells

  • pediatrics

  • medical genetics

  • rare diseases

  • congenital disorders

  • inherited metabolic disorders

  • pediatric neurology

  • neuromuscular disorders

  • development

  • 発生

  • regenerative medicine

  • gender

  • skeletal muscle

  • 神経

Professional Memberships

  • The Japanese Association of Anatomists

  • 日本小児科学会

  • THE JAPANESE SOCIETY OF CHILD NEUROLOGY

  • THE JAPAN SOCIETY OF HUMAN GENETICS

  • 日本遺伝子診療学会

  • The Japan Society of Pediatric Genetics

  • JAPANESE TERATOLOGY SOCIETY

  • JAPANESE SOCIETY FOR INHERITED METABOLIC DISEASES

  • JAPAN EPILEPSY SOCIETY

  • THE JAPANAESE SOCIETY OF INFLAMMATION AND REGENERATION

  • アメリカ人類遺伝学会

  • International Child Neurology Society

  • World Muscle Society

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Job Career (off-campus)

  • Kyoto University Graduate School of Medicine   Center for Anatomical, Pathological, and Forensic Medical Researches   Associate Professor

    2023.10 - 2026.03

  • Kyoto University Graduate School of Medicine   Laboratory of Tumor Microenvironment and Immunity   Junior Associate Professor

    2021.04 - 2023.09

  • University of California, San Diego   Department of Medicine   Visiting scholar

    2019.08 - 2020.08

  • Kyoto University Graduate School of Medicine   Translational Research Department for Skin and Brain Diseases   Assistant Professor

    2017.04 - 2021.03

  • Kyoto University Graduate School of Medicine   Department of Anatomy and Developmental Biology   Assistant Professor

    2016.07 - 2017.03

  • Kyoto University Graduate School of Medicine   Department of Pediatrics   Assistant Professor

    2010.05 - 2016.06

  • Kyoto University Hospital   Department of Pediatrics   Staff Physician

    2005.04 - 2007.03

  • Nagoya City University Hospital   Pediatrics   Resident

    2003.04 - 2005.03

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Papers

  • Roles of a Drosophila ADAM 10 Transmembrane Metalloprotease, Kuzbanian, in Tissue Architecture and Function of the Adult Adipose Tissue

    Hayashi Y.

    Genes to Cells   31 ( 1 )   e70084   2026.01（ ISSN:13569597 ）

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  • Therapeutic development of RNA splicing modulator for Fabry disease GLA c.640-801G>A variant

    Awaya Tomonari

    NO TO HATTATSU   57 ( 3 )   203 - 207   2025.05（ ISSN:00290831 ） （ eISSN:18847668 ）

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  • Invention of an oral medication for cardiac Fabry disease caused by RNA mis-splicing

    Awaya T.

    Science Advances   11 ( 15 )   eadt9695   2025.04

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  • Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies

    Seung-Ah Lee, Megumu Ogawa, Yoshihiko Saito, Rui Shimazaki, Tomonari Awaya, Motoyasu Hosokawa, Ryo Kurosawa, Hiroaki Ohara, Akihide Takeuchi, Shinichiro Hayashi, Yu-ichi Goto, Masatoshi Hagiwara, Ichizo Nishino, Satoru Noguchi

    Genetics in Medicine   27 ( 7 )   101431 - 101431   2025.04（ ISSN:1098-3600 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.gim.2025.101431

    PubMed

  • 【自己炎症性疾患2025-最新の基礎・臨床知見-】狭義の自己炎症性疾患　I型インターフェロン症　Aicardi-Goutieres症候群8,9

    北城 恵史郎, 粟屋 智就, 西小森 隆太

    日本臨床   83 ( 2 )   198 - 205   2025.02（ ISSN:0047-1852 ）

  • Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy

    Rui Shimazaki, Yoshihiko Saito, Tomonari Awaya, Narihiro Minami, Ryo Kurosawa, Motoyasu Hosokawa, Hiroaki Ohara, Shinichiro Hayashi, Akihide Takeuchi, Masatoshi Hagiwara, Yukiko K. Hayashi, Satoru Noguchi, Ichizo Nishino

    Orphanet Journal of Rare Diseases   20 ( 1 )   1   2025.01（ eISSN:1750-1172 ）

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    Publishing type：Research paper (scientific journal)  

    Abstract

    Background

    Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.

    Methods

    Clinical course and pathological findings were retrospectively reviewed in Japanese patients with SGP. Genetic analyses were performed using a combination of targeted resequencing with a hereditary muscle disease panel, whole genome sequencing, multiplex ligation-dependent probe amplification, and long-read sequencing. The structures of transcripts with aberrant splicing were also determined by RT-PCR, RNA-seq, and in silico prediction.

    Results

    We identified biallelic variants in SGC genes in 53 families, including three families with LGMDR6, which had not been identified in Japan so far. SGCA was the most common causative gene, accounting for 56% of cases, followed by SGCG, SGCB, and SGCD, at 17%, 21%, and 6%, respectively. Missense variants in SGCA were very frequent at 78.3%, while they were relatively rare in SGCB, SGCG, and SGCD at 11.1%, 18.2%, and 16.6%, respectively. We also analyzed the haplotypes of alleles carrying three variants found in multiple cases: c.229C > T in SGCA, c.325C > T in SGCB, and exon 6 deletion in SGCG; two distinct haplotypes were found for c.229C > T in SGCA, while each of the latter two variants was on single haplotypes.

    Conclusions

    We present genetic profiles of Japanese patients with SGPs. Haplotype analysis indicated common ancestors of frequent variants. Our findings will support genetic diagnosis and gene therapy.

    DOI： 10.1186/s13023-024-03521-2

    PubMed

    Other URL： https://link.springer.com/article/10.1186/s13023-024-03521-2/fulltext.html

  • Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies

    Awaya T.

    Journal of Human Genetics   2025（ ISSN:14345161 ）

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  • Case Report: Long-term suppression of relapses by dimethyl fumarate in a relapsing pediatric patient with myelin oligodendrocyte glycoprotein antibody–associated disease manifesting as acute disseminated encephalomyelitis, unilateral optic neuritis, and seizure episodes

    Tahara M.

    Frontiers in Immunology   16   1551379   2025

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  • Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD Reviewed

    Rasha El Sherif, Yoshihiko Saito, Tomonari Awaya, Satoru Noguchi, Ichizo Nishino

    Neurology Genetics   10 ( 2 )   2024.04

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1212/NXG.0000000000200137

  • Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

    Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki

    Scientific Reports   14 ( 1 )   6506   2024.03（ eISSN:2045-2322 ）

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    Publishing type：Research paper (scientific journal)  

    Abstract

    Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-year-old female patient with BPAN and show that antisense oligonucleotide (ASO) was effective in vitro. The patient had developmental delay and later showed extrapyramidal signs since the age of 15 years. MRI findings showed iron deposition in the globus pallidus and substantia nigra on T2 MRI. Whole genome sequencing and RNA sequencing revealed generation of pseudoexon due to inclusion of intronic sequences triggered by an intronic variant that is remote from the exon–intron junction: WDR45 (OMIM #300526) chrX(GRCh37):g.48935143G > C, (NM_007075.4:c.235 + 159C > G). We recapitulated the exonization of intron sequences by a mini-gene assay and further sought antisense oligonucleotide that induce pseudoexon skipping using our recently developed, a dual fluorescent splicing reporter system that encodes two fluorescent proteins, mCherry, a transfection marker designed to facilitate evaluation of exon skipping and split eGFP, a splicing reaction marker. The results showed that the 24-base ASO was the strongest inducer of pseudoexon skipping. Our data presented here have provided supportive evidence for in vivo preclinical studies.

    DOI： 10.1038/s41598-024-56704-z

    PubMed

    Other URL： https://www.nature.com/articles/s41598-024-56704-z

  • アンチセンス核酸薬による異常スプライシング是正　WDR45の偽エクソン形成に対するアプローチ

    山田 茉未子, 前田 和宏, 鈴木 寿人, 武内 俊樹, 粟屋 智就, 黒澤 凌, 網代 将彦, 萩原 正敏, 竹内 敦子, 西尾 久英, 宮 冬樹, 松尾 雅文, 小崎 健次郎

    日本小児科学会雑誌   128 ( 2 )   229 - 229   2024.02（ ISSN:0001-6543 ）

  • Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

    Masahiro Hirai, Ayaka Ikeda, Takeo Kato, Takahiro Ikeda, Kosuke Asada, Yoko Hakuno, Kanae Matsushima, Tomonari Awaya, Shin Okazaki, Toshihiro Kato, Toshio Heike, Masatoshi Hagiwara, Takanori Yamagata, Kiyotaka Tomiwa, Ryo Kimura

    Journal of autism and developmental disorders   55 ( 6 )   2092 - 2099   2024.01（ ISSN:01623257 ）

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    PURPOSE: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder. METHODS: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups. RESULTS: The Severity Analysis revealed a significant group difference in Sensory Sensitivity but not in Low Registration, Sensation Seeking, and Sensation Avoiding subscales. Age can modulate the subscale scores differently across groups. For Sensation Seeking, the scores of both groups decreased with development. However, the scores of Sensory Sensitivity decreased with age in the autistic group but not in the WS group. Sensation Avoiding scores increased with development in the WS group but not in the autistic group. No significant developmental changes were observed in Low Registration. CONCLUSION: This study highlights the cross-syndrome similarities and differences in sensory profiles and developmental changes in autistic individuals and individuals with WS.

    DOI： 10.1007/s10803-023-06205-1

    PubMed

  • 【小児神経疾患の新しい治療の扉を開く】稀少疾患の治療開発　疾患研究から創薬研究への橋渡し

    粟屋 智就

    脳と発達   56 ( 1 )   24 - 32   2024.01（ ISSN:0029-0831 ）

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    小児神経診療で遭遇する稀少疾患の患者に対して,私たち小児神経科医が出来ることは,これまでほとんど対症療法のみであった.ここ数年,脊髄性筋萎縮症やDuchenne型筋ジストロフィーなどで画期的な治療法が実用化され,稀少疾患の治療薬開発が注目を集めている.本稿では,近年承認されたそれらの薬剤についてその特長について述べるとともに,従来の薬剤開発とそれらの薬剤開発の手法の違い,稀少疾患研究を実際の治療薬につなげるために必要な創薬開発のステップ等について概観し,私たち小児神経科医が出来ることを考えてみたいと思う.(著者抄録)

  • Therapeutic development against rare genetic disorders―bridging disease research to drug discovery

    Awaya Tomonari

    NO TO HATTATSU   56 ( 1 )   24 - 32   2024（ ISSN:00290831 ） （ eISSN:18847668 ）

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  • Chromosome microarray analysis for clinical diagnostic testing

    Awaya Tomonari

    NO TO HATTATSU   56 ( 4 )   259 - 265   2024（ ISSN:00290831 ） （ eISSN:18847668 ）

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  • PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

    Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara

    BMC Genomics   24 ( 1 )   2023.10（ eISSN:1471-2164 ）

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    Publishing type：Research paper (scientific journal)  

    Abstract

    Background

    Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,500,000 variants per individual) represents a technical challenge to researchers. Thus, we developed a Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing (PDIVAS) to easily detect pathogenic deep-intronic variants.

    Results

    PDIVAS was trained on an ensemble machine-learning algorithm to classify pathogenic and benign variants in a curated dataset. The dataset consists of manually curated pathogenic splice-altering variants (SAVs) and commonly observed benign variants within deep introns. Splicing features and a splicing constraint metric were used to maximize the predictive sensitivity and specificity, respectively. PDIVAS showed an average precision of 0.92 and a maximum MCC of 0.88 in classifying these variants, which were the best of the previous predictors. When PDIVAS was applied to genome sequencing analysis on a threshold with 95% sensitivity for reported pathogenic SAVs, an average of 27 pathogenic candidates were extracted per individual. Furthermore, the causative variants in simulated patient genomes were more efficiently prioritized than the previous predictors.

    Conclusion

    Incorporating PDIVAS into variant interpretation pipelines will enable efficient detection of disease-causing deep-intronic SAVs and contribute to improving the diagnostic yield. PDIVAS is publicly available at https://github.com/shiro-kur/PDIVAS.

    Graphical abstract

    DOI： 10.1186/s12864-023-09645-2

    Other URL： https://link.springer.com/article/10.1186/s12864-023-09645-2/fulltext.html

  • Branchpoints as potential targets of exon-skipping therapies for genetic disorders.

    Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara

    Molecular therapy. Nucleic acids   33   404 - 412   2023.09

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Fukutin (FKTN) c.647+2084G>T creates a pseudo-exon with a premature stop codon, which causes Fukuyama congenital muscular dystrophy (FCMD). We aimed to ameliorate aberrant splicing of FKTN caused by this variant. We screened compounds focusing on splicing regulation using the c.647+2084G>T splicing reporter and discovered that the branchpoint, which is essential for splicing reactions, could be a potential therapeutic target. To confirm the effectiveness of branchpoints as targets for exon skipping, we designed branchpoint-targeted antisense oligonucleotides (BP-AONs). This restored normal FKTN mRNA and protein production in FCMD patient myotubes. We identified a functional BP by detecting splicing intermediates and creating BP mutations in the FKTN reporter gene; this BP was non-redundant and sufficiently blocked by BP-AONs. Next, a BP-AON was designed for a different FCMD-causing variant, which induces pathogenic exon trapping by a common SINE-VNTR-Alu-type retrotransposon. Notably, this BP-AON also restored normal FKTN mRNA and protein production in FCMD patient myotubes. Our findings suggest that BPs could be potential targets in exon-skipping therapeutic strategies for genetic disorders.

    DOI： 10.1016/j.omtn.2023.07.011

    PubMed

  • Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC

    Motoyasu Hosokawa, Ryuta Mikawa, Atsuko Hagiwara, Yukiko Okuno, Tomonari Awaya, Yuki Yamamoto, Senye Takahashi, Haruka Yamaki, Mitsujiro Osawa, Yasuhiro Setoguchi, Megumu K. Saito, Shinji Abe, Toyohiro Hirai, Shimpei Gotoh, Masatoshi Hagiwara

    iScience   107731 - 107731   2023.08（ ISSN:2589-0042 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.isci.2023.107731

  • Antagonist of sphingosine 1-phosphate receptor 3 reduces cold injury of rat donor hearts for transplantation.

    Eisho Kanemitsu, Xiangdong Zhao, Keiko Iwaisako, Asuka Inoue, Akihide Takeuchi, Shintaro Yagi, Hidetoshi Masumoto, Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Junken Aoki, Etsuro Hatano, Shinji Uemoto, Masatoshi Hagiwara

    Translational research : the journal of laboratory and clinical medicine   2022.11

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Cold storage is widely used to preserve an organ for transplantation; however, a long duration of cold storage negatively impacts graft function. Unfortunately, the mechanisms underlying cold exposure remain unclear. Based on the sphingosine-1-phosphate (S1P) signal involved in cold tolerance in hibernating mammals, we hypothesized that S1P signal blockage reduces damage from cold storage. We used an in vitro cold storage and rewarming model to evaluate cold injury and investigated the relationship between cold injury and S1P signal. Compounds affecting S1P receptors (S1PR) were screened for their protective effect in this model and its inhibitory effect on S1PRs was measured using the NanoLuc Binary Technology (NanoBiT)-β-arrestin recruitment assays. The effects of a potent antagonist were examined via heterotopic abdominal rat heart transplantation. The heart grafts were transplanted after 24-hour preservation and evaluated on day 7 after transplantation. Cold injury increased depending on the cold storage time and was induced by S1P. The most potent antagonist strongly suppressed cold injury consistent with the effect of S1P deprivation in vitro. In vivo, this antagonist enabled 24-hour preservation, and drastically improved the beating score, cardiac size, and serological markers. Pathological analysis revealed that it suppressed the interstitial edema, inflammatory cell infiltration, myocyte lesion, TUNEL-positive cell death, and fibrosis. In conclusion, S1PR3 antagonist reduced cold injury, extended the cold preservation time, and improved graft viability. Cold preservation strategies via S1P signaling may have clinical applications in organ preservation for transplantation and contribute to an increase in the donor pool.

    DOI： 10.1016/j.trsl.2022.11.003

    PubMed

  • Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan

    Masahiro Hirai, Kosuke Asada, Takeo Kato, Takahiro Ikeda, Yoko Hakuno, Ayaka Ikeda, Kanae Matsushima, Tomonari Awaya, Shin Okazaki, Toshihiro Kato, Yasuko Funabiki, Toshiya Murai, Toshio Heike, Masatoshi Hagiwara, Takanori Yamagata, Kiyotaka Tomiwa, Ryo Kimura

    Journal of Autism and Developmental Disorders   54 ( 8 )   3176 - 3184   2022.09（ ISSN:0162-3257 ） （ eISSN:1573-3432 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1007/s10803-022-05740-7

    PubMed

    Other URL： https://link.springer.com/article/10.1007/s10803-022-05740-7/fulltext.html

  • RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy Reviewed

    Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino

    Human Genetics   2022.09（ ISSN:0340-6717 ） （ eISSN:1432-1203 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1007/s00439-022-02485-2

    Other URL： https://link.springer.com/article/10.1007/s00439-022-02485-2/fulltext.html

  • Atypical Physiological Response to Less Controllable Sensory Stimulation in Children with ASD Reviewed

    Kanae Matsushima, Jun Matsubayashi, Motomi Toichi, Yasuko Funabiki, Takeo Kato, Tomonari Awaya, Reiko Tsuchida, Toshihiro Kato

    Research on Child and Adolescent Psychopathology   50 ( 10 )   1363 - 1377   2022.04

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Atypical sensory features are frequently observed in individuals with autism spectrum disorder (ASD) as uncontrollable and less predictable sensory stimuli are thought to be stressful for them. To quantify distal indicators of cardiac vagus nerve activity, which is associated with top-down self-regulatory capacity, during sensory tasks as a stress state in children with ASD, we conducted an exploratory study to measure phasic high-frequency components of heart rate variability (phasic HF-HRV) during less controllable tactile/auditory sensory tasks in 37 children with ASD (aged 6-12 years) and 37 typically developing (TD) children. Only children with ASD showed increased HF-HRV values from the resting state to the task (i.e., phasic HF-HRV augmentation) during both less controllable tactile/auditory sensory tasks. In TD children, decreased phasic HF-HRV values were observed to cope with the task demand during the less-controllable-tactile task. These findings suggest that increased phasic HF-HRV values in response to less controllable sensory stimuli may reflect atypical physiological regulation during sensory stimulation in children with ASD.

    DOI： 10.1007/s10802-022-00927-z

    PubMed

  • Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.

    Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Lorenz Studer, Adrian R Krainer, Masatoshi Hagiwara

    Nature communications   12 ( 1 )   6039 - 6039   2021.10

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    International / domestic magazine：International journal  

    DOI： 10.1038/s41467-021-26287-8

    PubMed

  • Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.

    Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Rolenz Studer, Adrian R Krainer, Masatoshi Hagiwara

    Nature communications   12 ( 1 )   4507 - 4507   2021.07

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion is specifically promoted by a small molecule splice modulator, RECTAS, even though IKBKAP-FD exon 20 has a suboptimal 5' splice site due to the IVS20 + 6 T > C mutation. Knockdown experiments reveal that exon 20 inclusion is suppressed in the absence of serine/arginine-rich splicing factor 6 (SRSF6) binding to an intronic splicing enhancer in intron 20. We show that RECTAS directly interacts with CDC-like kinases (CLKs) and enhances SRSF6 phosphorylation. Consistently, exon 20 splicing is bidirectionally manipulated by targeting cellular CLK activity with RECTAS versus CLK inhibitors. The therapeutic potential of RECTAS is validated in multiple FD disease models. Our study indicates that small synthetic molecules affecting phosphorylation state of SRSFs is available as a new therapeutic modality for mechanism-oriented precision medicine of splicing diseases.

    DOI： 10.1038/s41467-021-24705-5

    PubMed

  • Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations.

    Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jingyue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K Saito, Yohei Hayashi

    Stem cell research   53   102337 - 102337   2021.05

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were generated from skin fibroblasts using retroviral vectors. The generated hiPSC lines showed self-renewal and pluripotency, and carried either a missense or a nonsense mutation in ABCD1 gene. Since the molecular pathogenesis caused by ABCD1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for X-ALD.

    DOI： 10.1016/j.scr.2021.102337

    PubMed

  • イントロン変異を原因とする筋ジストロフィーの治療

    大原 寛明, 細川 元靖, 粟屋 智就, 高橋 良輔, 小笠原 真志, 野口 悟, 後藤 雄一, 西野 一三, 萩原 正敏

    日本筋学会学術集会プログラム・抄録集   6回   83 - 83   2020.12（ ISSN:2433-975X ）

  • Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome. Reviewed

    Ryo Kimura, Roy Lardenoije, Kiyotaka Tomiwa, Yasuko Funabiki, Masatoshi Nakata, Shiho Suzuki, Tomonari Awaya, Takeo Kato, Shin Okazaki, Toshiya Murai, Toshio Heike, Bart P F Rutten, Masatoshi Hagiwara

    Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology   45 ( 10 )   1627 - 1636   2020.04

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Williams syndrome (WS) is a rare genetic disorder, caused by a microdeletion at the 7q11.23 region. WS exhibits a wide spectrum of features including hypersociability, which contrasts with social deficits typically associated with autism spectrum disorders. The phenotypic variability in WS likely involves epigenetic modifications; however, the nature of these events remains unclear. To better understand the role of epigenetics in WS phenotypes, we integrated DNA methylation and gene expression profiles in blood from patients with WS and controls. From these studies, 380 differentially methylated positions (DMPs), located throughout the genome, were identified. Systems-level analysis revealed multiple co-methylation modules linked to intermediate phenotypes of WS, with the top-scoring module related to neurogenesis and development of the central nervous system. Notably, ANKRD30B, a promising hub gene, was significantly hypermethylated in blood and downregulated in brain tissue from individuals with WS. Most CpG sites of ANKRD30B in blood were significantly correlated with brain regions. Furthermore, analyses of gene regulatory networks (GRNs) yielded master regulator transcription factors associated with WS. Taken together, this systems-level approach highlights the role of epigenetics in WS, and provides a possible explanation for the complex phenotypes observed in patients with WS.

    DOI： 10.1038/s41386-020-0675-2

    PubMed

  • Dysregulation of the oxytocin receptor gene in Williams syndrome. Reviewed

    Ryo Kimura, Kiyotaka Tomiwa, Ryo Inoue, Shiho Suzuki, Masatoshi Nakata, Tomonari Awaya, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi Hagiwara

    Psychoneuroendocrinology   115   104631 - 104631   2020.02

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Williams syndrome (WS) is caused by a microdeletion of chromosome 7q11.23, and is characterized by various physical and cognitive symptoms. In particular, WS is characterized by hypersocial (overfriendly) behavior; WS has gained attention as aspects of the WS phenotype contrast with those of autism spectrum disorder (ASD). The oxytocin receptor gene (OXTR) contributes to social phenotypes in relation to regulation of oxytocin (OXT) secretion. Additionally, mounting evidence has recently shown that DNA methylation of OXTR is associated with human social behavior. However, the role of OXTR in WS remains unclear. This study investigated the regulation of OXTR in WS. We examined the gene expression levels in blood from WS patients and controls, and then analyzed the methylation levels in two independent cohorts. We showed that OXTR was down-regulated and hypermethylated in WS patients compared to controls. Our findings may provide an insight into OXTR in mediating complex social phenotypes in WS.

    DOI： 10.1016/j.psyneuen.2020.104631

    PubMed

  • Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Reviewed

    Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N

    J Hum Genet.   64 ( 12 )   1173 - 1186   2019.12

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.

    DOI： 10.1038/s10038-019-0667-4

    PubMed

  • MicroRNA profiling in adults with high-functioning autism spectrum disorder. Reviewed

    Nakata M, Kimura R, Funabiki Y, Awaya T, Murai T, Hagiwara M

    Molecular Brain   12 ( 1 )   82 - 82   2019.10

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. Owing to the difficulty of clinical diagnosis, ASD without intellectual disability (i.e., high-functioning ASD) is often overlooked. MicroRNAs (miRNAs) have been recently recognized as potential biomarkers of ASD as they are dysregulated in various tissues of individuals with ASD. However, it remains unclear whether miRNA expression is altered in individuals with high-functioning ASD. Here, we investigated the miRNA expression profile in peripheral blood from adults with high-functioning ASD, and age and gender-matched healthy controls. We identified miR-6126 as being robustly down-regulated in ASD and correlated with the severity of social deficits. Enrichment analysis of predicted target genes revealed potential association with neurons, synapses, and oxytocin signaling pathways. Our findings may provide insights regarding the molecular clues for recognizing high-functioning ASD.

