Naomi Tsuchida 研究室

主宰者：Naomi Tsuchida

横浜市立大学・Yokohama City University Hospital

AI 要約（直近 5 年の研究成果）

この研究室は、遺伝子の異常が引き起こす難治性疾患の原因解明と診断方法の開発に取り組んでいます。特に、発達遅延や知的障害、てんかん、脊髄小脳変性症、自己炎症性疾患など、従来の遺伝子検査では診断が難しい疾患の患者を対象に、ゲノム全体の構造的変異や塩基配列の変異、遺伝子の発現パターンの異常などを多角的に調査します。主な研究手法として、長鎖DNA読み取り技術やナノポア・シーケンシング、光学ゲノムマッピング、全ゲノム・全エクソン解析などの先進的な遺伝子解析技術を組み合わせています。これらの技術により、従来の短鎖読み取り法では見落とされやすい大規模な遺伝子配列の異常や複雑な配列変異を正確に検出できます。また、RNA解析やメチル化パターン解析なども統合し、遺伝子の機能異常をより包括的に評価しています。研究成果としては、これまで未診断だった患者から新たな病因遺伝子を発見したり、特定の遺伝子変異と病態の関連性を明らかにしたり、診断精度の向上に繋がる臨床スコアリングシステムを開発したりしています。こうした基礎的な知見は、遺伝性疾患の患者が正確に診断を受け、適切な治療を選択する上で重要な役割を果たしています。

※ 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（71 件）

[2026] Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
DOI: https://doi.org/10.1038/s41525-026-00561-4
[2025] Triple mosaic variants of PURA in a patient with multiple congenital anomalies
DOI: https://doi.org/10.1038/s10038-024-01315-9
[2025] A boy with drug-resistant epilepsy and aortopulmonary collateral arteries arising from a KCNT1 variant
DOI: https://doi.org/10.1016/j.bdcasr.2024.100060
[2025] [A CASE OF VACUOLES, E1 ENZYME, X-LINKED, AUTOINFLAMMATORY, SOMATIC (VEXAS) SYNDROME PRESENTING WITH DIVERSE PULMONARY LESIONS OVER TIME].
DOI: https://doi.org/10.15036/arerugi.74.159
[2025] Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome
DOI: https://doi.org/10.1038/s10038-025-01419-w
[2025] Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01442-x
[2025] Un variant de CDC42 révèle une nouvelle maladie auto-inflammatoire et le mécanisme d’activation de l’inflammasome pyrine
DOI: https://doi.org/10.1016/j.rhum.2025.10.421
[2025] Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
DOI: https://doi.org/10.1038/s10038-025-01431-0
[2025] High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study
DOI: https://doi.org/10.1093/mr/roaf095
[2025] Comparative effectiveness and safety of peficitinib and abatacept for rheumatoid arthritis: a multicentre, inverse probability weighting analysis
DOI: https://doi.org/10.1093/mr/roaf094

