Yasushi Okazaki 研究室

主宰者：Yasushi Okazaki

順天堂大学

AI 要約（直近 5 年の研究成果）

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※ 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（100 件）

[2026] Distinct mitochondrial-derived vesicle pathways connect mitochondria with peroxisomes and lysosomes
DOI: https://doi.org/10.1016/j.mito.2026.102167
[2026] Molecular Analysis of Biliary Tract Neoplasms Associated with Familial Adenomatous Polyposis
DOI: https://doi.org/10.23922/jarc.2025-117
[2026] Genetic Landscape and Prognostic Factors in Pediatric Mitochondrial Cardiomyopathy: A 20-Year Comprehensive Study
DOI: https://doi.org/10.1016/j.jmccpl.2025.100584
[2026] Mito_Plot: open-source pipeline for quantification and visualization of mitochondrial DNA heteroplasmy
DOI: https://doi.org/10.1186/s12859-026-06476-2
[2025] Functional Screening of <scp>NDUFAF6</scp> Variants in Knockout Cells and Complementary Computational Analysis
DOI: https://doi.org/10.1002/jcla.70147
[2025] Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing
DOI: https://doi.org/10.1212/nxg.0000000000200330
[2025] Table S3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709710
[2025] Table S1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709722
[2025] Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709725
[2025] Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709716

続きを表示（残り 90 件）

[2025] Fontaine progeroid syndrome with neonatal mitochondrial disease
DOI: https://doi.org/10.1038/s41439-025-00331-1
[2025] A DNA2 mutation in the ATP-binding motif identified in a diagnostically unresolved individual
DOI: https://doi.org/10.3389/fmolb.2025.1706392
[2025] Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia
DOI: https://doi.org/10.1016/j.ymgmr.2025.101266
[2025] Mitochondrial DNA variants in normal skins: Insights into prevalent pathogenic variants and quality control surveillance
DOI: https://doi.org/10.1016/j.mito.2025.102081
[2025] Kinome analysis of Madurella mycetomatis identified kinases in the cell wall integrity pathway as novel potential therapeutic drug targets in eumycetoma caused by Madurella mycetomatis
DOI: https://doi.org/10.1371/journal.pntd.0013482
[2025] A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region
DOI: https://doi.org/10.1038/s41439-025-00320-4
[2025] 1962P PD-L1 expression levels in EGFR-mutant non-small cell lung cancer as a potential selection marker for chemotherapy combination regimens after EGFR-TKI therapy: A real-world observational study
DOI: https://doi.org/10.1016/j.annonc.2025.08.2586
[2025] Isoform analysis of heterozygous putative splicing variants at the allele level using nanopore long-read sequencing
DOI: https://doi.org/10.1038/s41598-025-14566-z
[2025] Mitochondrial Nephropathy With m. <scp>5538G>A</scp> Mutation Within the <scp>tRNA</scp> ‐Trp Region Assessed by Mitochondrial Function Analysis: A Case Report
DOI: https://doi.org/10.1111/nep.70153
[2025] Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study
DOI: https://doi.org/10.3390/life15081168
[2025] Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
DOI: https://doi.org/10.1038/s10038-025-01356-8
[2025] Iron regulatory pathways differentially expressed during Madurella mycetomatis grain development in Galleria mellonella
DOI: https://doi.org/10.1038/s41467-025-60875-2
[2025] Iron regulatory pathways differentially expressed during Madurella mycetomatis grain development in Galleria mellonella
[2025] Comparison of Somatic Mutations in Primary Squamous Cell Carcinomas of the Hypopharynx and the Esophagus Developed in Individual Patients
DOI: https://doi.org/10.1002/hed.28220
[2025] Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia
DOI: https://doi.org/10.1016/j.braindev.2025.104380
[2025] Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
DOI: https://doi.org/10.1167/iovs.66.6.17
[2025] Prolonged progression-free survival on epidermal growth factor receptor-tyrosine kinase inhibitors predicts superior response to atezolizumab-based therapy over chemotherapy in epidermal growth factor receptor-mutated non-small-cell lung cancer following progression
DOI: https://doi.org/10.1016/j.esmorw.2025.100152
[2025] PPARγ-induced upregulation of fatty acid metabolism confers resistance to venetoclax and decitabine therapy in AML
DOI: https://doi.org/10.1016/j.bneo.2025.100121
[2025] Pleiotropic effects of MORC2 derive from its epigenetic signature
DOI: https://doi.org/10.1093/brain/awaf159
[2025] Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis
DOI: https://doi.org/10.1016/j.ymgme.2025.109113
[2025] Channel synapse mediates neurotransmission of airway protective chemoreflexes
DOI: https://doi.org/10.1016/j.cell.2025.03.007
[2025] Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics
DOI: https://doi.org/10.1126/sciadv.adq1575
[2025] Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity
DOI: https://doi.org/10.1016/j.xgen.2025.100783
[2025] A Newly Identified Spliceosomal Protein AHED Is Essential for Homeostasis of the Epidermis
DOI: https://doi.org/10.1016/j.jid.2025.01.025
[2025] ER-mitochondria contacts mediate lipid radical transfer via RMDN3/PTPIP51 phosphorylation to reduce mitochondrial oxidative stress
DOI: https://doi.org/10.1038/s41467-025-56666-4
[2025] A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
DOI: https://doi.org/10.1016/j.ymgmr.2025.101198
[2025] Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals
DOI: https://doi.org/10.1016/j.braindev.2025.104497
[2025] Betagenin ameliorates diabetes by inducing insulin secretion and β-cell proliferation
DOI: https://doi.org/10.1016/j.jbc.2025.108202
[2025] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
DOI: https://doi.org/10.1002/mgg3.70048
[2025] P204: Impact of measuring mitochondrial DNA heteroplasmy rates using different tissues in 103 patients with mitochondrial disease
DOI: https://doi.org/10.1016/j.gimo.2025.102169
[2025] P013: Advances in multi-omics diagnostics studies of mitochondrial diseases in Japan
DOI: https://doi.org/10.1016/j.gimo.2025.102857
[2025] A rare mitochondrial disease with infantile severe metabolic disturbances that improved spontaneously
DOI: https://doi.org/10.1111/ped.70052
[2025] A Case of Shunt Vessel Closure for Symptomatic Congenital Portosystemic Shunt with Simultaneous Pancreatoduodenectomy
DOI: https://doi.org/10.70352/scrj.cr.25-0126
[2025] Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers
DOI: https://doi.org/10.23922/jarc.2024-092
[2024] Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study
DOI: https://doi.org/10.23922/jarc.2024-030
[2024] Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1
DOI: https://doi.org/10.1007/s13730-024-00948-1
[2024] [Billroth Ⅱ Reconstruction Focusing on Robotic Sewing Ability after Robot-Assisted Gastrectomy].
[2024] Variants in <scp>MICOS10</scp> Identified by Whole Genome Sequencing and <scp>RNA</scp> Sequencing in a New Type of Hepatocerebral Mitochondrial <scp>DNA</scp> Depletion Syndrome
DOI: https://doi.org/10.1111/liv.16148
[2024] BCR, not TCR, repertoire diversity is associated with favorable COVID-19 prognosis
DOI: https://doi.org/10.3389/fimmu.2024.1405013
[2024] Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
DOI: https://doi.org/10.1038/s41525-024-00429-5
[2024] [A Case of Lynch Syndrome with MSH2 Likely Pathogenic Variant Who Developed Rectal Cancer Due to Methylation of MLH1].
[2024] Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome
DOI: https://doi.org/10.1016/j.radcr.2024.08.164
