Tomoki Kosho 研究室

主宰者：Tomoki Kosho

信州大学・Shinshu University Hospital

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝子の異常が引き起こす希少な遺伝性疾患の原因解明と臨床応用に取り組んでいます。特に、結合組織や神経系の異常をもたらす遺伝子変異に焦点を当て、患者の詳細な臨床情報と遺伝学的検査を組み合わせて新しい疾患メカニズムを発見しています。主な研究対象は、結合組織の構成成分である蛋白質や糖タンパク質の異常です。例えば、皮膚や血管の脆弱性をもたらす遺伝子変異の機構を調べるため、細胞培養や動物モデルを使った実験系を構築し、異常な組織構造がどのように形成されるかを電子顕微鏡などの画像解析手法で観察しています。また、心臓や肺などの臓器障害を伴う遺伝性疾患に対して、遺伝子解析技術を用いて患者から新規の疾患原因遺伝子を同定し、その機能異常を分子・細胞レベルで解析しています。これらの基礎研究の成果は、診断精度の向上や患者管理の最適化へと直結しています。遺伝子変異の特性を明らかにすることで、臨床現場での正確な診断支援や治療戦略の立案に貢献し、希少疾患の患者とその家族が適切な医療ケアを受けられる環境の整備を目指しています。

※ 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。

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研究成果（66 件）

[2026] Molecular Characterization and Its Clinical Application of <scp> GNAS </scp> Variants in Intramuscular Myxoma
DOI: https://doi.org/10.1002/cam4.71751
[2026] Advances in care and management of infants and children with trisomy 13 and trisomy 18: A paradigm shift
DOI: https://doi.org/10.1177/22146490261436975
[2026] Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys‐Dietz Syndrome
DOI: https://doi.org/10.1111/pin.70078
[2026] Concurrent central nervous system infection with Candida and Mycobacterium intracellulare in CARD9 deficiency: immunological insights from a single case
DOI: https://doi.org/10.1093/cei/uxag024
[2025] PO-05-103 CLINICAL AND GENETIC ASPECTS OF LONG-QT SYNDROME: EVIDENCE FROM A NATIONWIDE LQTS REGISTRY IN JAPAN
DOI: https://doi.org/10.1016/j.hrthm.2025.03.1501
[2025] Clinical Impact of Genetic Testing for Long QT Syndrome　― Evidence From a Nationwide LQTS Registry in Japan ―
DOI: https://doi.org/10.1253/circj.cj-25-0105
[2025] Segmented ring-mesh model of glycosaminoglycan chains based on the 3D analysis of normal individual and musculocontractural Ehlers–Danlos syndrome skin using scanning transmission electron microscopy
DOI: https://doi.org/10.1093/jmicro/dfaf012
[2025] Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report
DOI: https://doi.org/10.1016/j.gore.2024.101675
[2025] Model animals and attempts to develop therapeutic drugs for facioscapulohumeral muscular dystrophy
DOI: https://doi.org/10.33611/trs.2025-008
[2025] Novel germline likely pathogenic frameshift variant of the MEN1 gene contributes to multiple endocrine neoplasia type 1: a case report with review of literature
DOI: https://doi.org/10.1507/endocrj.ej25-0110