    DOI： 10.1186/s13041-019-0508-6

    PubMed

  • An epigenetic biomarker for adult high-functioning autism spectrum disorder. Reviewed

    Kimura R, Nakata M, Funabiki Y, Suzuki S, Awaya T, Murai T, Hagiwara M

    Scientific reports   9 ( 1 )   13662 - 13662   2019.09

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Increasing evidence suggests that epigenetic mechanisms play a role in the etiology of autism spectrum disorder (ASD). To date, several studies have attempted to identify epigenetic biomarkers for ASD. However, reliable markers remain to be established and most of these studies have focused on pediatric patients with ASD. In this study, we sought to find an epigenetic DNA methylation biomarker from peripheral blood for adult patients with high-functioning ASD. DNA methylation profiles were analyzed using the Illumina 450 K methylation array. To identify robust candidate markers, we employed two types of machine-learning algorithms for marker selection. We identified a potential marker (cg20793532) for which is the AUC value was 0.79. Notably, cg20793532 was annotated to the PPP2R2C gene, which was hypermethylated and down-regulated in blood from ASD patients compared to that in the controls. Although requiring careful interpretation, this pilot study seems to provide a potential blood biomarker for identifying individuals with high-functioning ASD.

    DOI： 10.1038/s41598-019-50250-9

    PubMed

  • Integrative network analysis reveals biological pathways associated with Williams syndrome Reviewed

    Ryo Kimura, Vivek Swarup, Kiyotaka Tomiwa, Michael J. Gandal, Neelroop N. Parikshak, Yasuko Funabiki, Masatoshi Nakata, Tomonari Awaya, Takeo Kato, Kei Iida, Shin Okazaki, Kanae Matsushima, Toshihiro Kato, Toshiya Murai, Toshio Heike, Daniel H. Geschwind, Masatoshi Hagiwara

    Journal of Child Psychology and Psychiatry   60 ( 5 )   585 - 598   2019.05（ ISSN:0021-9630 ） （ eISSN:1469-7610 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/jcpp.12999

    PubMed

    Other URL： https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jcpp.12999

  • 低分子スプライス操作化合物による遺伝性疾患の新規治療法開発

    粟屋 智就, 都築 千鶴, 網代 将彦, 齋藤 潤, 萩原 正敏

    脳と発達   51 ( Suppl. )   S235 - S235   2019.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. Reviewed

    Ichisima J, Suzuki NM, Samata B, Awaya T, Takahashi J, Hagiwara M, Nakahata T, Saito MK

    Journal of human genetics   64 ( 5 )   445 - 458   2019.05（ ISSN:1434-5161 ）

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Seckel syndrome (SS) is a rare spectrum of congenital severe microcephaly and dwarfism. One SS-causative gene is Ataxia Telangiectasia and Rad3-Related Protein (ATR), and ATR (c.2101 A>G) mutation causes skipping of exon 9, resulting in a hypomorphic ATR defect. This mutation is considered the cause of an impaired response to DNA replication stress, the main function of ATR, contributing to the pathogenesis of microcephaly. However, the precise behavior and impact of this splicing defect in human neural progenitor cells (NPCs) is unclear. To address this, we established induced pluripotent stem cells (iPSCs) from fibroblasts carrying the ATR mutation and an isogenic ATR-corrected counterpart iPSC clone. SS-patient-derived iPSCs (SS-iPSCs) exhibited cell type-specific splicing; exon 9 was dominantly skipped in fibroblasts and iPSC-derived NPCs, but it was included in undifferentiated iPSCs and definitive endodermal cells. SS-iPSC-derived NPCs (SS-NPCs) showed distinct expression profiles from ATR non-mutated NPCs with negative enrichment of neuronal genesis-related gene sets. In SS-NPCs, abnormal mitotic spindles occurred more frequently than in gene-corrected counterparts, and the alignment of NPCs in the surface of the neurospheres was perturbed. Finally, we tested several splicing-modifying compounds and found that TG003, a CLK1 inhibitor, could pharmacologically rescue the exon 9 skipping in SS-NPCs. Treatment with TG003 restored the ATR kinase activity in SS-NPCs and decreased the frequency of abnormal mitotic events. In conclusion, our iPSC model revealed a novel effect of the ATR mutation in mitotic processes of NPCs and NPC-specific missplicing, accompanied by the recovery of neuronal defects using a splicing rectifier.

    DOI： 10.1038/s10038-019-0574-8

    PubMed

  • PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. Reviewed

    Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T

    Seizure   71   1 - 5   2019.05（ ISSN:1059-1311 ）

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    PURPOSE: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. METHODS: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire. RESULTS: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5. CONCLUSION: PRRT2 mutations were found in 68% of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically.

    DOI： 10.1016/j.seizure.2019.05.017

    PubMed

  • [An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures]. Reviewed

    Yasuto Tanabe, Takumi Taira, Akihiro Shimotake, Takeshi Inoue, Tomonari Awaya, Takeo Kato, Akira Kuzuya, Akio Ikeda, Ryosuke Takahashi

    Rinsho shinkeigaku = Clinical neurology   59 ( 3 )   144 - 148   2019.03（ ISSN:0009-918X ）

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：Domestic journal  

    A 21-year-old woman presented with a chief complaint of generalized tonic-clonic seizures occurring once a month at night since the age of 14. The patient was treated with clonazepam plus levetiracetam, but seizure frequency was not reduced. After the detailed re-examination of her history of illness, it was revealed that she has been suffering from transient and recurrent choreoathetoid attacks triggered by sudden voluntary movements since she was a junior high school student, and it recently increased in frequency. Neither she nor her family recognize that it was significant to describe to the doctors. She was diagnosed as a complex of paroxysmal kinesigenic choreoathetosis (PKC) and its related conditions. Direct sequencing of proline-rich transmembrane protein 2 (PRRT2) revealed the most frequently described gene mutation, (NM_145239.2:c.649dupC), among PRRT2-related paroxysmal disorders. PKC and seizures were readily controlled with small dose of carbamazepine. Given the broad spectrum of PRRT2-related paroxysmal disorders, assessment of potential clinical complication of paroxysmal disorders including PKC might therefore be critical.

    DOI： 10.5692/clinicalneurol.cn-001228

    PubMed

  • Williams-Beuren Syndrome as a Potential Risk Factor for Burkitt Lymphoma. Reviewed

    Kimura R, Ishii Y, Tomiwa K, Awaya T, Nakata M, Kato T, Okazaki S, Heike T, Hagiwara M

    Frontiers in genetics   9   368 - 368   2018

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    Publishing type：Research paper (scientific journal)   International / domestic magazine：International journal  

    Williams-Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood cancer in children with WBS. We describe a case of Burkitt lymphoma in a 21-year-old man with WBS. In addition to providing a summary of published reports describing tumors observed in patients with WBS, we present a hypothesis about a possible mechanism of oncogenesis. In particular, we identified some significantly dysregulated cancer-related genes using blood samples from this patient at the age of 19 years (who have not yet developed Burkitt lymphoma). Our findings may provide a new perspective on the relation between WBS and Burkitt lymphoma.

    DOI： 10.3389/fgene.2018.00368

    PubMed

  • Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity Reviewed

    Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Satoshi Okada, Nobuo Sakura, Shinsuke Maruyama, Atsuko Noguchi, Tomonari Awaya, Mika Ishige, Nobuyuki Ishige, Ikuma Musha, Sayaka Ajihara, Akira Ohtake, Etsuo Naito, Yusuke Hamada, Tomotaka Kono, Tomoko Asada, Hideo Sasai, Toshiyuki Fukao, Ryoji Fujiki, Osamu Ohara, Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Masaki Takayanagi, Ikue Hata, Yosuke Shigematsu, Masao Kobayashi

    MOLECULAR GENETICS AND METABOLISM   122 ( 3 )   67 - 75   2017.11（ ISSN:1096-7192 ） （ eISSN:1096-7206 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.ymgme.2017.07.011

    PubMed

  • Spinal muscular atrophy carriers with two SMN1 copies Reviewed

    Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Nur Imma Fatimah Harahap, Naoya Morisada, Yoshihiro Bouike, Toshio Saito, Yuji Kubo, Kayoko Saito, Poh San Lai, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara

    BRAIN & DEVELOPMENT   39 ( 10 )   851 - 860   2017.11（ ISSN:0387-7604 ） （ eISSN:1872-7131 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.braindev.2017.06.002

    PubMed

  • A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells Reviewed

    Takeshi Yoshida, Tomonari Awaya, Tatsuya Jonouchi, Ryo Kimura, Shigemi Kimura, Takumi Era, Toshio Heike, Hidetoshi Sakurai

    SCIENTIFIC REPORTS   7 ( 1 )   13473   2017.10（ ISSN:2045-2322 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1038/s41598-017-14063-y

    PubMed

  • Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice Reviewed

    Akiko Nakano-Kobayashi, Tomonari Awaya, Isao Kii, Yuto Sumida, Yukiko Okuno, Suguru Yoshida, Tomoe Sumida, Haruhisa Inoue, Takamitsu Hosoya, Masatoshi Hagiwara

    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA   114 ( 38 )   10268 - 10273   2017.09（ ISSN:0027-8424 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1073/pnas.1704143114

    PubMed

  • Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts Reviewed

    Kazuhiro Iwama, Takeshi Mizuguchi, Jun-ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu, Naomichi Matsumoto

    CLINICAL GENETICS   92 ( 2 )   180 - 187   2017.08（ ISSN:0009-9163 ） （ eISSN:1399-0004 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/cge.12991

    PubMed

  • 生体肝移植と脾臓摘出により救命したNiemann-Pick病C型の1例

    横山 淳史, 舞鶴 賀奈子, 中田 昌利, 齊藤 景子, 吉田 健司, 粟屋 智就, 檜垣 克美, 難波 栄二

    脳と発達   49 ( Suppl. )   S369 - S369   2017.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • Treatment of epileptic encephalopathy after human herpesvirus 6-induced post-transplantation acute limbic encephalitis with adrenocorticotropic hormone therapy: A case report Reviewed

    Kanako Maizuru, Takeo Kato, Masatoshi Nakata, Minako Ide, Keiko Saito, Takeshi Yoshida, Atsushi Yokoyama, Tomonari Awaya, Toshio Heike

    Epilepsy and Seizure   9 ( 1 )   18 - 24   2017（ ISSN:1882-5567 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.3805/eands.9.18

  • 日本におけるPRRT2関連てんかんの臨床的様相(A clinical picture of PRRT2-related epilepsy in Japan)

    Kurahashi Hirokazu, 奥村 彰久, 五十嵐 鮎子, 安部 信平, 高須 倫彦, 小林 勝弘, 大守 伊織, 大内田 まもる, 石井 敦士, 廣瀬 伸一, 高橋 悟, 粟屋 智就, 山本 俊至

    てんかん研究   34 ( 2 )   395 - 395   2016.09（ ISSN:0912-0890 ） （ eISSN:1347-5509 ）

  • Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome Reviewed

    Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu-Rachma, Miles D. Thompson, David E. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Munnich, Yoshiko Murakami, Denise Horn, Peter M. Krawitz

    HUMAN MUTATION   37 ( 8 )   737 - 744   2016.08（ ISSN:1059-7794 ） （ eISSN:1098-1004 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1002/humu.23006

    PubMed

  • Unusual sensory features are related to resting-state cardiac vagus nerve activity in autism spectrum disorders Reviewed

    Kanae Matsushima, Jun Matsubayashi, Motomi Toichi, Motomi Toichi, Yasuko Funabiki, Takeo Kato, Tomonari Awaya, Toshihiro Kato

    Research in Autism Spectrum Disorders   25   37 - 46   2016.05（ ISSN:1750-9467 ） （ eISSN:1878-0237 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.rasd.2015.12.006

  • Long-term weekly ACTH therapy for relapsed West syndrome in tuberous sclerosis complex: A case report Reviewed

    Masatoshi Nakata, Takeo Kato, Minako Ide, Keiko Saito, Takeshi Yoshida, Tomonari Awaya, Minoru Shibata, Toshio Heike

    BRAIN & DEVELOPMENT   38 ( 4 )   431 - 434   2016.04（ ISSN:0387-7604 ） （ eISSN:1872-7131 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.braindev.2015.10.004

    PubMed

  • A granulocytosis associated with rufinamide: A case report Reviewed

    Minako Ide, Takeo Kato, Masatoshi Nakata, Keiko Saito, Takeshi Yoshida, Tomonari Awaya, Toshio Heike

    BRAIN & DEVELOPMENT   37 ( 8 )   825 - 828   2015.09（ ISSN:0387-7604 ） （ eISSN:1872-7131 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.braindev.2014.12.010

    PubMed

    Other URL： http://orcid.org/0000-0002-9004-3172

  • Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells Reviewed

    Emi Shoji, Hidetoshi Sakurai, Tokiko Nishino, Tatsutoshi Nakahata, Toshio Heike, Tomonari Awaya, Nobuharu Fujii, Yasuko Manabe, Masafumi Matsuo, Atsuko Sehara-Fujisawa

