about
Treatment for mitochondrial disordersTreatment for mitochondrial disordersA functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studiesMutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy3.4 kb mitochondrial genome deletion serves as a surrogate predictive biomarker for prostate cancer in histopathologically benign biopsy coresMitochondriaMitochondrial defects in cancerSomatic mutations in mitochondria: the chicken or the egg?Mitochondrial geneticsMitochondrial disorders: challenges in diagnosis & treatmentReduced adolescent-age spatial learning ability associated with elevated juvenile-age superoxide levels in complex I mouse mutantsChip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.Infant peripheral blood repetitive element hypomethylation associated with antiretroviral therapy in uteroToward a mtDNA locus-specific mutation database using the LOVD platformThe role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Targeting of mutant hogg1 in mammalian mitochondria and nucleus: effect on cellular survival upon oxidative stress.MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.Minisequencing mitochondrial DNA pathogenic mutations.MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.Generation and bioenergetic analysis of cybrids containing mitochondrial DNA from mouse skeletal muscle during aging.Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.Re-engineering the mitochondrial genomes in mammalian cellsIdentification of sequence polymorphism in the D-Loop region of mitochondrial DNA as a risk factor for hepatocellular carcinoma with distinct etiology.No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy lossSingle nucleotide polymorphisms in the mitochondrial displacement loop and outcome of esophageal squamous cell carcinomaMitochondrial DNA alterations in the progression of gastric carcinomas: unexplored issues and future research needs.Mitochondrial DNA haplogroups and mutations in children with acquired central demyelinationAlcohol and mitochondria: a dysfunctional relationshipElectrophile and oxidant damage of mitochondrial DNA leading to rapid evolution of homoplasmic mutations.Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human diseaseAssociations of mitochondrial haplogroups b4 and e with biliary atresia and differential susceptibility to hydrophobic bile Acid.Mitochondrial threshold effects.Stable heteroplasmy at the single-cell level is facilitated by intercellular exchange of mtDNA.Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations.Patterns of natural selection acting on the mitochondrial genome of a locally adapted fish species.PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variationsMitochondrial tRNA 3' end metabolism and human disease.Transcriptional control of cardiac fuel metabolism and mitochondrial functionSingle nucleotide polymorphisms in the mitochondrial displacement loop and age-at-onset of esophageal squamous cell carcinoma.
P2860
Q24200432-5A2C6751-9498-43D8-AC96-62F092BE5CF3Q24244543-6DA752CA-EFDD-49A8-8E73-0F5698FD235DQ24301286-F432229B-AD44-45D8-BDD2-CD4E5260F961Q24302105-3ED14A76-6635-4002-894C-BCCB7D004960Q24594248-20C6257B-3A88-4C6B-9F14-2DA7DCC17869Q24671804-69D74D0A-FB05-4DE2-97F7-C1E76577063BQ24799964-EAC2E3D5-8967-4A77-9C59-676F847C2A9AQ24812539-33869036-8112-4282-9BA8-1169FA64381CQ26849285-298F3CE0-4D04-4F05-A7B0-B8EF47ED05FEQ27000484-40873EDD-BCDF-4B69-98C5-8AEDD7541F91Q27309281-17BC8503-B288-4F0F-AB72-52E0A8D40C95Q27990522-0A5D09DC-F855-45AF-8B42-898A2A8CA29EQ28392255-C742731D-8CF1-40FE-9338-43E2A117E253Q28649774-16BF869B-8880-41E6-8C0F-22F310342D9BQ30567357-0DA9FE69-A586-4676-B50C-AF048302E01FQ33259243-158B0E1D-E4DF-4F5A-82F3-17A3821221BFQ33312080-3B98DA73-7909-4188-ADE3-7A68F729D05CQ33325729-EE964B90-48F1-439D-A245-C7CA691DA8ECQ33503932-D995B010-480B-4F79-A339-16B3DD518CD6Q33760218-00C60C8F-2CDF-4A8A-9F58-B3ADA613C1BDQ34107490-1EA751FE-78C8-4131-AA28-3BB198F35221Q34156841-9039D883-D7A8-468E-8B0B-55BC6A49236AQ34174441-2E0A7F84-7CCA-4F38-9785-5AD8ED7ECD14Q34370259-A5283418-487E-4379-9912-8919346D12D6Q34397897-554CCF0A-110E-435F-A5CF-908284209BC7Q34552088-C94EF7FC-4EC7-4A3A-A39F-E71B2C114B57Q34647096-AA97A8C9-6142-45F0-A749-CBFF8286D658Q34676867-B6C704A0-467B-4D0F-BBD4-AE394E60AE5FQ34762213-46D8676D-54E3-4441-BDF8-B3250C9E1B1EQ34852419-08E4007B-904F-43B0-9407-11E131F5F05FQ34961939-142124F4-FDBC-4DF7-B29A-384AF73E6517Q35017647-DA814BE0-1F5F-4A9A-BB0C-ACAF521CA853Q35131099-037B1496-CB67-44E1-B394-E3D42AF556A6Q35552917-5DDAC7CA-CEC6-47DE-8BDD-B26FDE50940CQ35565985-A518D2E5-6712-4C03-A190-3584F03E3609Q35814781-0CEAFB84-2FCE-4267-8733-040321B76948Q35914194-91D52AAF-4D2A-49F5-A6EE-70B91AAE5717Q35914830-BB9B0708-4D88-483E-A337-C0044FEC4879Q35923008-E24F7386-6AA7-4722-85E2-3DF0B69C0842Q35995588-4F56422C-F51A-4F00-8391-CECE933AB9D1
P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mitochondrial DNA mutations in human disease.
@ast
Mitochondrial DNA mutations in human disease.
@en
Mitochondrial DNA mutations in human disease.
@nl
type
label
Mitochondrial DNA mutations in human disease.
@ast
Mitochondrial DNA mutations in human disease.
@en
Mitochondrial DNA mutations in human disease.
@nl
prefLabel
Mitochondrial DNA mutations in human disease.
@ast
Mitochondrial DNA mutations in human disease.
@en
Mitochondrial DNA mutations in human disease.
@nl
P2860
P356
P1476
Mitochondrial DNA mutations in human disease.
@en
P2093
P2860
P356
10.1002/AJMG.1392
P577
2001-01-01T00:00:00Z