Molecular characterization of six Chinese families with m.3460G&gt;A and Leber hereditary optic neuropathy. (Q51577298)

7 April 2018

title

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. (English)

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7 April 2018

author

Yong-Gang Yao

7

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7 April 2018

author name string

Dandan Yu

1

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7 April 2018

Xiaoyun Jia

2

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A-Mei Zhang

3

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7 April 2018

Xiangming Guo

4

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7 April 2018

Ya-Ping Zhang

5

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Qingjiong Zhang

6

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publication date

16 March 2010

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7 April 2018

published in

Neurogenetics

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7 April 2018

volume

11

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issue

3

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page(s)

349-356

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https://scigraph.springernature.com/pub.10.1007/s10048-010-0236-7

exact match

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cites work

Expression of genes from the human active and inactive X chromosomes

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Crossref

https://api.crossref.org/works/10.1007%2FS10048-010-0236-7

High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.

21 January 2018

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12 December 2020

Gene-environment interactions in Leber hereditary optic neuropathy

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12 December 2020

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

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12 December 2020

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

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12 December 2020

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

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12 December 2020

Leber hereditary optic neuropathy

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12 December 2020

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

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12 December 2020

Mitochondrial genome variation in eastern Asia and the peopling of Japan

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12 December 2020

Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences

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12 December 2020

Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.

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12 December 2020

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches

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12 December 2020

High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas

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12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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12 December 2020

Inherited mitochondrial optic neuropathies

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12 December 2020

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.

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12 December 2020

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

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12 December 2020

mtDNA haplogroup distribution in Chinese patients with Leber’s hereditary optic neuropathy and G11778A mutation

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12 December 2020

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy

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12 December 2020

Correcting for purifying selection: an improved human mitochondrial molecular clock

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Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy.

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The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness

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12 December 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

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12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

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12 December 2020

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

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12 December 2020

Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese.

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12 December 2020

Leber's hereditary optic neuropathy: a multifactorial disease.

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12 December 2020

Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations

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12 December 2020

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation

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12 December 2020

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

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12 December 2020

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

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12 December 2020

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

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12 December 2020

Mitochondrial dysfunction as a cause of optic neuropathies

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12 December 2020

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

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12 December 2020

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

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12 December 2020

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

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12 December 2020

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

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12 December 2020

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

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12 December 2020

Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation

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12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

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12 December 2020

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

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12 December 2020

10.1007/S10048-010-0236-7

Identifiers

DOI

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7 April 2018

PubMed ID

20232220

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7 April 2018