ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

Short telomere syndromes manifest as familial idiopathic pulmonary fibrosis; they are the most common premature aging disorders. We used genome-wide linkage to identify heterozygous loss of function of ZCCHC8, a zinc-knuckle containing protein, as a cause of autosomal dominant pulmonary fibrosis. ZC...

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Detalhes bibliográficos
Publicado no:Genes Dev
Main Authors: Gable, Dustin L., Gaysinskaya, Valeriya, Atik, Christine C., Talbot, C. Conover, Kang, Byunghak, Stanley, Susan E., Pugh, Elizabeth W., Amat-Codina, Nuria, Schenk, Kara M., Arcasoy, Murat O., Brayton, Cory, Florea, Liliana, Armanios, Mary
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6771387/
https://ncbi.nlm.nih.gov/pubmed/31488579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.326785.119
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