Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation

scientific article

Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.OPHTHA.2008.10.022
P932PMC publication ID2907161
P698PubMed publication ID19167085
P5875ResearchGate publication ID23937399

P2093author name stringLi Yang
Min-Xin Guan
Jia Qu
Juanjuan Zhang
Xiangtian Zhou
Yi Tong
Fuxin Zhao
Constance E West
Yan-Hong Sun
Qi-Ping Wei
Wansi Cai
P2860cites workAutomating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genomeQ24546324
Mitochondrial genome variation in eastern Asia and the peopling of JapanQ24562348
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundQ24678122
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
Sequence and organization of the human mitochondrial genomeQ27860659
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathyQ28292821
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathyQ28300484
Pattern of organization of human mitochondrial pseudogenes in the nuclear genomeQ28768380
Sequence and gene organization of mouse mitochondrial DNAQ29618227
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyQ33904852
Leber hereditary optic neuropathyQ34118893
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
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
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutationQ35643475
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese familyQ36054550
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.Q40739962
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerveQ41678616
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.Q42590475
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 complete nucleotide sequence of the Xenopus laevis mitochondrial genomeQ48376185
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
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.Q50474850
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.Q51809765
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.Q52586132
Mitochondria and Leber's hereditary optic neuropathyQ68799656
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathyQ74484996
Mitochondrial encephalomyopathies: gene mutationQ75218221
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutationQ81395960
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathyQ81751777
P433issue3
P921main subjecthereditary optic neuropathyQ55789244
P304page(s)558-564.e3
P577publication date2009-01-22
P1433published inOphthalmologyQ7098109
P1476titleExtremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation
P478volume116

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cites work (P2860)
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
Q34007647Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family
Q34735172Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families
Q34000675Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
Q37445425Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation
Q36089268Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families
Q33679205Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation
Q46249016Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.
Q42944161Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families
Q45874419Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.
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
Q42930492Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation
Q47161404Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report
Q92654743Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family
Q34007628Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree
Q90257792Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency
Q36183037The role of mitochondrial tRNA mutations in lung cancer
Q35406187The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
Q43741808Variations in mitochondrial tRNA(Thr) gene may not be associated with coronary heart disease
Q34005399Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
Q33729752Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation

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