    SCIENTIFIC REPORTS   5   12831   2015.08（ ISSN:2045-2322 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1038/srep12831

    PubMed

    Other URL： http://orcid.org/0000-0002-9004-3172

  • Williams症候群の児童にみられる感覚処理の問題と行動特性に関する検討

    松島 佳苗, 齊藤 景子, 粟屋 智就, 加藤 竹雄, 平家 俊男, 富和 清隆, 加藤 寿宏

    脳と発達   47 ( Suppl. )   S318 - S318   2015.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • ウイリアムス症候群における聴覚過敏、恐怖、認知行動に関するアンケート検査報告

    加藤 竹雄, 中田 昌利, 井手 見名子, 吉田 健司, 斎藤 景子, 松島 佳苗, 粟屋 智就, 加藤 寿宏, 平家 俊男, 富和 清隆

    脳と発達   47 ( Suppl. )   S319 - S319   2015.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • CONGENITAL AUTOPHAGIC VACUOLAR MYOPATHY IS ALLELIC TO X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Reviewed

    Iulia Munteanu, Nivetha Ramachandran, Alessandra Ruggieri, Tomonari Awaya, Ichizo Nishino, Berge A. Minassian

    NEUROLOGY   84 ( 16 )   1714 - 1716   2015.04（ ISSN:0028-3878 ） （ eISSN:1526-632X ）

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  • A boy with unilateral neck myoclonus of cortical origin independently on both sides Reviewed

    Takeshi Yoshida, Takeo Kato, Tomonari Awaya, Minoru Shibata, Keiko Saito, Minako Ide, Masao Matsuhashi, Toshio Heike

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY   24 ( C )   131 - 133   2015.01（ ISSN:1059-1311 ） （ eISSN:1532-2688 ）

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  • Aicardi-Goutieres Syndrome Is Caused by IFIH1 Mutations Reviewed

    Hirotsugu Oda, Kenji Nakagawa, Junya Abe, Tomonari Awaya, Masahide Funabiki, Atsushi Hijikata, Ryuta Nishikomori, Makoto Funatsuka, Yusei Ohshima, Yuji Sugawara, Takahiro Yasumi, Hiroki Kato, Tsuyoshi Shirai, Osamu Ohara, Takashi Fujita, Toshio Heike

    AMERICAN JOURNAL OF HUMAN GENETICS   95 ( 1 )   121 - 125   2014.07（ ISSN:0002-9297 ） （ eISSN:1537-6605 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.ajhg.2014.06.007

    PubMed

    Other URL： http://orcid.org/0000-0002-9004-3172

  • Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues? Reviewed

    Takeshi Yoshida, Tomonari Awaya, Minoru Shibata, Takeo Kato, Hironao Numabe, Junya Kobayashi, Kenshi Komatsu, Toshio Heike

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A   164 ( 7 )   1830 - 1834   2014.07（ ISSN:1552-4825 ） （ eISSN:1552-4833 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1002/ajmg.a.36546

    PubMed

    Other URL： http://orcid.org/0000-0002-9004-3172

  • A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study Reviewed

    Junya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, Mitsuhiro Kato, Noriko Mitsuiki, Kazushi Izawa, Tomonari Awaya, Tomoki Kawai, Takahiro Yasumi, Itaru Toyoshima, Kazuko Hasegawa, Yusei Ohshima, Toru Hiragi, Yoji Sasahara, Yasuhiro Suzuki, Masahiro Kikuchi, Hitoshi Osaka, Takashi Ohya, Shinya Ninomiya, Satoshi Fujikawa, Manami Akasaka, Naomi Iwata, Akiko Kawakita, Makoto Funatsuka, Haruo Shintaku, Osamu Ohara, Hiroshi Ichinose, Toshio Heike

    RHEUMATOLOGY   53 ( 3 )   448 - 458   2014.03（ ISSN:1462-0324 ） （ eISSN:1462-0332 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1093/rheumatology/ket372

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  • Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy Reviewed

    Minoru Shibata, Takeo Kato, Takeshi Yoshida, Keiko Saito, Toshio Heike, Tomonari Awaya

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY   22 ( 10 )   913 - 915   2013.12（ ISSN:1059-1311 ） （ eISSN:1532-2688 ）

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  • MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy Reviewed

    Takeshi Yoshida, Takuya Tamura, Yuhki Nagai, Hiroyuki Ueda, Tomonari Awaya, Minoru Shibata, Takeo Kato, Toshio Heike

    BRAIN & DEVELOPMENT   35 ( 10 )   921 - 924   2013.11（ ISSN:0387-7604 ） （ eISSN:1872-7131 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.braindev.2012.11.011

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  • Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus Reviewed

    Junya Abe, Kazushi Izawa, Ryuta Nishikomori, Tomonari Awaya, Tomoki Kawai, Takahiro Yasumi, Naoko Hiragi, Toru Hiragi, Yusei Ohshima, Toshio Heike

    RHEUMATOLOGY   52 ( 2 )   406 - 408   2013.02（ ISSN:1462-0324 ）

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  • Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy Reviewed

    Minoru Shibata, Takeo Kato, Tomonari Awaya, Souichi Adachi, Toshio Heike

    PEDIATRIC TRANSPLANTATION   16 ( 8 )   E388 - E391   2012.12（ ISSN:1397-3142 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/j.1399-3046.2012.01748.x

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  • Selective Development of Myogenic Mesenchymal Cells from Human Embryonic and Induced Pluripotent Stem Cells Reviewed

    Tomonari Awaya, Takeo Kato, Yuta Mizuno, Hsi Chang, Akira Niwa, Katsutsugu Umeda, Tatsutoshi Nakahata, Toshio Heike

    PLOS ONE   7 ( 12 )   e51638   2012.12（ ISSN:1932-6203 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1371/journal.pone.0051638

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  • Variations in early gross motor milestones and in the age of walking in Japanese children Reviewed

    Shihoko Kimura-Ohba, Akiko Sawada, Yuka Shiotani, Shigeyuki Matsuzawa, Tomonari Awaya, Hiroko Ikeda, Masako Okada, Kiyotaka Tomiwa

    PEDIATRICS INTERNATIONAL   53 ( 6 )   950 - 955   2011.12（ ISSN:1328-8067 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/j.1442-200X.2011.03423.x

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    J-GLOBAL

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  • Brain Atrophy Caused by Vitamin B12-Deficient Anemia in an Infant Reviewed

    Michi Kamei, Yasuhiko Ito, Naoki Ando, Tomonari Awaya, Takaharu Yamada, Motoo Nakagawa, Atsuko Yamaguchi, Masanobu Ohuchi, Makoto Yazaki, Hajime Togari

    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY   33 ( 7 )   556 - 558   2011.10（ ISSN:1077-4114 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1097/MPH.0b013e31821e5290

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  • Successful cord blood transplantation using a reduced-intensity conditioning regimen for advanced childhood-onset cerebral adrenoleukodystrophy Reviewed

    Tomonari Awaya, Takeo Kato, Akira Niwa, Hidefumi Hiramatsu, Katsutsugu Umeda, Ken-ichiro Watanabe, Minoru Shibata, Yasunari Yamanaka, Etsuko Maruya, Hiroh Saji, Tatsutoshi Nakahata, Souichi Adachi

    PEDIATRIC TRANSPLANTATION   15 ( 6 )   E116 - E120   2011.09（ ISSN:1397-3142 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/j.1399-3046.2009.01188.x

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  • 凍瘡様皮疹を契機に診断に至った常染色体優性遺伝形式をとるAicardi-Goutieres症候群の1家系例

    粟屋 智就, 加藤 竹雄, 柴田 実, 平城 徹, 大嶋 勇成, 平家 俊男

    脳と発達   43 ( Suppl. )   S185 - S185   2011.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • Inactivation of fibroblast growth factor binding protein 3 causes anxiety-related behaviors Reviewed

    Yasunari Yamanaka, Ayumi Kitano, Keizo Takao, Anchalee Prasansuklab, Taisei Mushiroda, Keiko Yamazaki, Tomohiro Kumada, Minoru Shibata, Yuki Takaoka, Tomonari Awaya, Takeo Kato, Takaya Abe, Nakao Iwata, Tsuyoshi Miyakawa, Yusuke Nakamura, Tatsutoshi Nakahata, Toshio Heike

    MOLECULAR AND CELLULAR NEUROSCIENCE   46 ( 1 )   200 - 212   2011.01（ ISSN:1044-7431 ） （ eISSN:1095-9327 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.mcn.2010.09.003

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    J-GLOBAL

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  • [Derivation of engraftable myogenic precursors from murine ES/iPS cells and generation of disease-specific iPS cells from patients with Duchenne muscular dystrophy (DMD) and other diseases]. Reviewed

    Tatsutoshi Nakahata, Tomonari Awaya, Hsi Chang, Yuta Mizuno, Akira Niwa, So-ichiro Fukada, Shin'ichi Takeda, Shinya Yamanaka, Toshio Heike

    Rinsho shinkeigaku = Clinical neurology   50 ( 11 )   889 - 889   2010.11（ ISSN:0009-918X ） （ eISSN:1882-0654 ）

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    International / domestic magazine：Domestic journal  

    Nakahata T, Awaya T, Chang H, Mizuno Y, Niwa A, Fukada S, Takeda S, Yamanaka S, Heike T, Rinsho shinkeigaku = Clinical neurology, 2010, vol. 50, no. 11, pp. 889

    DOI： 10.5692/clinicalneurol.50.889

    PubMed

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  • Ttyh1, a Ca2+-Binding Protein Localized to the Endoplasmic Reticulum, Is Required for Early Embryonic Development Reviewed

    Tomohiro Kumada, Yasunari Yamanaka, Ayumi Kitano, Minoru Shibata, Tomonari Awaya, Takeo Kato, Katsuya Okawa, Takaya Abe, Naoko Oshima, Tatsutoshi Nakahata, Toshio Heike

    DEVELOPMENTAL DYNAMICS   239 ( 8 )   2233 - 2245   2010.08（ ISSN:1058-8388 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1002/dvdy.22348

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  • Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells Reviewed

    Yuta Mizuno, Hsi Chang, Katsutsugu Umeda, Akira Niwa, Toru Iwasa, Tomonari Awaya, So-ichiro Fukada, Hiroshi Yamamoto, Shinya Yamanaka, Tatsutoshi Nakahata, Toshio Heike

    FASEB JOURNAL   24 ( 7 )   2245 - 2253   2010.07（ ISSN:0892-6638 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1096/fj.09-137174

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  • Head growth evaluation in early childhood, from the Japan Children's Study Reviewed

    Akiko Sawada, Hiroko Ikeda, Shihoko Kimura-Ohba, Shigeyuki Matsuzawa, Tomonori Awaya, Yuka Shiotani, Masako Okada, Kiyotaka Tomiwa

    PEDIATRICS INTERNATIONAL   52 ( 3 )   343 - 346   2010.06（ ISSN:1328-8067 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/j.1442-200X.2009.03002.x

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    J-GLOBAL

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  • Overview of the Japan Children's Study 2004-2009; Cohort Study of Early Childhood Development Reviewed

    Zentaro Yamagata, Tadahiko Maeda, Tokie Anme, Norihiro Sadato

    JOURNAL OF EPIDEMIOLOGY   20 ( SUPPL.2 )   S397 - S403   2010.02（ ISSN:0917-5040 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.2188/jea.JE20100018

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  • Successful Treatment of Refractory Donor Lymphocyte Infusion-induced Immune-Mediated Pancytopenia with Rituximab Reviewed

    Itaru Kato, Katsutsugu Umeda, Tomonari Awaya, Yoshihiro Yui, Akira Niwa, Hisanori Fujino, Hiroshi Matsubara, Ken-Ichiro Watanabe, Toshio Heike, Naoto Adachi, Fumio Endo, Tomoyuki Mizukami, Hiroyuki Nunoi, Tatsutoshi Nakahata, Souichi Adachi

    PEDIATRIC BLOOD & CANCER   54 ( 2 )   329 - 331   2010.02（ ISSN:1545-5009 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1002/pbc.22280

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  • DEVELOPMENT OF INFANTS' REQUEST EXPRESSIONS FROM 11 TO 15 MONTHS Reviewed

    Aya Kutsuki, Tamiko Ogura, Sonoko Egami, Shoji Itakura

    PSYCHOLOGICAL REPORTS   105 ( 3 )   865 - 878   2009.12（ ISSN:0033-2941 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.2466/PR0.105.3.865-878

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  • Individual differences in changes in infants' interest in social signals in relation to developmental index Reviewed

    Aya Kutsuki, Misa Kuroki, Sonoko Egami, Tamiko Ogura, Shoji Itakura

    INFANT BEHAVIOR & DEVELOPMENT   32 ( 4 )   381 - 391   2009.12（ ISSN:0163-6383 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.infbeh.2009.06.004

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  • Contribution of Parenting Factors to the Developmental Attainment of 9-Month-Old Infants: Results From the Japan Children's Study Reviewed

    Shunyue Cheng, Tadahiko Maeda, Kiyotaka Tomiwa, Noriko Yamakawa, Tatsuya Koeda, Masatoshi Kawai, Tamiko Ogura, Zentaro Yamagata

    JOURNAL OF EPIDEMIOLOGY   19 ( 6 )   319 - 327   2009.11（ ISSN:0917-5040 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.2188/jea.JE20081014

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  • Successful autologous peripheral blood stem cell transplantation with a double-conditioning regimen for recurrent hepatoblastoma after liver transplantation Reviewed

    Akira Niwa, Katsutsugu Umeda, Tomonari Awaya, Yoshihiro Yui, Hiroshi Matsubara, Hidefumi Hiramatsu, Ken-Ichiro Watanabe, Souichi Adachi, Takashi Itoh, Shinji Uemoto, Tatsutoshi Nakahata

    PEDIATRIC TRANSPLANTATION   13 ( 2 )   259 - 262   2009.03（ ISSN:1397-3142 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1111/j.1399-3046.2008.00948.x

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  • A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis Reviewed

    Hajime Yamamoto, Etsuro Yamaguchi, Hiroatsu Agata, Nobuhisa Kandatsu, Toru Komatsu, Seiko Kawai, Kenji Baba, Tomonari Awaya, Ryuta Nishikomori, Masahito Tsurusawa, Koh Nakata

    PEDIATRIC PULMONOLOGY   43 ( 8 )   828 - 830   2008.08（ ISSN:8755-6863 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1002/ppul.20856

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  • Deterioration on magnetic resonance imaging despite good clinical recovery after viral encephalitis Reviewed

    Tomonari Awaya, Takeo Kato, Minoru Shibata, Yasunari Yamanaka, Tatsutoshi Nakahata

    PEDIATRIC NEUROLOGY   38 ( 3 )   218 - 220   2008.03（ ISSN:0887-8994 ）

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    Publishing type：Research paper (scientific journal)  

    DOI： 10.1016/j.pediatrneurol.2007.10.010

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  • Progressive cerebral white matter abnormalities with emaciation and short stature

    AWAYA T

    NO TO HATTATSU   39 ( 5 )   333 - 334   2007.09（ ISSN:0029-0831 ）

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  • 神経変性・神経代謝疾患の病態に基づいた新しいモダリティによる治療開発　RNAスプライシング制御によるFabry病GLA c.640-801 G>A変異に対する治療開発

    粟屋 智就

    脳と発達   57 ( 3 )   203 - 207   2025.05（ ISSN:0029-0831 ）

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    RNAを標的とした創薬研究が近年注目を集めている.Fabry病はX染色体上のGLA遺伝子の異常によって生じ,α-ガラクトシダーゼ(α-GAL)の機能低下により,糖脂質グロボトリアオシルセラミド(Gb3)がライソゾーム中に蓄積することで発症する.GLA c.604-801 G>A変異は,第4イントロン中に早期終止コドンを含む57塩基の偽エクソンを生じて遅発型の心Fabry病を引き起こすが,台湾で行われた新生児マススクリーニングで,この変異の保有率が極めて高いことが発見された.エクソン認識を左右する因子に着目した創薬研究の一環として,この変異によって生じる偽エクソンの除去を試みたところ,RECTASと名付けた化合物が有効性を示した.現在,臨床試験に向けて前臨床試験を進めている.RECTAS系列化合物はこの変異のみならず,ユダヤ系人種に多い家族性自律神経異常症のエクソンスキッピング型変異に対しても有効である.また,他にもin vitroで有効なスプライシング異常があることがわかっている.本稿では,RNAスプライシングの異常によって生じる単一遺伝子疾患の,低分子化合物による治療開発の事例を示し,アカデミアにおける創薬研究について概説したい.(著者抄録)

  • マイクロアレイ染色体検査で明らかになる染色体微細構造異常症候群の診療体制を考える　マイクロアレイ染色体検査の実際

    粟屋 智就

    脳と発達   56 ( 4 )   259 - 265   2024.07（ ISSN:0029-0831 ）

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    2021年10月にマイクロアレイ染色体検査(CGH法,chromosome microarray testing or analysis;CMA)による染色体構造変異解析が保険適用となった.CMAでは,ガラス基板上に多数のDNAプローブを配置し,酵素学的に細断した患者ゲノムと対照ゲノムとが反応した量を比較することで,特定の染色体領域の量的変化(コピー数変化,copy number variation;CNV)や,ヘテロ接合性の喪失(loss of heterozygosity;LOH)を推定する.従来は遺伝専門家が研究として実施してきたため,検査依頼者とデータ解析者とが情報を突き合わせながら臨床的意義を検討してきた.一方,受託検査機関で実施するのはあくまで検査部分で,報告書には領域情報のみしか記載されない.結果の解釈,つまり診断は検査依頼者が自ら行う必要がある.CMAではひとりあたり複数の変化領域が検出されることも少なくなく,臨床的意義の解釈は,特定の症候群に該当しない場合にはなかなか難しい.本稿では,CMAの原理と実験手順について示し,診断のピットフォールについて考えるとともに,検出された領域の臨床的意義付けについて概説する.臨床検査としてCMAを利用出来るようになった今,検査の実施や限界,必要な説明事項,結果開示における留意点等について,改めて確認したい.(著者抄録)

  • ブランチポイントをターゲットにした筋ジストロフィーのスプライス異常の修復

    大原寛明, 大原寛明, 大原寛明, 細川元靖, 粟屋智就, 高橋良輔, 小笠原真志, 野口悟, 後藤雄一, 西野一三, 萩原正敏

    日本筋学会学術集会プログラム・抄録集   7th   2021（ ISSN:2433-975X ）

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  • INTEGRATED EPIGENETIC ANALYSIS OF WILLIAMS SYNDROME

    Ryo Kimura, Roy Lardenoije, Kiyotaka Tomiwa, Yasuko Funabiki, Masatoshi Nakata, Shiho Suzuki, Tomonari Awaya, Takeo Kato, Shin Okazaki, Toshiya Murai, Toshio Heike, Bart Rutten, Masatoshi Hagiwara

    EUROPEAN NEUROPSYCHOPHARMACOLOGY   29   S242 - S243   2019.10（ ISSN:0924-977X ） （ eISSN:1873-7862 ）

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    Publishing type：Research paper, summary (international conference)  

    DOI： 10.1016/j.euroneuro.2019.08.248

  • スプライス操作化合物RECTASを用いたファブリー病IVS4+919G>A変異に対する治療開発

    粟屋智就, 都築千鶴, 佐古有季哉, 網代将彦, 斎藤潤, 萩原正敏

    日本小児遺伝学会学術集会プログラム・抄録集   41st   56   2019

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  • 結節性硬化症データを用いた小児慢性特定疾病対策登録データの有用性の検討

    岡崎 哲也, 粟屋 智就, 林 雅晴, 小牧 宏文, 盛一 享徳, 掛江 直子

    脳と発達   50 ( Suppl. )   S359 - S359   2018.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • 合併する複雑心奇形により乳児期死亡に至った1p36欠失症候群の男児例

    神田健志, 佐藤彩, 安部大輔, 西島節子, 石上毅, 古川央樹, 粟屋智就, 寺澤厚志, 桑原直樹

    日本小児科学会雑誌   122 ( 2 )   454 - 454   2018.02（ ISSN:0001-6543 ）

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  • てんかん発作と発作性運動誘発性舞踏アテトーゼが併存したPRRT2遺伝子変異の一例

    平拓実, 下竹昭寛, 井上岳司, 井上岳司, 田邊康人, 田邊康人, 粟屋智就, 加藤竹雄, 加藤竹雄, 葛谷聡, 池田昭夫, 高橋良輔

    臨床神経学(Web)   58 ( 4 )   274(J‐STAGE)   2018（ ISSN:1882-0654 ）

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  • 神経新生促進によるダウン症モデルにおける脳発達障害の是正

    小林 亜希子, 粟屋 智就, 喜井 勲, 隅田 有人, 奥野 友紀子, 和根崎 圭子, 吉田 優, 隅田 ともえ, 井上 治久, 細谷 孝充, 萩原 正敏

    生命科学系学会合同年次大会   2017年度   [2AT26 - 1060)]   2017.12

  • 神経新生促進によるダウン症モデルにおける脳発達障害の是正

    小林亜希子, 粟屋智就, 喜井勲, 隅田有人, 奥野友紀子, 和根崎圭子, 吉田優, 隅田ともえ, 井上治久, 細谷孝充, 萩原正敏

    日本生化学会大会(Web)   2017年度   [2P - 10)]   2017.12

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  • 乳酸アシドーシスと精神運動発達退行を認め、稀なミトコンドリアDNA変異m.9204delATが検出された1女児例

    粟屋 智就, 舞鶴 賀奈子, 中田 昌利, 井手 見名子, 齊藤 景子, 横山 淳史, 加藤 竹雄, 安嶋 まさみ, 村山 圭, 松本 直通

    脳と発達   49 ( Suppl. )   S367 - S367   2017.05（ ISSN:0029-0831 ）

  • 小児慢性特定疾患治療研究事業登録データを用いた稀少疾患の疫学研究の試み 福山型先天性筋ジストロフィーの例

    粟屋 智就, 岡崎 哲也, 林 雅晴, 小牧 宏文, 盛一 享徳, 掛江 直子, 日本小児神経学会小慢, 指定難病に関する委員会

    脳と発達   49 ( Suppl. )   S312 - S312   2017.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • 出生6時間後から強直発作を認めた全前脳胞症の1例

    佐藤 彩, 粟屋 智就

    脳と発達   49 ( Suppl. )   S419 - S419   2017.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • アレイCGH検査で複数の変化が検出された発達遅滞を示す1歳女児

    粟屋智就

    脳と発達   49 ( 2 )   85‐86   2017.03（ ISSN:0029-0831 ）

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  • 小児慢性特定疾病対策の推進に寄与する実践的基盤提供にむけた研究 神経・筋疾患群についての検討 小児慢性特定疾患治療研究事業登録データを用いた稀少疾患の疫学研究の試み(1)先天性ミオパチーに関するデータ解析

    小牧宏文, 粟屋智就, 岡崎哲也

    小児慢性特定疾病対策の推進に寄与する実践的基盤提供にむけた研究 平成28年度 総括・分担研究報告書(Web)   215‐218 (WEB ONLY)   2017

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  • 小児慢性特定疾病対策の推進に寄与する実践的基盤提供にむけた研究 神経・筋疾患群についての検討 小児慢性特定疾患治療研究事業登録データを用いた稀少疾患の疫学研究の試み(2)福山型先天性筋ジストロフィーに関するデータ解析

    小牧宏文, 粟屋智就

    小児慢性特定疾病対策の推進に寄与する実践的基盤提供にむけた研究 平成28年度 総括・分担研究報告書(Web)   219‐220 (WEB ONLY)   2017

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  • 小児の筋疾患update 神経筋疾患の研究に関するiPS細胞の応用

    粟屋智就

    小児内科   48 ( 12 )   1986‐1989   2016.12（ ISSN:0385-6305 ）

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  • 学童期から横紋筋融解症と思われるエピソードを反復していた筋型CPT‐2欠損症の成人男性例

    粟屋智就, 粟屋智就, 但馬剛, 原圭一, 原圭一, 重松陽介

    特殊ミルク情報   ( 52 )   44‐47   2016.11（ ISSN:0914-7993 ）

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  • 聴覚刺激のピッチ変化方向の異同は前意識下で検出されている

    齊藤景子, 齊藤景子, 松橋眞生, 松橋眞生, 粟屋智就, 加藤竹雄, 美馬達哉, 美馬達哉, 池田昭夫, 福山秀直, 福山秀直, 平家俊男

    臨床神経生理学   44 ( 5 )   463   2016.10（ ISSN:1345-7101 ）

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  • 京都小児てんかんコホート研究:京都府下の小児てんかんの実態について

    吉田健司, 加藤竹雄, 短田浩一, 西村陽, 大前禎毅, 長村敏生, 松下浩子, 岡野創造, 丸山立憲, 粟屋智就, 千代延友裕, 森本昌史

    てんかん研究   34 ( 2 )   550   2016.09（ ISSN:0912-0890 ）

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  • 前頭葉に焦点を認めた「笑い発作」の結節性硬化症の1症例

    舞鶴賀奈子, 中田昌利, 吉田健司, 斎藤景子, 井手見名子, 横山淳史, 粟屋智就, 加藤竹雄, 平家俊男

    日本小児科学会雑誌   120 ( 7 )   1115‐1116   2016.07（ ISSN:0001-6543 ）

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  • Dissociable Effects of Facial Expression and Facial Impression on Memory for Faces in Williams Syndrome Reviewed

    Nakamichi K, Awaya T, Kato T, Tomiwa K, Tsukiura T

    International Neuropsychological Society 2016 Mid-Year Meeting, London, UK   2016.07

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    Publishing type：Research paper, summary (international conference)  

  • Williams症候群者の言語発達と顔記憶および自閉的傾向との関連

    中道和輝, 粟屋智就, 加藤竹雄, 富和清隆, 富和清隆, 月浦崇

    日本認知心理学会大会発表論文集   14th   3 - 3   2016.06

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    Williams syndrome (WS) is a neurodevelopmental disorder by a hemizygous deletion in chromosome 7. WS is relatively preserved in the processing of faces and often shows ASD characteristics. In the present study, we investigated the relationship between clinical characteristics and face memories in WS. We employed 18 WS (mean age: 25.2) and 16 children with typical development (TD) (mean age: 6.5), who performed tasks of face memory and approachability to the faces. ASD characteristics in all participants was assessed by SRS, which was scored by their parents. WS participants were divided into high (WS-H) and low (WS-L) groups by levels of language development. WS-H and TD showed a significant enhancement of memories for low and high approachable faces but not WS-L. In addition, WS-L showed significantly higher SRS scores than TD. These findings suggest that variances of verbal development could be associated with face memory and ASD characteristics in WS.

