Kohei Hamanaka 研究室

主宰者：Kohei Hamanaka

横浜市立大学

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝性疾患や神経発達障害の原因となる遺伝子変異を同定し、その発症メカニズムを解明することを主たる目的としています。特に、次世代シーケンシングやナノポア長読領域シーケンシング、光学ゲノムマッピングといった先端的なゲノム解析技術を駆使して、従来の検査では検出困難な様々なタイプの遺伝変異を検出しています。これらの手法により、単一塩基変異から大規模な構造変異まで、多様な遺伝的異常を包括的に捉えることが可能です。具体的には、知的障害や発達遅延、てんかん、神経変性疾患などを対象に、患者のゲノムデータを詳細に解析しています。特に興味深いのは、スプライシング異常や反復配列の拡大、エピジェネティック変化（DNAメチル化など）を検出する研究です。RNA発現解析と組み合わせることで、遺伝学的変異が実際にタンパク質産生や遺伝子機能にどのような影響を与えるかを機能レベルで評価しています。さらに本研究室では、臨床診断への応用を意識した研究も進めています。遺伝子変異の病原性を予測する評価枠組みの構築や、診断が困難な症例に対する新しい遺伝原因の同定など、基礎研究と臨床実践の橋渡しを行うことで、未診断疾患の患者の診断・治療に貢献することを目指しています。

※ 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（53 件）

[2026] Episodic ataxia type 2 with a novel CACNA1A variant: A video case report
DOI: https://doi.org/10.1016/j.clineuro.2026.109457
[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] Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
DOI: https://doi.org/10.1038/s10038-025-01431-0
[2025] A practical framework for predicting splicing single nucleotide variants in exome sequencing
DOI: https://doi.org/10.1093/nargab/lqaf180
[2025] P2.06.47 Axl Receptor Shedding and EMT in Lung Adenocarcinoma: Prognostic Implications Based on STAS
DOI: https://doi.org/10.1016/j.jtho.2025.09.581
[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] Mosaic deletions detected by genome sequencing in two families
DOI: https://doi.org/10.1038/s10038-025-01336-y
[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
[2025] Clinical and genetic spectrum of patients with IRF2BPL syndrome
DOI: https://doi.org/10.1038/s10038-025-01316-2
[2025] A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness
DOI: https://doi.org/10.7759/cureus.78945

続きを表示（残り 43 件）

[2025] Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01442-x
[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] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
[2024] Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report
DOI: https://doi.org/10.3389/fgene.2024.1410979
[2024] Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies
DOI: https://doi.org/10.1016/j.ygeno.2024.110894
[2024] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
DOI: https://doi.org/10.1136/jnnp-2024-333541
[2024] Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B
DOI: https://doi.org/10.1016/j.parkreldis.2024.107018
[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] 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
[2023] Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
DOI: https://doi.org/10.1038/s10038-023-01170-0
[2023] Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy
DOI: https://doi.org/10.26508/lsa.202302025
[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
[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] An integrated genetic analysis of epileptogenic brain malformed lesions
DOI: https://doi.org/10.1186/s40478-023-01532-x
[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] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
DOI: https://doi.org/10.1038/s10038-023-01187-5
[2023] A novel NONO variant that causes developmental delay and cardiac phenotypes
DOI: https://doi.org/10.1038/s41598-023-27770-6
[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
[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] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
DOI: https://doi.org/10.1016/j.ygeno.2022.110468
[2022] Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology
DOI: https://doi.org/10.1126/sciadv.abm5029
[2022] Monogenic causes of pigmentary mosaicism
DOI: https://doi.org/10.1007/s00439-022-02437-w
[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] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
DOI: https://doi.org/10.1016/j.gim.2022.09.010
[2022] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
DOI: https://doi.org/10.1016/j.gim.2022.08.007
[2022] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
DOI: https://doi.org/10.1038/s41525-022-00331-y
[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
[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] Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant
DOI: https://doi.org/10.1111/ped.15031
[2022] A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene
DOI: https://doi.org/10.5692/clinicalneurol.cn-001773
[2021] Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
DOI: https://doi.org/10.1186/s12920-021-01139-y
[2021] aaa
DOI: https://doi.org/10.5281/zenodo.5728678
[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] Pathogenic variants in the survival of motor neurons complex gene <scp> GEMIN5 </scp> cause cerebellar atrophy
DOI: https://doi.org/10.1111/cge.14066
[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] De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
DOI: https://doi.org/10.1093/hmg/ddab224
[2021] Novel CLTC variants cause new brain and kidney phenotypes
DOI: https://doi.org/10.1038/s10038-021-00957-3
[2021] Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
DOI: https://doi.org/10.1038/s41467-021-23453-w
[2021] De novo ATP1A3 variants cause polymicrogyria
DOI: https://doi.org/10.1126/sciadv.abd2368
[2021] Refinement of the clinical variant interpretation framework by statistical evidence and machine learning
DOI: https://doi.org/10.1016/j.medj.2021.02.003

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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（53 件）

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