Kei Murayama 研究室

主宰者：Kei Murayama

順天堂大学

AI 要約（直近 5 年の研究成果）

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研究成果（100 件）

[2026] Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier
DOI: https://doi.org/10.1016/j.xhgg.2026.100632
[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] 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] The genotypic and phenotypic landscape of PDHA1 -related pyruvate dehydrogenase complex deficiency
DOI: https://doi.org/10.1093/brain/awaf430
[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] Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly
DOI: https://doi.org/10.1038/s41439-025-00327-x
[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] #3292 Mitochondrial oxidative phosphorylation in human proximal tubular epithelial cells is impaired by iron deficiency—Additional Report
DOI: https://doi.org/10.1093/ndt/gfaf116.0136
[2025] A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection
DOI: https://doi.org/10.7759/cureus.93552

続きを表示（残り 90 件）

[2025] Adult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report
DOI: https://doi.org/10.7759/cureus.93228
[2025] Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy
DOI: https://doi.org/10.1186/s13023-025-03848-4
[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] Mitochondria‐Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human‐Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model
DOI: https://doi.org/10.1096/fj.202401856rrr
[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] Vitamin <scp>B6</scp> Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin <scp>B6</scp> Metabolism by Supplementation and Enzyme Replacement Therapy
DOI: https://doi.org/10.1002/jimd.70036
[2025] Pleiotropic effects of MORC2 derive from its epigenetic signature
DOI: https://doi.org/10.1093/brain/awaf159
[2025] Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations
DOI: https://doi.org/10.1038/s41390-025-04045-6
[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] Atf3 controls transitioning in female mitochondrial cardiomyopathy as identified by spatial and single-cell transcriptomics
DOI: https://doi.org/10.1126/sciadv.adq1575
[2025] Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation
DOI: https://doi.org/10.1016/j.ymgmr.2025.101200
[2025] A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
DOI: https://doi.org/10.1016/j.ymgmr.2025.101198
[2025] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
DOI: https://doi.org/10.1002/mgg3.70048
[2025] P013: Advances in multi-omics diagnostics studies of mitochondrial diseases in Japan
DOI: https://doi.org/10.1016/j.gimo.2025.102857
[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] Successful pregnancy in a patient with OTCD using advanced technologies and liver transplant
DOI: https://doi.org/10.1111/ped.70006
[2025] A rare mitochondrial disease with infantile severe metabolic disturbances that improved spontaneously
DOI: https://doi.org/10.1111/ped.70052
[2025] Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome
DOI: https://doi.org/10.1620/tjem.2025.j137
[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 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] National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study
DOI: https://doi.org/10.1016/j.braindev.2025.104387
[2024] Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
DOI: https://doi.org/10.1093/braincomms/fcae160
[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] Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses
DOI: https://doi.org/10.1016/j.ymgme.2023.107986
[2024] NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model
DOI: https://doi.org/10.3390/biom15010038
[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] 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] Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
DOI: https://doi.org/10.1038/s41525-024-00429-5
[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] Efficacy of a mitochondrial drug cocktail in preventing acute encephalopathy with biphasic seizures and late reduced diffusion
DOI: https://doi.org/10.1016/j.jns.2024.123245
[2024] Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome
DOI: https://doi.org/10.1016/j.bdcasr.2024.100040
[2024] X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples
DOI: https://doi.org/10.1055/s-0044-1788333
[2024] Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study
DOI: https://doi.org/10.1016/j.jns.2024.122867
[2024] A hidden cause of middle-aged onset heart failure with preserved ejection fraction: a GTPBP3 variant
DOI: https://doi.org/10.1093/eurheartj/ehae309
[2024] Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
DOI: https://doi.org/10.1016/j.gim.2024.101165
[2024] Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease
DOI: https://doi.org/10.1038/s42255-024-01039-2
[2024] #1546 Mitochondrial oxidative phosphorylation in human proximal tubular epithelial cells is impaired by iron deficiency
DOI: https://doi.org/10.1093/ndt/gfae069.1238
[2024] WCN24-865 MEASUREMENT OF MITOCHONDRIAL RESPIRATORY CHAIN ACTIVITY USING CULTURED TUBULAR CELLS FROM URINE AS A NEW DIAGNOSTIC METHOD FOR MITOCHONDRIAL NEPHROPATHY
DOI: https://doi.org/10.1016/j.ekir.2024.02.692
