Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease (Q41929201)

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scientific article published on 20 October 2014

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

Language	Label	Description	Also known as
English	Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease	scientific article published on 20 October 2014	Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 October 2017

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease (English)

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14 October 2017

congenital disorder

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visual impairment

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based on heuristic

inferred from title

Hugh J. McMillan

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Hugh J McMillan

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Jeremy Schwartzentruber

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Jeremy Schwartzentruber

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object named as

Kym M Boycott

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14 October 2017

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Jacek Majewski

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14 October 2017

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FORGE Canada Consortium

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14 October 2017

Chandree L Beaulieu

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Chandree L Beaulieu

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14 October 2017

Dennis E Bulman

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Dennis E Bulman

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14 October 2017

author name string

Peter Humphreys

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14 October 2017

Amanda Smith

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14 October 2017

Pranesh Chakraborty

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14 October 2017

Michael T Geraghty

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14 October 2017

publication date

20 October 2014

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14 October 2017

Journal of Child Neurology

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14 October 2017

30

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14 October 2017

8

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14 October 2017

1037-1043

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14 October 2017

The role of aminoacyl-tRNA synthetases in genetic diseases

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

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Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

1 reference

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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

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Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

1 reference

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21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

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A method and server for predicting damaging missense mutations

1 reference

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

1 reference

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Genetic mapping and exome sequencing identify variants associated with five novel diseases

1 reference

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

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21 January 2018

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

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21 January 2018

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

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Identifiers

10.1177/0883073814553272

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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