続きを表示（残り 61 件）

[2025] A practical framework for predicting splicing single nucleotide variants in exome sequencing
DOI: https://doi.org/10.1093/nargab/lqaf180
[2025] A case of Baraitser–Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing
DOI: https://doi.org/10.1038/s41439-025-00319-x
[2025] Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
DOI: https://doi.org/10.1038/s10038-025-01393-3
[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] Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series
DOI: https://doi.org/10.1002/ajmg.a.64209
[2025] Hemizygous SMARCA1 variants cause X-linked intellectual disability
DOI: https://doi.org/10.1038/s10038-025-01346-w
[2025] Mosaic deletions detected by genome sequencing in two families
DOI: https://doi.org/10.1038/s10038-025-01336-y
[2025] Clinical and genetic spectrum of patients with IRF2BPL syndrome
DOI: https://doi.org/10.1038/s10038-025-01316-2
[2025] Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature
DOI: https://doi.org/10.1186/s13148-025-01832-0
[2024] Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies
DOI: https://doi.org/10.1016/j.ygeno.2024.110894
[2024] Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
DOI: https://doi.org/10.1038/s10038-023-01217-2
[2024] Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
DOI: https://doi.org/10.1038/s10038-024-01219-8
[2024] A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant
DOI: https://doi.org/10.1007/s12185-024-03751-x
[2024] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
[2024] Biallelic missense CEP55 variants cause prenatal MARCH syndrome
DOI: https://doi.org/10.1038/s10038-024-01298-7
[2024] Inflammatory myopathy following COVID-19 mRNA vaccination in a patient with VEXAS syndrome
DOI: https://doi.org/10.1684/ejd.2024.4760
[2024] Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome
[2024] Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
DOI: https://doi.org/10.3389/fnins.2024.1437668
[2024] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
DOI: https://doi.org/10.1136/jnnp-2024-333541
[2023] Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy
DOI: https://doi.org/10.26508/lsa.202302025
[2023] A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
DOI: https://doi.org/10.1038/s10038-023-01209-2
[2023] Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
DOI: https://doi.org/10.1038/s10038-023-01206-5
[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] Protective effect of hydroxychloroquine on infections in patients with systemic lupus erythematosus: an observational study using the LUNA registry
DOI: https://doi.org/10.3389/fimmu.2023.1227403
[2023] Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome
DOI: https://doi.org/10.1093/rheumatology/kead425
[2023] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
DOI: https://doi.org/10.1038/s10038-023-01187-5
[2023] Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: A case report
DOI: https://doi.org/10.1093/mrcr/rxad041
[2023] X-linked intellectual disability related to a novel variant of KLHL15
DOI: https://doi.org/10.1038/s41439-023-00248-7
[2023] A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
DOI: https://doi.org/10.1038/s41598-023-36381-0
[2023] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
DOI: https://doi.org/10.1038/s10038-023-01170-0
[2023] Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome
DOI: https://doi.org/10.1007/s12185-023-03598-8
[2023] An integrated genetic analysis of epileptogenic brain malformed lesions
DOI: https://doi.org/10.1186/s40478-023-01532-x
[2023] Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
DOI: https://doi.org/10.1101/gr.277335.122
[2023] A novel NONO variant that causes developmental delay and cardiac phenotypes
DOI: https://doi.org/10.1038/s41598-023-27770-6
[2023] Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism
DOI: https://doi.org/10.1038/s10038-022-01117-x
[2022] De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
DOI: https://doi.org/10.1111/cge.14133
[2022] SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
DOI: https://doi.org/10.1016/j.gim.2022.02.013
[2022] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
DOI: https://doi.org/10.1007/s00439-021-02416-7
[2022] Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication
DOI: https://doi.org/10.1016/j.ebr.2022.100547
[2022] Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> AFF3 </scp> variants
DOI: https://doi.org/10.1111/cge.14292
[2022] A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
DOI: https://doi.org/10.1038/s10038-022-01098-x
[2022] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
DOI: https://doi.org/10.1016/j.gim.2022.08.007
[2022] Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan
DOI: https://doi.org/10.3389/fimmu.2022.901063
[2022] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
DOI: https://doi.org/10.1038/s41525-022-00331-y
[2022] Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome
DOI: https://doi.org/10.1093/mrcr/rxac082
[2022] Characteristic features of electroencephalogram in a pediatric patient with GRIN1 encephalopathy
DOI: https://doi.org/10.1016/j.dscb.2022.100056
[2022] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
DOI: https://doi.org/10.1016/j.ygeno.2022.110468
[2022] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype
DOI: https://doi.org/10.1016/j.ygeno.2022.110469
[2022] Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa
DOI: https://doi.org/10.1002/art.42257
[2022] Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome
DOI: https://doi.org/10.3389/fimmu.2022.897722
[2022] Monogenic causes of pigmentary mosaicism
DOI: https://doi.org/10.1007/s00439-022-02437-w
[2022] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
DOI: https://doi.org/10.1186/s13073-022-01042-w
[2021] Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
DOI: https://doi.org/10.1038/s10038-021-00978-y
[2021] A novel LRP6 variant in a Japanese family with oligodontia
DOI: https://doi.org/10.1038/s41439-021-00162-w
[2021] Novel CLTC variants cause new brain and kidney phenotypes
DOI: https://doi.org/10.1038/s10038-021-00957-3
[2021] Complete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment
DOI: https://doi.org/10.1093/brain/awab021
[2021] Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis
DOI: https://doi.org/10.1136/annrheumdis-2021-220089
[2021] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
DOI: https://doi.org/10.1186/s13148-021-01192-5
[2021] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
DOI: https://doi.org/10.1038/s10038-021-00986-y
[2021] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome
DOI: https://doi.org/10.1093/brain/awab363
[2021] De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
DOI: https://doi.org/10.1093/hmg/ddab224

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AI 要約（直近 5 年の研究成果）

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関連研究室(8 件)

研究成果（71 件）

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