Yuri Uchiyama 研究室

主宰者：Yuri Uchiyama

横浜市立大学・Yokohama City University Hospital

AI 要約（直近 5 年の研究成果）

内山裕司研究室は、遺伝子診断技術を用いた希少疾患の原因解明を主要な研究テーマとしています。研究チームは、次世代シーケンシングや光学的ゲノムマッピング、ナノポア長鎖シーケンシングといった最新のゲノム解析手法を活用して、知的障害や発達遅滞、小脳失調などの神経発達疾患、および自己炎症性疾患など複雑な遺伝的背景を持つ患者の遺伝的原因を特定する取り組みを行っています。特に構造変異（重複や欠失、転座など）のような従来の検査では検出困難な変異の同定に注力しており、複数の技術を組み合わせることで、詳細な分子診断を実現しています。加えて、研究室では新たな疾患遺伝子の発見にも力を注いでいます。スプライシング関連遺伝子の変異が神経発達疾患を引き起こすメカニズムや、U4スプライセオソーム成分の異常による症候群など、遺伝子発現制御の異常に関連する疾患群を明らかにしています。これらの知見は患者への正確な遺伝学的カウンセリングや治療方針の決定に貢献しており、診断困難な希少疾患患者の救済へ向けた臨床応用を進めています。

※ 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（89 件）

[2026] Seasonal variation of salt intake in patients with chronic kidney disease correlates with that of systolic blood pressure in males in summer
DOI: https://doi.org/10.1007/s10157-026-02871-4
[2026] WCN26-5208 IMPACT OF HYPOPHOSPHATEMIA ON MAINTENANCE HEMODIALYSIS PATIENTS IN THE INTENSIVE CARE UNIT
DOI: https://doi.org/10.1016/j.ekir.2026.105260
[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
[2026] WCN26-4739 THE NEW SALT QUESTIONNAIRE PROVIDES A MORE ACCURATE ASSESSMENT OF DIETARY SALT INTAKE
DOI: https://doi.org/10.1016/j.ekir.2026.104792
[2025] Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
DOI: https://doi.org/10.1038/s10038-025-01442-x
[2025] SLF2 and SMC5 are novel causative genes for inherited bone marrow failure syndromes, driving HSC aging and predisposing to MDS
DOI: https://doi.org/10.1182/blood-2025-4989
[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] Mosaic deletions detected by genome sequencing in two families
DOI: https://doi.org/10.1038/s10038-025-01336-y
[2025] An atypical case of proliferative glomerulonephritis with monoclonal Immunoglobulin G1 κ deposits with organized structural deposits
DOI: https://doi.org/10.1007/s13730-025-01037-7

続きを表示（残り 79 件）

[2025] Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants
DOI: https://doi.org/10.1186/s12886-025-04401-4
[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] A practical framework for predicting splicing single nucleotide variants in exome sequencing
DOI: https://doi.org/10.1093/nargab/lqaf180
[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] Sodium appetite is enhanced in 5/6 nephrectomized rat by high-sodium diet via increased levels of angiotensin II in the subfornical organ
DOI: https://doi.org/10.1038/s41440-025-02289-7
[2025] A Clinical Study of Nine Patients With <scp>ReNU</scp> Syndrome
DOI: https://doi.org/10.1002/ajmg.a.64151
[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] Triple mosaic variants of PURA in a patient with multiple congenital anomalies
DOI: https://doi.org/10.1038/s10038-024-01315-9
[2025] P335: Exome sequencing for diagnostic investigation of 267 children from Brazilian public health system (SUS) followed by reanalysis of negative/inconclusive cases
DOI: https://doi.org/10.1016/j.gimo.2025.102300
[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] 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] Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3
DOI: https://doi.org/10.1016/j.ejmg.2025.105058
[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] [Perioperative management for fracture in a child with homozygous congenital protein C deficiency].
DOI: https://doi.org/10.11406/rinketsu.65.164
[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] Effects of salt reduction education from a salt questionnaire on inter-dialysis weight gain in patients on hemodialysis
DOI: https://doi.org/10.1007/s10157-024-02541-3
[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] An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
DOI: https://doi.org/10.1186/s12887-024-04774-3
[2024] Teriparatide-Associated Hypercalcemia Concomitant With Acute Kidney Injury: A Case-Report
DOI: https://doi.org/10.7759/cureus.54263
[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] 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] Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant
DOI: https://doi.org/10.2169/internalmedicine.1935-23
[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 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] Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
DOI: https://doi.org/10.1172/jci171235
[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] 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] 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] Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome
DOI: https://doi.org/10.1007/s12185-023-03598-8
[2023] Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome
DOI: https://doi.org/10.1097/ico.0000000000003281
[2023] Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
DOI: https://doi.org/10.1016/j.ajhg.2023.03.001
[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] 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] 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
[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] Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
DOI: https://doi.org/10.1038/s41467-022-34349-8
[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] Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome
DOI: https://doi.org/10.1093/mrcr/rxac082
[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] Monogenic causes of pigmentary mosaicism
DOI: https://doi.org/10.1007/s00439-022-02437-w
[2022] Sibling cases of gross hematuria and newly diagnosed IgA nephropathy following SARS-CoV-2 vaccination
DOI: https://doi.org/10.1186/s12882-022-02843-2
[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] 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] Lower bicarbonate level is associated with CKD progression and all-cause mortality: a propensity score matching analysis
DOI: https://doi.org/10.1186/s12882-022-02712-y
[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] A Case of M-Type Phospholipase A2 Receptor-Associated Membranous Nephropathy With IgG4-Positive Cells Infiltration in the Interstitium
DOI: https://doi.org/10.1177/11795476221078635
[2022] [Spontaneous disappearance of the inhibitor during emicizumab therapy in a patient with mild hemophilia A].
DOI: https://doi.org/10.11406/rinketsu.63.1392
[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] 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] 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] 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] 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] Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1‐RUNX1T1 transcripts
DOI: https://doi.org/10.1111/bjh.17569
[2021] Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
DOI: https://doi.org/10.1038/s41436-021-01222-w
[2021] A novel somatic mutation inGNB2provides new insights to the pathogenesis of Sturge–Weber syndrome
DOI: https://doi.org/10.1093/hmg/ddab144
[2021] Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis
DOI: https://doi.org/10.1136/annrheumdis-2021-220089

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AI 要約（直近 5 年の研究成果）

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