[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
[2023] Living donor liver transplantation for myocerebrohepatopathy spectrum due to <scp>POLG</scp> mutations
DOI: https://doi.org/10.1111/petr.14659
[2023] Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
DOI: https://doi.org/10.1038/s41598-023-49161-7
[2023] Genetic landscape of pediatric acute liver failure of indeterminate origin
DOI: https://doi.org/10.1097/hep.0000000000000684
[2023] Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
DOI: https://doi.org/10.1002/jimd.12673
[2023] Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites
DOI: https://doi.org/10.1016/j.ymgme.2023.107703
[2023] 258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands
DOI: https://doi.org/10.1016/j.nmd.2023.06.002
[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] Multimodal MR imaging in acute exacerbation of methylmalonic acidemia
DOI: https://doi.org/10.1016/j.radcr.2022.12.037
[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] 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] Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2
DOI: https://doi.org/10.3389/fnins.2023.1085082
[2022] High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan
DOI: https://doi.org/10.1007/s10157-022-02295-w
[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] A Case of Adult Hypophosphatasia with Non-specific Symptoms
DOI: https://doi.org/10.14442/generalist.45.126
[2022] Recessive <scp>NUP54</scp> Variants Underlie Early‐Onset Dystonia with Striatal Lesions
DOI: https://doi.org/10.1002/ana.26544
[2022] Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report
DOI: https://doi.org/10.1016/j.pediatrneurol.2022.10.012
[2022] Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
DOI: https://doi.org/10.1016/j.gim.2022.09.015
[2022] A Japanese patient with neonatal biotin-responsive basal ganglia disease
DOI: https://doi.org/10.1038/s41439-022-00210-z
[2022] Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
DOI: https://doi.org/10.1212/nxg.0000000000200030
[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] Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
DOI: https://doi.org/10.1038/s41439-022-00211-y
[2022] Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
DOI: https://doi.org/10.1016/j.ymgmr.2022.100912
[2022] Loss of mitochondrial fatty acid <scp>β‐oxidation</scp> protein short‐chain <scp>Enoyl‐CoA</scp> hydratase disrupts oxidative phosphorylation protein complex stability and function
DOI: https://doi.org/10.1111/febs.16595
[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] A child with mitochondrial DNA deletion presenting diabetes mellitus as an initial symptom
DOI: https://doi.org/10.1016/j.radcr.2022.05.061
[2022] In Reply to “The Spectrum of Renal Abnormalities in Mitochondrial Disorders Is Broad”
DOI: https://doi.org/10.1016/j.ekir.2022.05.015
[2022] Clinical implementation of RNA sequencing for Mendelian disease diagnostics
DOI: https://doi.org/10.1186/s13073-022-01019-9
[2022] Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
DOI: https://doi.org/10.1007/s00415-022-11026-w
[2022] A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
DOI: https://doi.org/10.1186/s13023-022-02230-y
[2022] Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan
DOI: https://doi.org/10.1002/jimd.12483
[2022] Clinicopathologic Features of Mitochondrial Nephropathy
DOI: https://doi.org/10.1016/j.ekir.2021.12.028
[2022] Severe metabolic acidosis with cardiac involvement in DNM1L‐related mitochondrial encephalopathy
DOI: https://doi.org/10.1111/ped.14879
[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
[2021] Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient
DOI: https://doi.org/10.3389/fgene.2021.685035
[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] Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan
DOI: https://doi.org/10.1186/s13023-021-02119-2
[2021] Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases
DOI: https://doi.org/10.2169/internalmedicine.8629-21
[2021] BCS1L mutations produce Fanconi syndrome with developmental disability
DOI: https://doi.org/10.1038/s10038-021-00984-0
[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] Macroscopic Characteristics of the Native Liver in Children With MPV17‐Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?
DOI: https://doi.org/10.1002/lt.26296
[2021] Food Preferences of Patients with Citrin Deficiency
DOI: https://doi.org/10.3390/nu13093123
[2021] Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy
DOI: https://doi.org/10.1055/s-0041-1732446
[2021] Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
DOI: https://doi.org/10.1016/j.ymgmr.2021.100800
[2021] Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report
DOI: https://doi.org/10.1016/j.braindev.2021.08.005
[2021] Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
DOI: https://doi.org/10.1002/humu.24274
[2021] Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
DOI: https://doi.org/10.1016/j.ijcard.2021.06.042
[2021] Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children
DOI: https://doi.org/10.1111/petr.14091

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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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