    DOI： 10.14875/cogpsy.2016.0_3

    CiNii Research

    J-GLOBAL

  • A girl with dyslexia suspected to have Irlen syndrome, completely relieved by wearing tinted lenses

    Yusuke Kusano, Tomonari Awaya, Keiko Saito, Takeshi Yoshida, Minako Ide, Takeo Kato, Toshio Heike, Toshihiro Kato

    No To Hattatsu   47 ( 6 )   445 - 448   2015.11（ ISSN:0029-0831 ）

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  • Williams症候群者における顔記憶と社会的認知特性に関する検討

    NAKAMICHI KAZUKI, AWAYA TOMOYOSHI, KATO TAKEO, TOMIWA KIYOTAKA, TOMIWA KIYOTAKA, TSUKIURA TAKASHI

    日本高次脳機能障害学会学術総会プログラム・講演抄録   39th   219   2015.10

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  • けいれん後に意識障害が遷延し,肝機能障害を認めた発達遅滞合併の3歳女児

    KATO TAKEO, NAKADA MASATOSHI, SAITO KEIKO, YOSHIDA KENJI, IDE MINAKO, AWAYA TOMOYOSHI, HEIKE TOSHIO

    日本小児救急医学会雑誌   14 ( 3 )   435   2015.10（ ISSN:1346-8162 ）

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  • 京都小児てんかんコホート研究の2次調査結果:京都府下の小児てんかんの実態について

    KATO TAKEO, TANDA KOICHI, NISHIMURA YO, OSAKI SADATAKE, OSAMURA TOSHIO, MATSUSHITA HIROKO, OKANO SOZO, MARUYAMA TATSUNORI, AWAYA TOMOYOSHI, MIZUKI MASASHI, CHIYONOBU TOMOHIRO, MORIMOTO MASAFUMI

    てんかん研究   33 ( 2 )   446   2015.09（ ISSN:0912-0890 ）

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  • Efficacy and tolerability of topiramate, lamotrigine, and levetiracetam in children with refractory epilepsy

    Takeo Kato, Masatoshi Nakata, Minako Ide, Keiko Saito, Takeshi Yoshida, Tomonari Awaya, Toshio Heike

    No To Hattatsu   47 ( 5 )   354 - 359   2015.09（ ISSN:0029-0831 ）

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  • Williams症候群者4症例における社会的認知特性に関する検討 Reviewed

    中道和輝, 粟屋智就, 加藤竹雄, 富和清隆, 月浦 崇

    第39回日本神経心理学会総会，札幌   2015.09

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    Publishing type：Research paper, summary (national, other academic conference)  

  • 外科的てんかん焦点摘出術を施行した前頭葉てんかんの2例の認知機能評価

    MAIZURU KANAKO, NAKADA MASATOSHI, IDE MINAKO, SAITO KEIKO, YOSHIDA KENJI, YOKOYAMA ATSUSHI, AWAYA TOMOYOSHI, KATO TAKEO, HEIKE TOSHIO, MATSUMOTO RIKI, IKEDA AKIO, KUNIEDA TAKEHARU, MIKUNI NOBUHIRO

    てんかん研究   33 ( 2 )   616 - 616   2015.09（ ISSN:0912-0890 ） （ eISSN:1347-5509 ）

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  • Williams症候群者2症例における社会的認知特性に関する検討

    NAKAMICHI KAZUKI, AWAYA TOMOYOSHI, KATO TAKEO, TOMIWA KIYOTAKA, TOMIWA KIYOTAKA, TSUKIURA TAKASHI

    日本神経心理学会総会プログラム・予稿集   39th   144   2015.08

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  • α‐サラセミア精神遅滞‐16番染色体症候群(ATR‐16)の1例

    AWAYA TOMOYOSHI, AWAYA TOMOYOSHI, WADA TAKAHITO, FUJII TATSUYA

    日本先天異常学会学術集会プログラム・抄録集   55th   112   2015.07

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  • 診断と治療 発作性運動誘発性舞踏アテトーゼ

    KATO TAKEO, AWAYA TOMOYOSHI

    Epilepsy   9 ( 1 )   29 - 33   2015.05（ ISSN:1882-1480 ）

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  • 「笑い発作」を契機に発見された結節性硬化症の1女児例

    舞鶴賀奈子, 中田昌利, 吉田健司, 斎藤景子, 井手見名子, 横山淳史, 粟屋智就, 加藤竹雄, 平家俊男

    日本小児科学会京都地方会会報   46 ( 1 )   4   2015.05

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  • 焦点性てんかん性ミオクローヌスを左右頸部に独立して認める3歳男児例

    KATO TAKEO, TAKAHASHI TOSHIE, IBA NORIHITO, KOMIYA KEI, FUKAO DAISUKE, INOUE MIHOKO, HARA SHIGETO, MAMADA MITSUWA, HAMAHATA KEIGO, YOSHIDA AKIRA, MOMOI TOORU, YOSHIDA KENJI, AWAYA TOMOYOSHI, SHIBATA MINORU

    日本小児科学会雑誌   119 ( 4 )   730 - 731   2015.04（ ISSN:0001-6543 ）

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  • Pompe病患者由来iPS細胞を用いた骨格筋病態モデリング

    YOSHIDA KENJI, AWAYA TOMOYOSHI, HEIKE TOSHIO, SAKURAI HIDETOSHI

    再生医療   14   291   2015.02（ ISSN:1347-7919 ）

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  • ウイリアム症候群における聴覚過敏と恐怖・行動障害との関連性について

    SAITO KEIKO, KATO TAKEO, AWAYA TOMOYOSHI, HEIKE TOSHIO, TOMIWA KIYOTAKA, KATO TOSHIHIRO, KIMURA MAKOTO, HAGIWARA MASATOSHI

    日本小児科学会雑誌   119 ( 2 )   467 - 467   2015.02（ ISSN:0001-6543 ）

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  • 乳児型および遅発型ポンペ病の初期症状と治療へのアプローチ

    AWAYA TOMOYOSHI

    日本先天代謝異常学会雑誌   30   108   2014.10（ ISSN:0912-0122 ）

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  • ACTH療法が著効した“移植後HHV6関連辺縁系脳炎罹患後のてんかん性脳症”の一男児例

    IDE MINAKO, KATO TAKEO, NAKADA MASATOSHI, SAITO KEIKO, YOSHIDA KENJI, AWAYA TOMOYOSHI, HEIKE TOSHIO

    てんかん研究   32 ( 2 )   470   2014.09（ ISSN:0912-0890 ）

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  • 全身強直間代けいれんで発症し定型欠神発作重積を繰り返した14歳の1女児例

    NAKADA MASATOSHI, IDE MINAKO, SAITO KEIKO, YOSHIDA KENJI, AWAYA TOMOYOSHI, KATO TAKEO, HEIKE TOSHIO

    てんかん研究   32 ( 2 )   466   2014.09（ ISSN:0912-0890 ）

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  • 京都府下の小児てんかん患者に関する検討と今後の展望―京都小児てんかんコホート研究(PECK)―

    MIZUKI MASASHI, IDE MINAKO, TANDA KOICHI, NISHIMURA YO, OSAKI SADATAKE, OSAMURA TOSHIO, MATSUSHITA HIROKO, OKANO SOZO, MARUYAMA TATSUNORI, AWAYA TOMOYOSHI, CHIYONOBU TOMOHIRO, KATO TAKEO, MORIMOTO MASAFUMI

    てんかん研究   32 ( 2 )   397   2014.09（ ISSN:0912-0890 ）

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  • 硫化水素中毒を契機にした身体表現性障害で歩行障害が遷延した中学生

    WAKAMOTO YOKO, JIKIHARA SHUMPEI, AKIYAMA YUICHI, ISHITSUKA TETSUYA, KITA MAKOTO, ASUI RISA, TOYOTA YUKO, KUROSU HIDEO, KAWADA KO, AWAYA TOMOYOSHI, YOSHIDA TAKAKO

    子どもの心とからだ   23 ( 1 )   75   2014.05（ ISSN:0918-5526 ）

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  • IFIH1遺伝子変異はAicardi‐Goutieres症候群の原因となる

    ODA HIROTSUGU, NAKAGAWA KENSHI, ABE JUN'YA, AWAYA TOMOYOSHI, FUNAHIKI MASAHIDE, HIJIKATA ATSUSHI, YASUMI TAKAHIRO, SHIRAI TSUYOSHI, OHARA OSAMU, KATO HIROMI, FUJITA TAKASHI, HEIKE TOSHIO

    日本遺伝子診療学会大会プログラム・抄録集   21st   301   2014

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  • 再発を繰り返す慢性炎症性脱髄性多発神経炎に対してFK506が有効であった1女児例

    井手見名子, 齊藤景子, 吉田健司, 粟屋智就, 加藤竹雄, 平家俊男, 谷岡賢一

    日本小児科学会京都地方会会報   44 ( 3 )   13   2013.12

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  • 再発を繰り返すWest症候群に対して長期的ACTH療法が奏功した結節性硬化症の女児例

    井手見名子, 斉藤景子, 吉田健司, 粟屋智就, 加藤竹雄, 北誠

    てんかん研究   31 ( 2 )   340   2013.09（ ISSN:0912-0890 ）

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  • Long-term Follow Up of Childhood-onset Cerebral Adrenoleukodystrophy Treated by Cord Blood Transplantation Using a Reduced-intensity Conditioning Regimen

    KATO TAKEO, YOSHIDA KENJI, AWAYA TOMONARI, SHIBATA MINORU, YANO MICHIHIRO, TAKAHASHI IKUKO, SAIDA SATOSHI, KATO ITARU, FUJINO HISANORI, UMEDA KATSUTSUGU, HIRAMATSU HIDEFUMI, WATANABE KEN'ICHIRO, ADACHI SOICHI, HEIKE TOSHIO

    日本小児科学会雑誌   117 ( 5 )   861 - 867   2013.05（ ISSN:0001-6543 ）

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  • 乳児期発症ポンペ病の国内調査 稀少疾患の現状把握と相互情報提供システム構築の試み

    粟屋 智就, 小篠 史郎, 加藤 竹雄, 木部 哲也, 木村 重美, 古賀 靖敏, 佐々木 征行, 實藤 雅文, 下田 木の実, 豊島 光雄, 服部 文子, 三輪 善之, 横地 健治, 米衛 ちひろ, 埜中 征哉

    脳と発達   45 ( Suppl. )   S299 - S299   2013.05（ ISSN:0029-0831 ） （ eISSN:1884-7668 ）

  • 京都府下の小児てんかん実態調査 一次調査の結果について

    森本昌史, 瑞木匡, 粟屋智就, 千代延友裕, 井手見名子, 吉田健司, 加藤竹雄

    日本小児科学会京都地方会会報   44 ( 1 )   8   2013.05

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  • Atonic attackを発作症状にもつ前頭葉てんかんの1男児例

