Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita

Dyskeratosis congenita (DC) is a pediatric bone marrow failure syndrome caused by germline mutations in telomere biology genes. Mutations in DKC1 (the most commonly mutated gene in DC), the 3′ region of TERC, and poly(A)-specific ribonuclease (PARN) cause reduced levels of the telomerase RNA compone...

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Udgivet i:Blood Adv
Main Authors: Shukla, Siddharth, Jeong, Ho-Chang, Sturgeon, Christopher M., Parker, Roy, Batista, Luis Francisco Zirnberger
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2020
Fag:
Hematopoiesis and Stem Cells
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322949/
https://ncbi.nlm.nih.gov/pubmed/32559291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2020001848
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