(Q35011198)

5 August 2017

title

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype (English)

1 reference

5 August 2017

1 reference

1

Eline van Meel

0 references

author name string

Eline van Meel

1

1 reference

5 August 2017

Daniel J Wegner

2

1 reference

5 August 2017

Paul Cliften

3

1 reference

5 August 2017

Marcia C Willing

4

1 reference

5 August 2017

Frances V White

5

1 reference

5 August 2017

Stuart Kornfeld

6

1 reference

5 August 2017

F Sessions Cole

7

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5 August 2017

publication date

8 October 2013

1 reference

5 August 2017

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5 August 2017

volume

14

1 reference

5 August 2017

page(s)

106

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-14-106

5 August 2017

exact match

0 references

cites work

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Comparison of long-term outcome between anti-Jo1- and anti-PL7/PL12 positive patients with antisynthetase syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Annual summary of vital statistics: 2009.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Interstitial lung disease outcomes by high-resolution computed tomography (HRCT) in Anti-Jo1 antibody-positive polymyositis patients: a single centre study and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Two non-redundant fragments in the N-terminal peptide of human cytosolic methionyl-tRNA synthetase were indispensable for the multi-synthetase complex incorporation and enzyme activity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

The role of aminoacyl-tRNA synthetases in genetic diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Crystal structure of Escherichia coli methionyl-tRNA synthetase highlights species-specific features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852179

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-106

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-106

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-14-106

A complex from cultured Chinese hamster ovary cells containing nine aminoacyl-tRNA synthetases. Thermolabile leucyl-tRNA synthetase from the tsH1 mutant cell line is an integral component of this complex

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24103465

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Antisynthetase syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24103465

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-14-106

1 reference

Dimensions Publication ID

5 August 2017

1006931418

0 references

Fatcat ID

release_6xjtr74cpzbirg3yx2xxcwlxo4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6xjtr74cpzbirg3yx2xxcwlxo4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3852179

1 reference

5 August 2017

1 reference