    加藤竹雄, 柴田実, 粟屋智就, 高藤哲, 明石良子, 井庭憲人, 額田貴之, 深尾大輔, 井上美保子, 濱畑啓悟, 吉田晃, 百井享

    日本小児科学会雑誌   117 ( 3 )   659   2013.03（ ISSN:0001-6543 ）

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  • 疼痛を伴わなかったペルテス病の4歳男児例

    吉田健司, 粟屋智就, 柴田実, 加藤竹雄, 平家俊男

    日本小児科学会雑誌   117 ( 3 )   666   2013.03（ ISSN:0001-6543 ）

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  • 再発をくりかえすWest症候群に対して長期的ACTH治療が奏効している結節性硬化症の女児例

    柴田実, 加藤竹雄, 齋藤景子, 吉田健司, 粟屋智就, 平家俊男, 北誠

    てんかん研究   30 ( 3 )   542   2013.01（ ISSN:0912-0890 ）

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  • 体重増加不良,発達遅滞を機に発見されたVit.B12欠乏性貧血の4か月男児

    新井田裕子, 中川基生, 粟屋智就, 平谷俊樹, 横井誉, 伊藤康彦, 戸苅創, 水谷圭吾, 山田崇春, 山口あつ子

    日本小児科学会雑誌   116 ( 8 )   1287   2012.08（ ISSN:0001-6543 ）

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  • A Case Report of a Boy Who Came to the Hospital Because of Short Stature and Was Diagnosed with Danon Disease

    AWAYA Mie, BABA Shiro, KAICHI Shinji, AWAYA Tomonari, SHIBATA Minoru, KATO Takeo, YOKOO Noritaka, MIMA Takahiro, SEINO Chieko, NISHINO Ichizo, NONAKA Ikuya, YORIFUJI Toru, DOI Hiraku, NAKAHATA Tatsutoshi, HEIKE Toshio

    116 ( 8 )   1233 - 1238   2012.08（ ISSN:0001-6543 ）

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  • 長時間ビデオ脳波同時記録が治療方針決定に有用であった良性家族性新生児けいれんと考えている1例

    吉田健司, 粟屋智就, 柴田実, 加藤竹雄, 平家俊男, 吉田大輔

    日本小児科学会雑誌   116 ( 5 )   943   2012.05（ ISSN:0001-6543 ）

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  • 長時間脳波検査が診断に有用であったCSWS症候群の1女児例

    加藤竹雄, 三木直樹, 田中大喜, 芝剛, 塩見夏子, 吉村真一郎, 岡田雅行, 山中忠太郎, 松村正彦, 南部光彦, 粟屋智就, 柴田実

    日本小児科学会雑誌   116 ( 3 )   576   2012.03（ ISSN:0001-6543 ）

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  • 外科的てんかん焦点摘出術により動作性IQが改善したfrontal lobe epilepsyの小児例

    加藤竹雄, 吉田健司, 粟屋智就, 柴田実, 熊田知浩, 松本理器, 池田昭夫, 三国信啓, 平家俊男

    第25回近畿小児科学会   2012.03

  • Levetiracetamが奏効した若年性ミオクローヌスてんかん難治例の2例

    加藤竹雄, 吉田健司, 粟屋智就, 柴田実, 平家俊男, 三木直樹

    日本小児科学会雑誌   116 ( 2 )   355   2012.02（ ISSN:0001-6543 ）

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  • 小児大脳型副腎白質ジストロフィー造血幹細胞移植の長期予後について

    KATO TAKEO, YOSHIDA KENJI, AWAYA TOMOYOSHI, SHIBATA MINORU, FUJINO SUMINORI, UMEDA KATSUTSUGU, HIRAMATSU HIDEFUMI, WATANABE KEN'ICHIRO, ADACHI SOICHI, HEIKE TOSHIO

    日本小児科学会雑誌   116 ( 2 )   264   2012.02（ ISSN:0001-6543 ）

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  • 本邦におけるAicardi‐Goutieres症候群/Familial chilblain lupusの遺伝子解析

    阿部純也, 西小森隆太, 井澤和司, 粟屋智就, 河合朋樹, 加藤竹雄, 八角高裕, 平家俊男

    日本小児科学会雑誌   116 ( 2 )   294 - 294   2012.02（ ISSN:0001-6543 ）

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  • 当科における難治てんかん患者に対するレベチラセタムの有効性の検討

    吉田健司, 粟屋智就, 柴田実, 加藤竹雄, 平家俊男

    てんかん研究   29 ( 3 )   521-522 - 522   2012.01（ ISSN:0912-0890 ）

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  • 寒冷刺激による発熱と重症凍瘡を示したTREX1変異によるAicardu-Goutieres syndromeの1家系

    阿部純也, 西小森隆太, 井澤和司, 粟屋智就, 河合朋樹, 八角高裕, 平城徹, 平城直子, 平家俊男

    第37回免疫カンファレンス   2011.11

  • 非けいれん性てんかん重積で発症したMELASの12歳女児

    斧紀久子, 吉田健司, 粟屋智就, 柴田実, 加藤竹雄

    てんかん研究   29 ( 2 )   408   2011.09（ ISSN:0912-0890 ）

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  • 長時間ビデオ脳波同時記録が治療方針決定に有用であった良性家族性新生児けいれんと考えている一例

    YOSHIDA KENJI, AWAYA TOMOYOSHI, SHIBATA MINORU, KATO TAKEO, HEIKE TOSHIO, YOSHIDA DAISUKE

    日本小児科学会京都地方会会報   42 ( 1 )   11   2011.05

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  • 凍瘡様皮疹を契機に診断に至った常染色体優性Aicardi‐Goutieres症候群の一家系例

    粟屋智就, 井澤和司, 阿部純也, 加藤竹雄, 平城徹, 平城直子, 大嶋勇成, 西小森隆太, 平家俊男

    日本遺伝カウンセリング学会誌   32 ( 2 )   80 - 80   2011.05（ ISSN:1347-9628 ）

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  • ヒトES/iPS細胞から骨格筋への分化誘導と筋疾患への応用

    粟屋智就, 加藤竹雄, 柴田実, 中畑龍俊, 平家俊男

    日本小児科学会雑誌   115 ( 2 )   294   2011.02（ ISSN:0001-6543 ）

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  • 強直発作を発作症状とする症候性局在関連性てんかんの1女児例

    柴田実, 粟屋智就, 山中康成, 加藤竹雄, 中畑龍俊, 松本理器, 池田昭夫, 長門雅子

    てんかん研究   28 ( 3 )   465 - 465   2011.01（ ISSN:0912-0890 ） （ eISSN:1347-5509 ）

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  • Atypical benign partial epilepsyの女児例

    加藤竹雄, 粟屋智就, 柴田実, 平家俊男

    日本小児科学会京都地方会会報   41 ( 3 )   8   2010.12

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  • 多能性幹細胞（ES細胞、iPS細胞）を用いた骨格筋／前駆細胞の同定およびその臨床応用に関する研究

    平家俊男, 粟屋智就, 加藤竹雄

    平成22年度精神・神経疾患研究開発費 筋ｼﾞｽﾄﾛﾌｨｰに対するﾄﾗﾝｽﾚｰｼｮﾅﾙ･ﾘｻｰﾁ 研究班会議   2010.12

  • 長期間ACTHが奏功している乳児期発症ESES関連脳症と考えられる一女児例

    粟屋智就, 柴田実, 加藤竹雄

    てんかん研究   28 ( 2 )   361   2010.09（ ISSN:0912-0890 ）

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  • マウス胚性幹細胞および誘導多能性幹細胞からの骨格筋幹/前駆細胞の誘導と移植効果

    粟屋智就, 張璽, 水野雄太, 丹羽明, 加藤竹雄, 深田宗一朗, 山元弘, 山中伸弥, 中畑龍俊, 平家俊男

    Inflamm Regen   30 ( 4 )   319   2010.07（ ISSN:1880-9693 ）

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  • Dopa‐responsive Dystoniaの2症例

    河田紗耶架, 北誠, 粟屋智就, 柴田実, 山中康成, 加藤竹雄, 平家俊男

    日本小児科学会雑誌   114 ( 4 )   736   2010.04（ ISSN:0001-6543 ）

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  • ヒトのてんかん発作症状における脳幹,視床の関与の可視化の検討

    井内盛遠, 加藤竹雄, 粟屋智就, 松本理器, 澤本伸克, 今村久司, 中川朋一, 美馬達哉, 高橋良輔, 池田昭夫, 福山秀直

    日本神経学会総会プログラム・抄録集   51st   390   2010

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  • 二次性偽性低アルドステロン症(PHA)を呈した両側先天性閉塞性巨大尿管症(POM)の1例

    兼松明弘, 上田政克, 井口亮, 中村英二郎, 小川修, 大封智雄, 粟屋智就, 依藤亨, 伴由布子

    日本小児科学会雑誌   113 ( 8 )   1271   2009.08（ ISSN:0001-6543 ）

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  • Carbamazepineによって全般性てんかん発作が誘発された局在関連性てんかんの3例

    柴田実, 粟屋智就, 山中康成, 加藤竹雄, 中畑龍俊

    日本小児科学会雑誌   113 ( 8 )   1274   2009.08（ ISSN:0001-6543 ）

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  • 原発性卵巣機能低下症を合併したAtaxia telangiectasia like disorderの1女児例

    加藤 竹雄, 柴田 実, 粟屋 智就, 山中 康成, 三國 貴康

    脳と発達   41 ( Suppl. )   S405 - S405   2009.05（ ISSN:0029-0831 ）

  • マウスiPS細胞からの移植可能な骨格筋前駆細胞の作成

    水野雄太, 張璽, 丹羽明, 梅田雄嗣, 粟屋智就, 深田宗一朗, 山元弘, 山中伸弥, 平家俊男, 中畑龍俊

    再生医療   8   179   2009.02（ ISSN:1347-7919 ）

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  • 18か月児の利き手の性差,および親の利き手との関連

    松澤重行, 木村志保子, 澤田晃子, 粟屋智就, 池田浩子, 富和清隆

    日本小児科学会雑誌   113 ( 2 )   245 - 245   2009.02（ ISSN:0001-6543 ）

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  • 副腎白質ジストロフィーに骨髄非破壊的処置を用いて臍帯血移植を施行した2例

    才田聡, 足立壯一, 野村安隆, 加藤竹雄, 粟屋智就, 森嶋達也, 藤野寿典, 松原央, 渡邉健一郎, 中畑龍俊

    日本小児科学会雑誌   113 ( 2 )   277   2009.02（ ISSN:0001-6543 ）

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  • フローランの先行投与により生体肝移植を施行し得た,門脈体循環シャントに伴うHPS+PPHTNの1例

    土井拓, 長田加寿子, 馬場志郎, 内尾寛子, 美馬隆宏, 粟屋智就, 平家俊男, 中畑龍俊, 岡本晋弥, 上本伸二

    日本小児循環器学会雑誌   24 ( 6 )   742   2008.11（ ISSN:0911-1794 ）

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  • 脳波と機能的MRIの同時計測(EEG‐fMRI)によるてんかん焦点の同定と関連するネットワークの評価:皮質脳波との比較

    井内盛遠, 松本理器, 澤本伸克, 中川朋一, 浦山慎一, 美馬達哉, 三國信啓, 穴見公隆, 粟屋智就, 加藤竹雄, 福山秀直, 高橋良輔, 池田昭夫

    臨床神経生理学   36 ( 5 )   513 - 514   2008.10（ ISSN:1345-7101 ） （ eISSN:2188-031X ）

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  • Carbamazepineによって全般性てんかん発作が誘発された局在関連性てんかんの4例

    SHIBATA MINORU, AWAYA TOMOYOSHI, YAMANAKA YASUNARI, KATO TAKEO, NAKAHATA TATSUTOSHI, IUCHI MORITOO, IKEDA AKIO

    てんかん研究   26 ( 2 )   354 - 354   2008.09（ ISSN:0912-0890 ）

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  • マウスiPS細胞からの試験管内造血誘導における,分化過程の経時的解析とヘマンジオブラストの同定

    丹羽明, 梅田雄嗣, 張璽, 深津智樹, 才田聡, 粟屋智就, 加藤格, 森嶋達也, 田中孝之, 沖田圭介, 高橋和利, 中川誠人, 山中伸弥, 平家俊男, 中畑龍俊

    臨床血液   49 ( 9 )   913   2008.09（ ISSN:0485-1439 ）

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  • P1-40 Generalized seizure induced by carbamazepine in localization-related epilepsy(The 42^<nd> Congress of the Japan Epilepsy Society)

    Journal of the Japan Epilepsy Society   26 ( 2 )   354 - 354   2008.09（ ISSN:0912-0890 ）

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  • フローランの先行投与により生体肝移植を施行し得た,門脈体循環シャントに伴うPPHTNの1例

