Atsushi Fujita 研究室

主宰者：Atsushi Fujita

横浜市立大学

AI 要約（直近 5 年の研究成果）

本研究室は、遺伝子変異や遺伝的異常が引き起こす神経発達障害や神経変性疾患の解明を中心に研究を進めています。特に、発達遅延、てんかん、小頭症、脊髄性筋萎縮症といった多様な神経系疾患の患者から採取した検体を用いて、その原因となる遺伝的変異を同定することに取り組んでいます。患者の臨床症状と遺伝学的知見を統合することで、疾患メカニズムの理解を深めています。診断手法としては、長鎖読み取りシーケンシングやナノポア技術などの次世代シーケンシング技術を積極的に導入しています。これらの最新技術により、従来の検査では検出困難だった複雑な構造異常や繰り返し配列の異常の検出が可能になりました。さらに、RNA解析や長さの可変な遺伝子領域（タンデム反復配列）の全ゲノム解析を組み合わせることで、より包括的な診断アプローチを実現しています。動物モデルやヒト培養細胞を用いた機能解析も実施しており、同定された遺伝子変異が実際にどのようなタンパク質機能の障害をもたらすのかを明らかにしています。これにより、遺伝的変異から臨床症状に至るまでの因果関係を実験的に検証し、患者の正確な診断と将来的な治療法開発への基盤を構築しています。

※ 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（75 件）

[2026] WCN26-3555 Altered Localization of the CUBN–AMN Complex in Renal Tissue of a Patient with PROCHOB
DOI: https://doi.org/10.1016/j.ekir.2026.105104
[2026] CUBN-AMN pathway loss in chronic benign proteinuria
DOI: https://doi.org/10.1016/j.kint.2026.03.023
[2025] Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
DOI: https://doi.org/10.1016/j.ajhg.2025.10.014
[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] Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
DOI: https://doi.org/10.1038/s10038-025-01393-3
[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] Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
DOI: https://doi.org/10.1038/s41431-025-01802-3
[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

続きを表示（残り 65 件）

[2025] Triple mosaic variants of PURA in a patient with multiple congenital anomalies
DOI: https://doi.org/10.1038/s10038-024-01315-9
[2025] Clinical and genetic spectrum of patients with IRF2BPL syndrome
DOI: https://doi.org/10.1038/s10038-025-01316-2
[2025] Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01442-x
[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] Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
DOI: https://doi.org/10.1038/s41525-024-00437-5
[2024] Biallelic missense CEP55 variants cause prenatal MARCH syndrome
DOI: https://doi.org/10.1038/s10038-024-01298-7
[2024] Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant
DOI: https://doi.org/10.1186/s12883-024-03823-9
[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] Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report
DOI: https://doi.org/10.1016/j.braindev.2024.04.001
[2024] Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant
DOI: https://doi.org/10.1038/s10038-024-01250-9
[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] Heterozygous c.<scp>175C</scp>>T variant in PURA gene causes severe developmental delay
DOI: https://doi.org/10.1002/ccr3.7779
[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] Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
DOI: https://doi.org/10.1016/j.ejmg.2023.104895
[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] Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation
DOI: https://doi.org/10.1038/s10038-023-01187-5
[2023] Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
DOI: https://doi.org/10.1016/j.braindev.2023.06.009
[2023] A Safer, Smaller, Cleaner Subcritical Thorium Fission—Muonic Fusion Hybrid Reactor
DOI: https://doi.org/10.1080/15361055.2023.2204996
[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] Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan
DOI: https://doi.org/10.3389/fneur.2023.1085228
[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] Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling
DOI: https://doi.org/10.1016/j.heliyon.2023.e14712
[2023] An integrated genetic analysis of epileptogenic brain malformed lesions
DOI: https://doi.org/10.1186/s40478-023-01532-x
[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 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] 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] 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] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
DOI: https://doi.org/10.1038/s41525-022-00331-y
[2022] ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
DOI: https://doi.org/10.1016/j.braindev.2022.08.009
[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] Metallic/magnetic Multilayer for Wide-band Direct-on-chip EMI Shielding
DOI: https://doi.org/10.1109/emcsi39492.2022.10050239
[2022] Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes
DOI: https://doi.org/10.1038/s41398-022-02033-6
[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
[2022] De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
DOI: https://doi.org/10.1111/cge.14133
[2022] Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions
DOI: https://doi.org/10.1186/s40478-022-01333-8
[2022] Sirolimus for epileptic seizures associated with focal cortical dysplasia type <scp>II</scp>
DOI: https://doi.org/10.1002/acn3.51505
[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] New Magnetic Multilayer for a Direct On-chip EMI Shielding Layer on a Mold Substrate in the sub-100 MHz Frequency Range
DOI: https://doi.org/10.1109/intermag39746.2022.9827778
[2022] Incomplete Hippocampal Inversion in Patients with Mutations in Genes Involved in Sonic Hedgehog Signaling
DOI: https://doi.org/10.2139/ssrn.4254449
[2021] A homozygous <scp> ABHD16A </scp> variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face
DOI: https://doi.org/10.1111/cge.14097
[2021] Correlations of mRNA Levels among Efflux Transporters, Transcriptional Regulators, and Scaffold Proteins in Non-Small-Cell Lung Cancer
DOI: https://doi.org/10.1155/2021/4005327
[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] Wide band direct on-chip EMI shielding layer with metallic/magnetic multilayer
DOI: https://doi.org/10.1016/j.jmmm.2021.168339
[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] A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
DOI: https://doi.org/10.1038/s41439-021-00155-9
[2021] Complete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment
DOI: https://doi.org/10.1093/brain/awab021
[2021] A partial ARID1B deletion in a female child with intractable epilepsy
DOI: https://doi.org/10.3805/eands.13.45

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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（75 件）

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