Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (Q24324444)

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3 March 2020

title

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (English)

1 reference

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Asparaginyl-tRNA synthetase 2, mitochondrial

3 March 2020

main subject

1 reference

GOA release 2020-03-11

nonsyndromic deafness

1 reference

1 reference

1 reference

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Thomas B Friedman

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Saima Riazuddin

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Sheikh Riazuddin

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Rashmi Hegde

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Shaheen N Khan

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Mohsin Shahzad

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Tanveer A Qaiser

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Sabiha Nazli

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Arnold Starr

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Xinjian Wang

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Vincent H Huang

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Prasanth Potluri

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Sarah E Mahl

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Antonio Davila

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Saege Hancock

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language of work or name

English

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publication date

25 March 2015

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issue

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page(s)

e1005097

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Creative Commons CC0 License

3 March 2020

start time

25 March 2015

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April 2022 Public Data File from Crossref

copyrighted, dedicated to the public domain by copyright holder

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21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Structural basis of the water-assisted asparagine recognition by asparaginyl-tRNA synthetase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Protein unfolding by the mitochondrial membrane potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mitochondrial Aminoacyl-tRNA Synthetase Single-Nucleotide Polymorphisms That Lead to Defects in Refolding but Not Aminoacylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Lentiviral vector-mediated PAX6 overexpression promotes growth and inhibits apoptosis of human retinoblastoma cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Susceptibility to simvastatin-induced toxicity is partly determined by mitochondrial respiration and phosphorylation state of Akt

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1005097

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

Age and symptoms at natural menopause: a cross-sectional survey of rural women in Sindh Pakistan

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4373692

10.1371/JOURNAL.PGEN.1005097

29 November 2018

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

25807530

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807530%20AND%20SRC:MED&resulttype=core&format=json