Takeshi Mizuguchi 研究室

主宰者：Takeshi Mizuguchi

横浜市立大学

AI 要約（直近 5 年の研究成果）

Mizuguchi研究室は、遺伝性疾患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研究に取り組んでいます。神経変性疾患、発達障害、奇形症候群、てんかんなど多様な疾患を対象として、患者由来の血液・組織サンプルから全遺伝子解析やリピート配列の詳細な解読を行い、責任遺伝子を特定しています。特にしばしば診断困難とされる分子診断陰性症例に対して、長読みシーケンシングなどの先進的な解析技術を適用し、従来の検査では見落とされていた構造変異や複雑なリピート構造を検出しています。研究の大きな柱として、神経内核封入体病などの稀少神経疾患の遺伝学的基盤の解明が挙げられます。複数の臨床症例を詳細に記録・分析しながら、遺伝子型と臨床表現型の関連性を調べています。また、患者由来の誘導多能性幹細胞（iPSC）を作製し、細胞レベルでの疾患機構の研究基盤を構築しています。さらに、核内リン脂質代謝の制御機構など細胞基礎生物学的なテーマにも取り組み、得られた知見が遺伝性疾患の理解に有用であることを示しています。これらの統合的なアプローチにより、診断困難な患者への実用的な遺伝学的ソリューション提供と、根本的な疾患メカニズム解明の両立を目指しています。

※ 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（79 件）

[2026] The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis
DOI: https://doi.org/10.1016/j.isci.2026.115860
[2025] Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant
DOI: https://doi.org/10.1038/s41439-025-00323-1
[2025] Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
DOI: https://doi.org/10.1038/s10038-025-01393-3
[2025] Non-coding repeat analyses in patients with Parkinson’s disease
DOI: https://doi.org/10.3389/fneur.2025.1606305
[2025] Epilepsy with myoclonic absences associated with a pathogenic CREBBP variant: A case report of Rubinstein–Taybi syndrome
DOI: https://doi.org/10.1016/j.seizure.2025.05.012
[2025] Hemizygous SMARCA1 variants cause X-linked intellectual disability
DOI: https://doi.org/10.1038/s10038-025-01346-w
[2025] Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
DOI: https://doi.org/10.17340/jkna.2024.0073
[2025] Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease
DOI: https://doi.org/10.1016/j.scr.2025.103717
[2025] Mosaic deletions detected by genome sequencing in two families
DOI: https://doi.org/10.1038/s10038-025-01336-y
[2025] Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea
DOI: https://doi.org/10.3988/jcn.2024.0526

続きを表示（残り 69 件）

[2025] Clinical and genetic spectrum of patients with IRF2BPL syndrome
DOI: https://doi.org/10.1038/s10038-025-01316-2
[2025] Triple mosaic variants of PURA in a patient with multiple congenital anomalies
DOI: https://doi.org/10.1038/s10038-024-01315-9
[2025] Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01442-x
[2025] Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity
DOI: https://doi.org/10.1038/s10038-025-01431-0
[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] Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8
DOI: https://doi.org/10.1016/j.jaccas.2025.105825
[2025] Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants
DOI: https://doi.org/10.1016/j.ejmg.2025.105047
[2025] Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
DOI: https://doi.org/10.1186/s12886-025-04401-4
[2024] A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in CDK13 in a female patient with CDK13-related disorder: A case report and literature review of 112 cases
DOI: https://doi.org/10.1016/j.bdcasr.2024.100023
[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] Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
DOI: https://doi.org/10.1136/jmg-2023-109621
[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] Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up
DOI: https://doi.org/10.3389/fneur.2024.1347646
[2024] A female case of L1 syndrome that may have developed due to skewed X inactivation
DOI: https://doi.org/10.1016/j.braindev.2024.03.001
[2024] Association of Finger Tapping Movements with Frailty Status in older Japanese Adults: A Cross-Sectional Study
DOI: https://doi.org/10.14283/jfa.2024.34
[2024] Biallelic missense CEP55 variants cause prenatal MARCH syndrome
DOI: https://doi.org/10.1038/s10038-024-01298-7
[2024] A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
DOI: https://doi.org/10.1038/s41439-024-00291-y
[2024] Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
DOI: https://doi.org/10.1136/jnnp-2024-333541
[2023] Synchronous heart rate reduction with suppression‐burst pattern in KCNT1‐related developmental and epileptic encephalopathies
DOI: https://doi.org/10.1002/epi4.12705
[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] Abnormal axonal development and severe epileptic phenotype in Dynamin‐1 (<scp>DNM1</scp>) encephalopathy
DOI: https://doi.org/10.1002/epd2.20181
[2023] PB0211 The Utilities of Multiple Genetic Analyses for Rare Coagulation Deficiencies and Rare Bleeding Disorders
DOI: https://doi.org/10.1016/j.rpth.2023.101283
[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 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] Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy
DOI: https://doi.org/10.26508/lsa.202302025
[2023] Molecular diagnosis of 405 individuals with autism spectrum disorder
DOI: https://doi.org/10.1038/s41431-023-01335-7
[2023] A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
DOI: https://doi.org/10.1016/j.braindev.2023.03.001
[2023] NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy
DOI: https://doi.org/10.1161/strokeaha.122.041848
[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
[2023] A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants
DOI: https://doi.org/10.1016/j.radcr.2022.11.033
[2022] Distal 2q duplication in a patient with intellectual disability
DOI: https://doi.org/10.1038/s41439-022-00215-8
[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] Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease
DOI: https://doi.org/10.3988/jcn.2022.18.3.358
[2022] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
DOI: https://doi.org/10.1038/s41525-022-00331-y
[2022] Monogenic causes of pigmentary mosaicism
DOI: https://doi.org/10.1007/s00439-022-02437-w
[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] 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] Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy
DOI: https://doi.org/10.1093/brain/awac135
[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] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
DOI: https://doi.org/10.1016/j.ygeno.2022.110468
[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
[2021] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms
DOI: https://doi.org/10.1038/s10038-021-00986-y
[2021] GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
DOI: https://doi.org/10.1212/wnl.0000000000013008
[2021] Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome
DOI: https://doi.org/10.1002/humu.24287
[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] Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions
DOI: https://doi.org/10.2169/internalmedicine.7767-21
[2021] De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
DOI: https://doi.org/10.1093/hmg/ddab224
[2021] Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
DOI: https://doi.org/10.1038/s41439-021-00165-7
[2021] Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder
DOI: https://doi.org/10.1038/s10038-020-00893-8
[2021] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
DOI: https://doi.org/10.1016/j.ajhg.2021.01.007
[2021] Development of Hammering Test Robot for Labor-Saving Inspection
DOI: https://doi.org/10.1299/jsmeicam.2021.7.gs1-3
[2021] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
DOI: https://doi.org/10.3389/fcell.2021.631428
[2021] Complete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment
DOI: https://doi.org/10.1093/brain/awab021
[2021] Novel CLTC variants cause new brain and kidney phenotypes
DOI: https://doi.org/10.1038/s10038-021-00957-3
[2021] Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
DOI: https://doi.org/10.1016/j.braindev.2021.07.007
[2021] De novo ATP1A3 variants cause polymicrogyria
DOI: https://doi.org/10.1126/sciadv.abd2368
[2021] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
DOI: https://doi.org/10.1038/s41467-021-22389-5
[2021] Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
DOI: https://doi.org/10.1007/s00439-021-02283-2
[2021] Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
DOI: https://doi.org/10.1016/j.braindev.2021.04.011
[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

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AI 要約（直近 5 年の研究成果）

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研究成果（79 件）

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