| scholarly article | Q13442814 |
| P50 | author | Taosheng Huang | Q74605870 |
| P2093 | author name string | Min Liang | |
| Min-Xin Guan | |||
| Xiaoling Liu | |||
| Chaofan Zhang | |||
| Yidong Bai | |||
| Pingping Jiang | |||
| Qun Fu | |||
| Yan-Hong Sun | |||
| Xiaoxu Zhao | |||
| Yanchun Ji | |||
| Limei Cui | |||
| Qiufen He | |||
| P2860 | cites work | Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder | Q24538459 |
| Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome | Q24546324 | ||
| Mitochondrial genome variation in eastern Asia and the peopling of Japan | Q24562348 | ||
| mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences | Q25257527 | ||
| Effect of mtDNA point mutations on cellular bioenergetics | Q26822522 | ||
| Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA | Q27860870 | ||
| A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation | Q28082057 | ||
| Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. | Q43623412 | ||
| Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium | Q44226125 | ||
| Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families | Q44452195 | ||
| Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. | Q44452930 | ||
| Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy | Q45406257 | ||
| Evaluation of chemiluminescence and flow cytometry as tools in assessing production of hydrogen peroxide and superoxide anion in human spermatozoa. | Q46423888 | ||
| The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation | Q46907826 | ||
| The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation | Q48706853 | ||
| Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. | Q51244085 | ||
| The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. | Q51809765 | ||
| Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. | Q53072695 | ||
| Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C. | Q54228041 | ||
| Purification of mitochondrial DNA from human cell cultures and placenta | Q71889939 | ||
| The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation | Q72205769 | ||
| Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy | Q74484996 | ||
| T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family | Q81161714 | ||
| The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation | Q84529804 | ||
| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
| Blue native PAGE | Q28296330 | ||
| Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy | Q28300484 | ||
| Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation | Q29614475 | ||
| Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation | Q32069406 | ||
| A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. | Q33843127 | ||
| Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees | Q33965082 | ||
| Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation | Q34005399 | ||
| Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation | Q34007681 | ||
| Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations | Q34386660 | ||
| Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families | Q34735172 | ||
| Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders | Q34958336 | ||
| LHON: Mitochondrial Mutations and More | Q35084727 | ||
| Release of infectious Epstein-Barr virus by transformed marmoset leukocytes | Q35093948 | ||
| Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. | Q35238441 | ||
| Bcl-xL regulates mitochondrial energetics by stabilizing the inner membrane potential | Q35406465 | ||
| An enhanced MITOMAP with a global mtDNA mutational phylogeny | Q35608504 | ||
| Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation | Q35643475 | ||
| Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation | Q35924271 | ||
| Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families | Q36089268 | ||
| Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways | Q36485172 | ||
| A Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function. | Q37073167 | ||
| Inherited mitochondrial optic neuropathies | Q37098009 | ||
| Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation | Q37445425 | ||
| Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency | Q38249965 | ||
| Oxidative stress in inherited mitochondrial diseases | Q38527423 | ||
| The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation | Q38813517 | ||
| Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy | Q39768179 | ||
| Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels | Q39910474 | ||
| Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. | Q39937507 | ||
| An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria | Q40142379 | ||
| Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. | Q40273572 | ||
| Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations | Q40323552 | ||
| Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. | Q40519925 | ||
| Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells | Q40749783 | ||
| Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation | Q40856368 | ||
| Leber's hereditary optic neuropathy. New genetic considerations | Q40905018 | ||
| Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy. | Q41086005 | ||
| Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy | Q41197263 | ||
| Mitochondria-mediated transformation of human rho(0) cells | Q41244287 | ||
| Assessing bioenergetic function in response to oxidative stress by metabolic profiling | Q41816998 | ||
| Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. | Q42590475 | ||
| Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families | Q42944161 | ||
| P433 | issue | 16 | |
| P921 | main subject | mitochondrial DNA | Q27075 |
| P304 | page(s) | 3613-3625 | |
| P577 | publication date | 2016-07-17 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation | |
| P478 | volume | 25 |
| Q90429791 | A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis |
| Q90194755 | Creation of Cybrid Cultures Containing mtDNA Mutations m.12315G>A and m.1555G>A, Associated with Atherosclerosis |
| Q51160954 | Leber hereditary optic neuropathy due to a new ND1 mutation. |
| Q91974698 | Leber's Hereditary Optic Neuropathy-Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family |
| Q49614877 | Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel |
| Q55643143 | Next-generation sequencing profiling of mitochondrial genomes in gout. |
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