Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89-Reference-Cited by-同舟云学术

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Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Published:2013-07 Issue:1 Volume:93 Page:132-140
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Santos-Cortez Regie Lyn P.,Lee Kwanghyuk,Azeem Zahid,Antonellis Patrick J.,Pollock Lana M.,Khan Saadullah,Irfanullah ,Andrade-Elizondo Paula B.,Chiu Ilene,Adams Mark D.,Basit Sulman,Smith Joshua D.,Nickerson Deborah A.,McDermott Brian M.,Ahmad Wasim,Leal Suzanne M.

Funder

National Human Genome Research Institute

National Institutes of Health

Johns Hopkins University

National Institute on Deafness and Other Communication Disorders

Higher Education Commision, Pakistan

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Hearing loss prevalence in the United States;Lin;Arch. Intern. Med.,2011

2. Mental health and quality of life in deaf pupils;Fellinger;Eur. Child Adolesc. Psychiatry,2008

3. Hearing impairment and health-related quality of life: the Blue Mountains Hearing Study;Chia;Ear Hear.,2007

4. Language of early- and later-identified children with hearing loss;Yoshinaga-Itano;Pediatrics,1998

5. Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic;Yaeger;Am. J. Med. Genet. A.,2006

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1. KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin;Journal of Pineal Research;2024-08

2. Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases;Genes;2024-07-19

3. Expansion of the phenotypic spectrum of KARS1‐related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation;American Journal of Medical Genetics Part A;2024-07-09

4. A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants;Human Genetics and Genomics Advances;2024-07

5. Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies;Biomedicines;2024-06-27

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