Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families

scientific article published on August 4, 2010

Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.BBRC.2010.07.135
P953full work available at URLhttps://api.elsevier.com/content/article/PII:S0006291X10014683?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0006291X10014683?httpAccept=text/xml
P698PubMed publication ID20691156
P5875ResearchGate publication ID45535788

P50authorMin-Xin GuanQ88150569
Fuxin ZhaoQ104471226
P2093author name stringLi Yang
Yan Wang
Jian Zhou
Jia Qu
Wanshi Cai
Juanjuan Zhang
Xiangtian Zhou
Jiying Wang
Yi Tong
Yan-Hong Sun
Chengwu Li
Meixia Yuan
Yanzi Meng
P2860cites workIdentification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderQ24538459
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genomeQ24546324
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutationQ24679168
MITOMAP: a human mitochondrial genome database--2004 updateQ24795655
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNAQ27860870
Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathyQ28280974
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathyQ28292821
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathyQ28300484
Sequence and gene organization of mouse mitochondrial DNAQ29618227
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyQ33904852
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutationQ34005399
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutationQ34007681
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutationsQ34386660
LHON and other optic nerve atrophies: the mitochondrial connectionQ35183311
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese familyQ36054550
Inherited mitochondrial optic neuropathiesQ37098009
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutationQ37445425
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutationQ37455749
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutationsQ40323552
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.Q40739962
The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebratesQ42640446
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutationQ46907826
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutationQ48706853
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesQ48836050
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.Q51809765
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathyQ74484996
Mitochondrial encephalomyopathies: gene mutationQ75218221
T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese familyQ81161714
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutationQ81395960
Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese familiesQ81644165
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathyQ81751777
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutationQ82674539
P433issue4
P407language of work or nameEnglishQ1860
P304page(s)647-653
P577publication date2010-08-04
P1433published inBiochemical and Biophysical Research CommunicationsQ864228
P1476titleMitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families
P478volume399

Reverse relations

cites work (P2860)
Q36422135A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
Q46515103Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Q35924271Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation
Q28552632Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity
Q54228041Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
Q84510175Mitochondrial disorders and the eye
Q89286690Mitochondrial genome analysis in penile carcinoma
Q40682178Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees
Q53072695Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
Q92654743Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family
Q31081831Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Search more.