続きを表示（残り 56 件）

[2025] JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease
DOI: https://doi.org/10.1016/j.jjcc.2024.10.002
[2025] Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome
DOI: https://doi.org/10.1002/deo2.70266
[2025] Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan
DOI: https://doi.org/10.1002/ajmg.a.64232
[2025] Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contraction
DOI: https://doi.org/10.1371/journal.pone.0320943
[2024] A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis
DOI: https://doi.org/10.1002/mgg3.70044
[2024] High-density lipoprotein functionality in cholesterol efflux in early childhood is related to the content ratio of triglyceride to cholesterol
DOI: https://doi.org/10.1038/s41598-024-74699-5
[2024] JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease
DOI: https://doi.org/10.1253/circj.cj-23-0926
[2024] The recognition of Loeys–Dietz syndrome as a differential diagnosis
DOI: https://doi.org/10.4103/ds.ds-d-24-00123
[2024] Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study
DOI: https://doi.org/10.1080/13506129.2024.2357094
[2024] Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
DOI: https://doi.org/10.3389/fgene.2024.1383176
[2024] Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.
[2023] The detailed obstetric course of the first Japanese patient with <scp>AEBP1</scp>‐related <scp>Ehlers–Danlos</scp> syndrome (classical‐like <scp>EDS</scp>, type 2)
DOI: https://doi.org/10.1111/jog.15541
[2023] Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution‐based retrospective study
DOI: https://doi.org/10.1002/ajmg.a.63492
[2023] Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing
DOI: https://doi.org/10.1093/nar/gkad1140
[2023] A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency
DOI: https://doi.org/10.1210/clinem/dgad577
[2023] Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
DOI: https://doi.org/10.1002/jmd2.12392
[2023] Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
DOI: https://doi.org/10.3389/fgene.2023.1234804
[2023] Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy
DOI: https://doi.org/10.3389/fgene.2023.1238209
[2023] Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant
DOI: https://doi.org/10.2169/internalmedicine.1935-23
[2023] Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)
DOI: https://doi.org/10.3390/genes14071350
[2023] Homozygous splice site variant affecting the first von <scp>Willebrand</scp> factor <scp>A</scp> domain of <scp>COL12A1</scp> in a patient with myopathic <scp>Ehlers‐Danlos</scp> syndrome
DOI: https://doi.org/10.1002/ajmg.a.63328
[2023] Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease
DOI: https://doi.org/10.1016/j.ymgmr.2023.100983
[2023] Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
DOI: https://doi.org/10.3390/genes14051079
[2023] Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
DOI: https://doi.org/10.3389/fgene.2023.1102101
[2023] Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells
DOI: https://doi.org/10.3390/genes14030730
[2023] 5. Clinical Application of Cancer Clinical Sequencing
DOI: https://doi.org/10.2169/naika.112.454
[2023] Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
DOI: https://doi.org/10.2169/internalmedicine.1184-22
[2023] Genetic association analysis of 77,539 genomes reveals rare disease etiologies
DOI: https://doi.org/10.1038/s41591-023-02211-z
[2023] Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports
DOI: https://doi.org/10.1007/s12672-023-00623-4
[2023] Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers–Danlos Syndrome
DOI: https://doi.org/10.3390/genes14020308
[2023] A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant
DOI: https://doi.org/10.1016/j.rmcr.2023.101870
[2023] Nonidiopathic Pleuroparenchymal Fibroelastosis with a Novel Fibrillin-2 Gene Variant Characterized by the Expression of Prenatal Fibrillin-2 Antigen and the Aberrant Proliferation of Elastin and Reticular Fibers: A Case Report
DOI: https://doi.org/10.2139/ssrn.4387011
[2022] Atypical Sotos syndrome caused by a novel splice site variant
DOI: https://doi.org/10.1038/s41439-022-00219-4
[2022] Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers–Danlos Syndrome
DOI: https://doi.org/10.3390/genes13111978
[2022] Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system
DOI: https://doi.org/10.1002/ajmg.a.62982
[2022] Molecular Basis for Hypochondroplasia in Japan
DOI: https://doi.org/10.3390/endocrines3030034
[2022] Clinical and molecular features of patients with <scp>COL1</scp>‐related disorders: Implications for the wider spectrum and the risk of vascular complications
DOI: https://doi.org/10.1002/ajmg.a.62887
[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] Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
DOI: https://doi.org/10.1038/s10038-022-01016-1
[2022] Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence
DOI: https://doi.org/10.3389/fgene.2022.1017446
[2022] Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
DOI: https://doi.org/10.1212/nxg.0000000000200047
[2022] Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
DOI: https://doi.org/10.1002/humu.24437
[2021] Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
DOI: https://doi.org/10.1038/s41598-021-87168-0
[2021] A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome
DOI: https://doi.org/10.1007/s12185-021-03130-w
[2021] Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy
DOI: https://doi.org/10.1111/1346-8138.15766
[2021] Systematic investigation of the skin in Chst14-/- mice : A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHS14)
[2021] Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder
DOI: https://doi.org/10.1016/j.braindev.2021.11.006
[2021] Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities
DOI: https://doi.org/10.1007/978-3-030-80614-9_10
[2021] Heterozygous missense variant in <scp>TRPC6</scp> in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
DOI: https://doi.org/10.1002/ajmg.a.62216
[2021] Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
DOI: https://doi.org/10.1126/sciadv.abe2116
[2021] A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing
DOI: https://doi.org/10.1242/dmm.048963
[2021] Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
DOI: https://doi.org/10.1136/jmedgenet-2020-107623
[2021] Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation
DOI: https://doi.org/10.3389/fcell.2021.695021
[2021] Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in <scp>MAP3K7</scp>
DOI: https://doi.org/10.1002/ajmg.a.62516
[2021] Detailed clinical and radiological features of the first patient with <scp>Elsahy–Waters</scp> syndrome in East Asia
DOI: https://doi.org/10.1002/ajmg.a.62423
[2021] A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
DOI: https://doi.org/10.1038/s10038-021-00937-7

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AI 要約（直近 5 年の研究成果）

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研究成果（66 件）

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