[2024] Production of a heterozygous exon skipping model of common marmosets using gene-editing technology
DOI: https://doi.org/10.1038/s41684-024-01424-0
[2024] Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score
DOI: https://doi.org/10.1007/s00595-024-02894-y
[2024] Microstripe pattern substrate consisting of alternating planar and nanoprotrusive regions improved hiPSC-derived cardiomyocytes’ unidirectional alignment and functional properties
DOI: https://doi.org/10.1088/1748-605x/ad525d
[2024] Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
DOI: https://doi.org/10.1038/s42255-024-01039-2
[2024] Annotation of nuclear lncRNAs based on chromatin interactions
DOI: https://doi.org/10.1371/journal.pone.0295971
[2024] Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome
DOI: https://doi.org/10.1007/s10147-024-02518-y
[2024] Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
DOI: https://doi.org/10.1016/j.mito.2024.101858
[2024] Genetic testing of Japanese patients with serrated polyposis syndrome: A multicentric study.
DOI: https://doi.org/10.1200/jco.2024.42.3_suppl.75
[2024] Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
DOI: https://doi.org/10.1093/braincomms/fcae160
[2023] [Laparoscopic Proximal Gastrectomy with Supra-Pancreatic Dissection First Approach].
[2023] OVCH1 Antisense RNA 1 is differentially expressed between non-frail and frail old adults
DOI: https://doi.org/10.1007/s11357-023-00961-9
[2023] Antibody Deficiency in Patients with Biallelic KARS1 Mutations
DOI: https://doi.org/10.1007/s10875-023-01584-7
[2023] A Case of Lamina Lucida-Type Linear IgA Disease Complicated by Colon Polyposis and Rectal Adenocarcinoma
DOI: https://doi.org/10.1159/000532104
[2023] Genetic Landscape of Masticatory Muscle Tendon–Aponeurosis Hyperplasia
DOI: https://doi.org/10.3390/genes14091718
[2023] PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
DOI: https://doi.org/10.3390/biom13071020
[2023] Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease
DOI: https://doi.org/10.1093/ibd/izad116
[2023] A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers
DOI: https://doi.org/10.1093/jjco/hyad065
[2023] Novel ITPA variants identified by whole genome sequencing and RNA sequencing
DOI: https://doi.org/10.1038/s10038-023-01156-y
[2023] Strategic validation of variants of uncertain significance in ECHS1 genetic testing
DOI: https://doi.org/10.1136/jmg-2022-109027
[2023] Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report
DOI: https://doi.org/10.1016/j.heliyon.2023.e14923
[2023] Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging
DOI: https://doi.org/10.2169/internalmedicine.1612-23
[2023] Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family
DOI: https://doi.org/10.1016/j.ymgmr.2023.100966
[2023] Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report
DOI: https://doi.org/10.1016/j.ymgmr.2023.100963
[2023] Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study
DOI: https://doi.org/10.1097/cej.0000000000000787
[2023] The Coexistence of TRPV6 Variants With Other Pancreatitis‐Associated Genes Affects Pediatric‐Onset Pancreatitis
DOI: https://doi.org/10.1097/mpg.0000000000003700
[2023] Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
DOI: https://doi.org/10.1016/j.ymgmr.2022.100951
[2022] Current State of Genome Medicine in the World
DOI: https://doi.org/10.7143/jhep.49.271
[2022] Focal Segmental Glomerulosclerosis with a Mutation in the Mitochondrially Encoded Nadh Dehydrogenase 5 Gene: A Case Report
DOI: https://doi.org/10.2139/ssrn.4308122
[2022] Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
DOI: https://doi.org/10.1016/j.ymgmr.2022.100912
[2022] Antisense-oligonucleotide-mediated perturbation of long non-coding RNA reveals functional features in stem cells and across cell types
DOI: https://doi.org/10.1016/j.celrep.2022.111893
[2022] [Report of Multidisciplinary Treatment for Sisters with Li-Fraumeni Syndrome].
[2022] Recessive <scp>NUP54</scp> Variants Underlie Early‐Onset Dystonia with Striatal Lesions
DOI: https://doi.org/10.1002/ana.26544
[2022] A Japanese patient with neonatal biotin-responsive basal ganglia disease
DOI: https://doi.org/10.1038/s41439-022-00210-z
[2022] A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis
DOI: https://doi.org/10.1536/ihj.21-859
[2022] Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis
DOI: https://doi.org/10.1093/hmg/ddac180
[2022] A novel germlineSMAD4variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia
DOI: https://doi.org/10.1093/jjco/hyac189
[2022] Impact of measuring heteroplasmy of a pathogenic mitochondrial <scp>DNA</scp> variant at the single‐cell level in individuals with mitochondrial disease
DOI: https://doi.org/10.1002/jimd.12547
[2022] Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents
DOI: https://doi.org/10.1186/s12885-022-09853-1
[2022] Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis
DOI: https://doi.org/10.1159/000524944
[2022] Clinical implementation of RNA sequencing for Mendelian disease diagnostics
DOI: https://doi.org/10.1186/s13073-022-01019-9
[2022] A typical phenotypes due to NDUFV1 mutations
DOI: https://doi.org/10.14534/j-pucr.2021267561
[2022] Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome
DOI: https://doi.org/10.2169/internalmedicine.0773-22
[2022] Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan
DOI: https://doi.org/10.1007/s10147-022-02146-4
[2021] COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study
DOI: https://doi.org/10.3892/mco.2021.2465
[2021] Valine metabolites analysis in ECHS1 deficiency
DOI: https://doi.org/10.1016/j.ymgmr.2021.100809
[2021] Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
DOI: https://doi.org/10.1136/archdischild-2021-321633
[2021] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
DOI: https://doi.org/10.1016/j.mito.2021.12.005
[2021] Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study
DOI: https://doi.org/10.1186/s40478-021-01272-w

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AI 要約（直近 5 年の研究成果）

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研究成果（100 件）

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