    OSADA KAZUKO, DOI TAKU, BABA SHIRO, UCHIO HIROKO, MIWA TAKAHIRO, AWAYA TOMONORI, HEIKE TOSHIO, NAKAHATA TATSUTOSHI, OKAMOTO SHIN'YA, UEMOTO SHINJI

    日本小児循環器学会雑誌   24 ( 5 )   656   2008.09（ ISSN:0911-1794 ）

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  • iPS細胞を用いた一次造血・二次造血の試験管内分化誘導

    丹羽明, 梅田雄嗣, 張璽, 森嶋達也, 粟屋智就, 加藤格, 沖田圭介, 高橋和利, 山中伸弥, 平家俊男, 中畑龍俊

    Inflamm Regen   28 ( 4 )   373   2008.07（ ISSN:1880-9693 ）

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  • 乳児型Pompe病に対してrhGAA療法を行った1例

    赤川 美絵, 粟屋 智就, 納富 誠史郎, 柴田 実, 山中 康成, 加藤 竹雄, 依藤 亨, 中畑 龍俊

    脳と発達   40 ( Suppl. )   S296 - S296   2008.05（ ISSN:0029-0831 ）

  • 神経節細胞腫に起因する局在関連てんかんがperiodic spasmsを引き起こした1例

    粟屋 智就, 長田 加寿子, 柴田 実, 山中 康成, 加藤 竹雄, 中畑 龍俊, 富和 清隆

    脳と発達   40 ( Suppl. )   S263 - S263   2008.05（ ISSN:0029-0831 ）

  • 二次性偽性低アルドステロン症を呈した両側先天性巨大尿管症の一例

    KANEMATSU AKIHIRO, UEDA MASAKATSU, INOKUCHI RYO, NAKAMURA EIJIRO, OGAWA OSAMU, DAIFU TOMOO, AWAYA TOMOYOSHI, YORIFUJI TOORU, BAN YUKO

    日本小児科学会京都地方会会報   39 ( 1 )   6   2008.05

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  • 非けいれん性てんかん重積をきたした多発性硬化症の1例

    粟屋 智就, 加藤 竹雄, 大封 智雄, 柴田 実, 山中 康成, 白石 一浩, 富和 清隆, 中畑 龍俊

    脳と発達   40 ( Suppl. )   S350 - S350   2008.05（ ISSN:0029-0831 ）

  • Periodic spasmsを呈した,難治性症候性部分てんかんの1例

    加藤竹雄, 長田加寿子, 粟屋智就, 柴田実, 山中康成, 中畑龍俊, 池田昭夫, 三國信啓

    日本小児科学会雑誌   112 ( 4 )   760   2008.04（ ISSN:0001-6543 ）

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  • 特発性肺胞蛋白症に対してGM‐CSF吸入療法と肺胞洗浄を施行した9歳女児例

    粟屋智就, 河合朋樹, 西小森隆太, 平家俊男, 中畑龍俊, 中沢洋三, 山本創, 山口悦郎, 中田光

    日本小児科学会雑誌   112 ( 4 )   761   2008.04（ ISSN:0001-6543 ）

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  • てんかん発作が主体で非典型的な画像所見を呈した多発性硬化症の一女児例

    大封智雄, 粟屋智就, 甲原貴子, 柴田実, 山中康成, 加藤竹雄, 中畑龍俊, 富和清隆, 白石一浩

    日本小児科学会雑誌   112 ( 2 )   393   2008.02（ ISSN:0001-6543 ）

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  • 骨髄非破壊的臍帯血移植により良好な経過を得ている副腎白質ジストロフィーの進行例

    粟屋智就, 加藤竹雄, 濱本奈央, 梅田雄嗣, 平松英文, 渡邉健一郎, 足立壮一, 中畑龍俊, 重松陽介

    日本小児科学会雑誌   112 ( 2 )   274   2008.02（ ISSN:0001-6543 ）

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  • 外科的治療が奏功した難治性症候性部分てんかんの一例

    長田加寿子, 粟屋智就, 加藤竹雄, 中畑龍俊

    日本小児科学会京都地方会会報   38 ( 2 )   9   2007.09

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  • 頭皮上脳波・機能的MRIの同時計測によるてんかん性活動の局在:皮質脳波所見との比較

    井内盛遠, 松本理器, 澤本伸克, 花川隆, 浦山慎一, 美馬達哉, 三國信啓, 穴見公隆, 粟屋智就, 加藤竹雄, 高橋良輔, 池田昭夫, 福山秀直

    てんかん研究   25 ( 3 )   243 - 243   2007.09（ ISSN:0912-0890 ） （ eISSN:1347-5509 ）

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  • 京都府におけるRSウイルス感染症重症例の実態(第2報)―呼吸管理を要した重症例に関する検討―

    伊藤陽里, 長村敏生, 清沢伸幸, 小松博史, 大前禎毅, 岸田憲二, 藤原大輔, 西小森隆太, 粟屋智就, 中村彰利, 中島文明

    日本小児科学会雑誌   111 ( 6 )   789   2007.06（ ISSN:0001-6543 ）

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  • 生体肝移植後に肺転移をきたし自家末梢血幹細胞移植を施行した肝芽腫の1例

    粟屋智就, 丹羽明, 由井理洋, 梅田雄嗣, 平松英文, 渡邉健一郎, 足立壮一, 中畑龍俊, 伊藤幸司, 尾池文隆, 阪本靖介, 江川裕人

    日本小児科学会雑誌   111 ( 6 )   788   2007.06（ ISSN:0001-6543 ）

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  • 京都府におけるRSウイルス感染症重症例の実態(第1報)―最近3年間の動向―

    ITO HISATO, OSAMURA TOSHIO, KIYOSAWA NOBUYUKI, KOMATSU HIROSHI, OSAKI SADATAKE, KISHIDA KENJI, FUJIWARA DAISUKE, NISHIKOMORI RYUTA, AWAYA TOMOYOSHI, NAKAMURA AKITOSHI, NAKAJIMA FUMIAKI

    日本小児科学会雑誌   111 ( 6 )   789   2007.06（ ISSN:0001-6543 ）

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  • 骨髄非破壊的前処置を用いて骨髄移植を行った慢性肉芽腫症の2例

    三國貴康, 梅田雄嗣, 岩田あや, 粟屋智就, 高原賢守, 濱本奈央, 由井理洋, 丹羽明, 岡藤郁夫, 平松英文, 渡邉健一郎, 足立壮一, 平家俊男, 中畑龍俊, 水上智之, 布井博幸, 足立尚登

    日本小児科学会雑誌   111 ( 6 )   788   2007.06（ ISSN:0001-6543 ）

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  • 特発性肺胞蛋白症の9才女児例

    山本創, 縣裕篤, 近藤良子, 川合紀子, 竹内三奈, 北川好郎, 堀壽成, 鶴澤正仁, 松井聖子, 馬場研二, 山口悦郎, 中田光, 粟屋智就, 河合朋樹, 西小森隆太, 神立延久, 小松徹

    アレルギー   56 ( 3/4 )   361 - 361   2007.04（ ISSN:0021-4884 ）

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  • 24OP6-14 生体肝移植後に肺転移をきたし自家末梢血幹細胞移植を施行した肝芽腫の一例(ポスター 肝芽腫,第22回日本小児がん学会 第48回日本小児血液学会 第4回日本小児がん看護研究会 同時期開催)

    梅田雄嗣, 粟屋智就, 丹羽明, 由井理洋, 平松英文, 渡邉健一郎, 足立壮一, 中畑龍俊, 伊藤幸司, 尾池文隆, 阪本靖介, 江川裕人, 上本伸二

    小児がん : 小児悪性腫瘍研究会記録   43 ( 3 )   558 - 558   2006.11（ ISSN:0389-4525 ）

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  • 24OP8-5 気管支肺炎を契機に発見された半椎に隣接した後縦隔神経節細胞腫の一例(ポスター その他(臨床)1,第22回日本小児がん学会 第48回日本小児血液学会 第4回日本小児がん看護研究会 同時期開催)

    粟屋智就, 渡邉健一郎, 梅田雄嗣, 平松英文, 足立壮一, 中畑龍俊

    小児がん : 小児悪性腫瘍研究会記録   43 ( 3 )   571 - 571   2006.11（ ISSN:0389-4525 ）

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  • 気管支肺炎を契機に発見された半椎に隣接した後縦隔神経節細胞腫の一例

    粟屋智就, 渡邉健一郎, 梅田雄嗣, 平松英文, 足立壮一, 中畑龍俊

    日本小児血液学会雑誌   20 ( 5 )   434   2006.10（ ISSN:0913-8706 ）

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  • 生体肝移植後に肺転移をきたし自家末梢血幹細胞移植を施行した肝芽腫の一1列

    UMEDA YUJI, AWAYA SATONARI, NIWA AKIRA, YOSHII RIYO, HIRAMATSU EIBUN, WATANABE KEN'ICHIRO, ADACHI SOICHI, NAKAHATA TATSUTOSHI, ITO KOJI, OIKE FUMITAKA, SAKAMOTO YASUSUKE, EGAWA HIROHITO, UEMOTO SHINJI

    日本小児血液学会雑誌   20 ( 5 )   421   2006.10（ ISSN:0913-8706 ）

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  • DLI後の汎血球減少症に対してRituximabが著効した慢性肉芽腫症の一例

    粟屋智就, 由井理洋, 丹羽明, 梅田雄嗣, 平松英文, 渡邉健一郎, 足立壮一, 中畑龍俊, 足立尚登, 水上智之, 布井博幸

    臨床血液   47 ( 9 )   1246   2006.09（ ISSN:0485-1439 ）

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  • 京都府におけるRSウイルス重症感染症の実態 (第2報)―呼吸管理を要した重症例に関する検討―

    ITO HISATO, OSAMURA TOSHIO, KIYOSAWA NOBUYUKI, KOMATSU HIROSHI, OMAE TEIKI, KISHIDA KENJI, FUJIWARA DAISUKE, NISHIKOMORI RYUTA, AWAYA TOMONARI, NAKAMURA AKITOSHI, NAKAJIMA FUMIAKI

    日本小児科学会京都地方会会報   37 ( 2 )   7   2006.09

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  • 治療に反応せず予後不良な経過をたどった,肥大型心筋症,肺動脈弁狭窄,三尖弁異形成の1例

    粟屋智就, 岩朝徹, 馬場志郎, 鷄内伸二, 平海良美, 池田義, 成田淳, 高橋邦彦, 小垣滋豊, 土井拓, 中畑龍俊

    日本小児循環器学会雑誌   22 ( 3 )   416   2006.05（ ISSN:0911-1794 ）

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  • 生体肝移植後に肺転移をきたし自家末梢血幹細胞移植を施行した肝芽腫の一例

    AWAYA TOMOYUKI, NIWA AKIRA, YUI MASAHIRO, UMEDA YUJI, HIRAMATSU HIDEFUMI, WATANABE KEN'ICHIRO, ADACHI SOICHI, NAKAHATA TATSUTOSHI, ITO KOJI, OIKE FUMITAKA, SAKAMOTO SEISUKE, EGAWA YUTO

    日本小児科学会京都地方会会報   37 ( 1 )   13   2006.05

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  • 画像上,ADEMと鑑別困難だった脳炎の1例

    AWAYA TOMOYUKI, SHIBATA MINORU, KUMADA TOMOHIRO, SHIRAISHI KAZUHIRO, YAMANAKA YASUNARI, KATO TAKEO, NAKAHATA TATSUTOSHI

    日本小児科学会京都地方会会報   36 ( 3 )   5   2005.11

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  • 頚部超音波法による新生児脳血流量の評価―低酸素性虚血性脳症の影響

    福田純男, 粟屋智就, 新井田裕子, 杉浦時雄, 加藤丈典, 山田恭聖, 加藤稲子, 側島久典, 戸苅創

    日本小児科学会雑誌   109 ( 2 )   129   2005.02（ ISSN:0001-6543 ）

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Presentations

Industrial Property Rights

  • 多能性幹細胞から骨格筋または骨格筋前駆細胞への分化誘導法

    平家 俊男, 中畑 龍俊, 粟屋 智就

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    property_type：Patent 

    Application no：特願2012-548262 

    Announcement no：特表2013-527746 

    J-GLOBAL

Grant-in-Aid for Scientific Research

  • 低出生体重に起因する発達障害の発症機序解明と抗炎症による予防法の作用機序解明

    Grant-in-Aid for Scientific Research(B)  2026

  • 低出生体重に起因する発達障害の発症機序解明と抗炎症による予防法の作用機序解明

    Grant-in-Aid for Scientific Research(B)  2025

  • Synthetic investigation of pathological phase separation of RNA-binding proteins

    Grant-in-Aid for Scientific Research(S)  2025

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  • 解剖学実習

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