Tomomi Yamaguchi 研究室

主宰者：Tomomi Yamaguchi

信州大学・Shinshu University Hospital

AI 要約（直近 5 年の研究成果）

この研究室は、遺伝子変異によって引き起こされる結合組織疾患の診断と病態メカニズムの解明に取り組んでいます。研究対象となるのは、皮膚や骨、血管など全身の結合組織に異常をきたす複数の遺伝性疾患です。これらの疾患では、コラーゲンやその他の構造タンパク質をコードする遺伝子に変異が生じることで、組織の脆弱性や異常な形態変化が生じます。診断法の開発が研究の重要な柱となっており、次世代シークエンシング技術を活用した遺伝子スクリーニングシステムを設計・構築しています。特に難しい遺伝子配列領域の正確な検出や、遺伝子の構造的異常の同定に注力しており、臨床診断の精度向上を目指しています。病態メカニズムの理解には、患者の皮膚組織を採取して培養し、人工多能性幹細胞（iPS細胞）由来の骨や線維芽細胞モデルを構築する手法を用いています。電子顕微鏡による超微細構造の観察や、結合組織成分の生化学的分析を行うことで、遺伝子変異がどのように組織構造の異常につながるのかを調べています。こうした基礎的知見は、より良い治療法の開発につながると期待されます。

※ 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（34 件）

[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] 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] 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] 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] Importance of Eliminating Potential Dental Focal Infection in Immunosuppressed Patients: A Retrospective Study in Patients with Acquired Immune Deficiency Syndrome
DOI: https://doi.org/10.1016/j.ijom.2025.04.249
[2024] The recognition of Loeys–Dietz syndrome as a differential diagnosis
DOI: https://doi.org/10.4103/ds.ds-d-24-00123
[2024] Suspected malnutrition-induced reversible feline skin fragility syndrome in a cat with congenital axial deformities.
[2024] JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease
DOI: https://doi.org/10.1253/circj.cj-23-0926
[2023] Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers–Danlos Syndrome Using Induced Pluripotent Stem Cells
DOI: https://doi.org/10.3390/genes14030730
[2023] A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant
DOI: https://doi.org/10.1016/j.rmcr.2023.101870

続きを表示（残り 24 件）

[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] 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] 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] 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] 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] 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] 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
[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] 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] Postnatal intracerebral hemorrhage with hereditary hemorrhagic telangiectasia
DOI: https://doi.org/10.1111/ped.15333
[2022] Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
DOI: https://doi.org/10.1212/nxg.0000000000200047
[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] 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] Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia
DOI: https://doi.org/10.1016/j.jaccas.2021.10.008
[2021] ATM immunohistochemistry as a potential marker for the differential diagnosis of no specific molecular profile subtype and POLE-mutation subtype endometrioid carcinoma
DOI: https://doi.org/10.1016/j.prp.2021.153743
[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] Direct next‐generation sequencing analysis using endometrial liquid‐based cytology specimens for rapid cancer genomic profiling
DOI: https://doi.org/10.1002/dc.24841
[2021] Sclerosing Polycystic Adenosis Arising in the Parotid Gland Without PI3K Pathway Mutations
DOI: https://doi.org/10.1007/s12105-021-01339-z
[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
[2021] Japan's Burakumin (Outcastes) Reconsidered: A Special Issue Refuting Ramseyer's Interpretation (Table of Contents)
DOI: https://doi.org/10.1017/s1557466021031065

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AI 要約（直近 5 年の研究成果）

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研究成果（34 件）

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