(Q37156232)

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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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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

mitochondrial DNA

0 references

Leber hereditary optic neuropathy

1 reference

based on heuristic

inferred from title

Hans-Jürgen Bandelt

8

object named as

Hans-Jürgen Bandelt

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Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Yanli Ji

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

A-Mei Zhang

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Xiaoyun Jia

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Ya-Ping Zhang

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Xueshan Xiao

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Shiqiang Li

6

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Xiangming Guo

7

1 reference

Europe PubMed Central

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18 August 2017

Qingjiong Zhang

9

1 reference

Europe PubMed Central

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18 August 2017

Yong-Gang Yao

10

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18 August 2017

language of work or name

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publication date

20 November 2008

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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18 August 2017

83

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

760-768

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Pathogenic mitochondrial DNA mutations are common in the general population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Phylogeographic analysis of mitochondrial DNA in northern Asian populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Leber's hereditary optic neuropathy: a multifactorial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Mitochondrial dysfunction as a cause of optic neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

The epidemiology of Leber hereditary optic neuropathy in the North East of England

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Leber hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Phylogeographic differentiation of mitochondrial DNA in Han Chinese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Tracing European founder lineages in the Near Eastern mtDNA pool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

14 September 2017

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

27 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

27 June 2018

Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

27 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

Nomenclature for the description of human sequence variations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668067

3 September 2018

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Emerging Limbs and Twigs of the East Asian mtDNA Tree

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Women with mitochondrial haplogroup N9a are protected against metabolic syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19026397

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.11.002

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

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