Article
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.
Life science alliance - 1 Jan 2022
Graniel Jacqueline V, Bisht Kamlesh, Friedman Ann, White James, Perkey Eric, Vanderbeck Ashley, Moroz Alina, Carrington Léolène J, Brandstadter Joshua D, Allen Frederick, Shami Adrienne Niederriter, Thomas Peedikayil, Crayton Aniela, Manzor Mariel, Mychalowych Anna, Chase Jennifer, Hammoud Saher S, Keegan Catherine E, Maillard Ivan, Nandakumar Jayakrishnan
Abstract excerpt
Telomerase extends chromosome ends in somatic and germline stem cells to ensure continued proliferation. Mutations in genes critical for telomerase function result in telomeropathies such as dyskeratosis congenita, frequently resulting in spontaneous bone marrow failure. A dyskeratosis congenita mutation in TPP1 (K170∆) that specifically compromises telomerase recruitment to telomeres is a valuable tool to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.