Toshiyuki Yamamoto 研究室

主宰者：Toshiyuki Yamamoto

国立精神・神経医療研究センター

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝的背景を持つ稀な疾患や原因不明の疾患の解明を中心に研究を進めています。特に、知的発達障害や発達遅延、てんかん、血液系疾患など多様な遺伝性疾患を対象としており、患者から採取した試料を用いて疾患の原因となる遺伝子変異を同定することで、それぞれの疾患の病態メカニズムを明らかにしています。研究手法としては、次世代シーケンシング技術を駆使した遺伝学的解析が主軸となっています。全ゲノム解析や全エクソーム解析といった網羅的な遺伝子検査に加え、ロングリード・シーケンシング技術を活用することで、従来の方法では検出困難だった複雑な染色体構造異常の詳細を明らかにしています。さらに、特定の疾患メカニズムについては、オルガノイドやモデル動物を用いた機能解析も実施しており、遺伝子変異が実際にどのように疾患につながるのかを多角的に検証しています。これまでの研究成果として、複数の新規疾患遺伝子の同定や、既知疾患における新たな遺伝的基盤の発見が報告されています。こうした知見は、正確な診断と治療法開発につながる基礎となり、稀少疾患に苦しむ患者への臨床的応用を目指した研究が展開されています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

外部リンク

研究成果（59 件）

[2025] Validity of Aspiration Prevention Surgery in Elderly Patients with Cerebrovascular or Neurodegenerative Disorders
DOI: https://doi.org/10.1007/s00455-025-10889-1
[2025] Unique <scp>DUP</scp>‐<scp>TRP</scp>/<scp>INV</scp>‐<scp>DUP</scp> Structure Detected by Long‐Read Sequencing
DOI: https://doi.org/10.1002/ajmg.a.64044
[2025] Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay
DOI: https://doi.org/10.1038/s41525-025-00521-4
[2025] Generalized Pustular Psoriasis as a Systemic Inflammatory Disease: Experience With 38 Japanese Cases Over 15 Years at a Single Institution
DOI: https://doi.org/10.7759/cureus.88108
[2025] IgSF11–RAP1 signaling promotes cell migration and invasion of cutaneous melanoma
DOI: https://doi.org/10.1186/s12964-025-02245-5
[2025] Compliance With Swallowing Instruction and Quality of Life in Patients With Parkinson's Disease: A Retrospective Assessment of Instructional Methods to Maintain and Improve Quality of Life
DOI: https://doi.org/10.1002/wjo2.70039
[2025] Multiple Epidermal Cysts Following Resolution of Hidradenitis Suppurative on the Legs in a Patient with Crohn’s Disease
DOI: https://doi.org/10.4103/ijd.ijd_510_24
[2025] miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models
DOI: https://doi.org/10.1016/j.isci.2025.113789
[2025] Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing
DOI: https://doi.org/10.1038/s10038-025-01408-z
[2024] Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
DOI: https://doi.org/10.1038/s41439-023-00262-9

