(Q34667750)

3 August 2017

MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations (English)

1 reference

3 August 2017

0 references

1 reference

3

1 reference

3 August 2017

Shamnamole K

1

1 reference

3 August 2017

Saakshi Jalali

series ordinal

2

1 reference

3 August 2017

Anshu Bhardwaj

series ordinal

4

1 reference

3 August 2017

language of work or name

English

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publication date

9 April 2013

1 reference

3 August 2017

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3 August 2017

8

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3 August 2017

4

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3 August 2017

e60066

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Creative Commons Attribution 4.0 International

3 August 2017

start time

9 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

LOVD v.2.0: the next generation in gene variant databases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

mtDNA data mining in GenBank needs surveying

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

MitoVariome: a variome database of human mitochondrial DNA.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial cytopathies: clinical, morphological and genetic characteristics.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

The diversity present in 5140 human mitochondrial genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Distilling artificial recombinants from large sets of complete mtDNA genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Pathogenic mitochondrial DNA mutations are common in the general population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Pseudomitochondrial genome haunts disease studies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

The dawn of human matrilineal diversity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Genetic factors related to mitochondrial function and risk of diabetes mellitus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Diagnostic challenges of mitochondrial DNA disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

An enhanced MITOMAP with a global mtDNA mutational phylogeny

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial DNA mutations in human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

The fingerprint of phantom mutations in mitochondrial DNA data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial pseudogenes: evolution's misplaced witnesses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial diseases in man and mouse

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial DNA mutations and pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Neurological presentations of mitochondrial diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial DNA sequence variation in human evolution and disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Impairment in mitochondrial cytochrome oxidase gene expression in Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Mitochondrial complex I, II/III, and IV activities in familial and sporadic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Phantom mutation hotspots in human mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Curating gene variant databases (LSDBs): toward a universal standard

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3621970

How Mitochondria Redefine the Code

26 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

Specificity of mtDNA-directed PCR—influence of NUclear MTDNA insertion (NUMT) contamination in routine samples and techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060066

10.1371/JOURNAL.PONE.0060066

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference