Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation (Q34007681)

30 July 2017

title

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

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hereditary optic neuropathy

30 July 2017

main subject

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Jia Qu

1

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30 July 2017

Xiangtian Zhou

2

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30 July 2017

Juanjuan Zhang

3

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30 July 2017

Fuxin Zhao

4

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30 July 2017

Yan-Hong Sun

5

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30 July 2017

Yi Tong

6

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30 July 2017

Qi-Ping Wei

7

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30 July 2017

Wansi Cai

8

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30 July 2017

Li Yang

9

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30 July 2017

Constance E West

10

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30 July 2017

Min-Xin Guan

11

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30 July 2017

publication date

22 January 2009

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30 July 2017

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30 July 2017

volume

116

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30 July 2017

issue

3

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30 July 2017

page(s)

558-564.e3

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

30 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family

5 July 2018

1 reference

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MITOMAP: a human mitochondrial genome database--2004 update

5 July 2018

1 reference

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Mitochondrial genome variation in eastern Asia and the peopling of Japan

5 July 2018

1 reference

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LHON and other optic nerve atrophies: the mitochondrial connection

5 July 2018

1 reference

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Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Pattern of organization of human mitochondrial pseudogenes in the nuclear genome

5 July 2018

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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

5 July 2018

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Leber hereditary optic neuropathy

5 July 2018

1 reference

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Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

5 July 2018

1 reference

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Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Sequence and gene organization of mouse mitochondrial DNA

5 July 2018

1 reference

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Sequence and organization of the human mitochondrial genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

The complete nucleotide sequence of the Xenopus laevis mitochondrial genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates

5 July 2018

1 reference

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A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

5 July 2018

1 reference

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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2907161

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

29 October 2018

1 reference

12 December 2020

Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

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12 December 2020

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

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12 December 2020

Mitochondrial encephalomyopathies: gene mutation

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12 December 2020

Mitochondria and Leber's hereditary optic neuropathy

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12 December 2020

10.1016/J.OPHTHA.2008.10.022

Identifiers

DOI

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30 July 2017

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30 July 2017

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