続きを表示（残り 49 件）

[2024] Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design
DOI: https://doi.org/10.1007/978-1-0716-3810-1_24
[2024] Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series
DOI: https://doi.org/10.1177/2050313x241264959
[2024] Remission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy
DOI: https://doi.org/10.1210/jcemcr/luae240
[2024] Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
DOI: https://doi.org/10.1038/s41439-024-00289-6
[2024] Reciprocal chromosome translocation t(3;4)(q27;q31.2) with deletion of 3q27 and reduced FBXW7 expression in a patient with developmental delay, hypotonia, and seizures
DOI: https://doi.org/10.1038/s10038-024-01286-x
[2024] Glass syndrome derived from chromosomal breakage downstream region of SATB2
DOI: https://doi.org/10.1016/j.braindev.2024.06.003
[2024] VEGFA locus amplification potentially predicts a favorable prognosis in gastric adenocarcinoma
DOI: https://doi.org/10.1016/j.prp.2024.155441
[2024] Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait
DOI: https://doi.org/10.1038/s41439-024-00278-9
[2024] Identification of Prostaglandin I 2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis
DOI: https://doi.org/10.1161/jaha.123.032872
[2024] Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions
DOI: https://doi.org/10.5582/irdr.2023.01119
[2023] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
DOI: https://doi.org/10.1038/s41439-023-00235-y
[2023] Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
DOI: https://doi.org/10.1038/s10038-023-01202-9
[2023] Clinical Subsets of Inclusion Body Myositis (P9-8.004)
DOI: https://doi.org/10.1212/wnl.0000000000201783
[2023] Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns
DOI: https://doi.org/10.1038/s10038-023-01181-x
[2023] Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed <scp>SATB2</scp>‐associated syndrome
DOI: https://doi.org/10.1002/ajmg.a.63225
[2023] MULTIPOINT OBSERVATION OF PEDESTRIANS AND BICYCLES USING COMMERCIALLY AVAILABLE CAMERAS
DOI: https://doi.org/10.2208/jscejj.23-20034
[2023] Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
DOI: https://doi.org/10.1038/s41439-023-00250-z
[2023] Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for <scp>MEF2C</scp>
DOI: https://doi.org/10.1002/ajmg.a.63182
[2022] Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome
DOI: https://doi.org/10.1007/s00467-022-05604-3
[2022] Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
DOI: https://doi.org/10.1038/s41439-022-00220-x
[2022] Clinical characteristics of dysphagic inclusion body myositis
DOI: https://doi.org/10.1016/j.nmd.2022.11.008
[2022] Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features
DOI: https://doi.org/10.1002/ajmg.a.63034
[2022] A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
DOI: https://doi.org/10.1007/s12311-022-01489-y
[2022] Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35–42 Years: Live Birth Rate, Developmental Follow-up of Children, and Embryo Ranking
DOI: https://doi.org/10.1007/s43032-022-01073-z
[2022] Beta-Tricalcium Phosphate as a Possible Adjuvant in γδ T Cell-Based Immune Therapy for Human Disorders
DOI: https://doi.org/10.24488/twmuj.2022012
[2022] Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants
DOI: https://doi.org/10.5582/irdr.2022.01067
[2022] Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
DOI: https://doi.org/10.1002/ccr3.6070
[2022] Clinical Diversity of Patients with Neuronal Intranuclear Inclusion Disease (S8.001)
DOI: https://doi.org/10.1212/wnl.98.18_supplement.927
[2022] Less fatty infiltration of the quadriceps muscles in dysphagic inclusion body myositis (P15-13.006)
DOI: https://doi.org/10.1212/wnl.98.18_supplement.356
[2022] Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements
DOI: https://doi.org/10.1002/ajmg.a.62997
[2022] Inverted‐duplication‐deletion of chromosome 10q identified in a patient with systemic lupus erythematosus
DOI: https://doi.org/10.1111/ped.15396
[2022] Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
DOI: https://doi.org/10.1038/s10038-022-01025-0
[2022] Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period
DOI: https://doi.org/10.1111/jog.15236
[2022] Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1
DOI: https://doi.org/10.1182/blood.2021013753
[2022] Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis
DOI: https://doi.org/10.1038/s41439-021-00179-1
[2021] A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting
DOI: https://doi.org/10.1016/j.jccase.2021.02.012
[2021] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease
DOI: https://doi.org/10.1038/s41439-021-00144-y
[2021] A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report
DOI: https://doi.org/10.1111/jdi.13645
[2021] Clinical spectrum of individuals with de novo <scp> EBF3 </scp> variants or deletions
DOI: https://doi.org/10.1002/ajmg.a.62369
[2021] <scp> HECW2 </scp> ‐related disorder in four Japanese patients
DOI: https://doi.org/10.1002/ajmg.a.62363
[2021] Blended phenotype of combination of <scp> HERC2 </scp> and <scp> AP3B2 </scp> deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15
DOI: https://doi.org/10.1002/ajmg.a.62371
[2021] Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
DOI: https://doi.org/10.1038/s41439-021-00176-4
[2021] Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan
DOI: https://doi.org/10.1182/blood-2021-152599
[2021] Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons
DOI: https://doi.org/10.1093/hmg/ddab113
[2021] Linear lichen planus associated with primary aldosteronism
DOI: https://doi.org/10.7241/ourd.20214.31
[2021] A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
DOI: https://doi.org/10.1038/s41439-021-00148-8
[2021] More prominent fibrosis of the cricopharyngeal muscle caused upper esophageal achalasia in inclusion body myositis (91)
DOI: https://doi.org/10.1212/wnl.96.15_supplement.91
[2021] More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis
DOI: https://doi.org/10.1016/j.jns.2021.117327
[2021] MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
DOI: https://doi.org/10.1038/s41439-021-00142-0

科研費（0 件）

まだデータがありません（KAKEN 取り込み後に表示）。

所属学会・役職（0 件）

まだデータがありません（学会データ連携後に表示）。

AI 要約（直近 5 年の研究成果）

外部リンク

関連研究室(8 件)

研究成果（59 件）

科研費（0 件）

所属学会・役職（0 件）