A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

The TERT gene encodes for the reverse transcriptase activity of the telomerase complex and mutations in TERT can lead to dysfunctional telomerase activity resulting in diseases such as dyskeratosis congenita (DKC). Here, we describe a novel TERT mutation at position T1129P leading to DKC with progre...

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Detalles Bibliográficos
Autores principales: Stockklausner, Clemens, Raffel, Simon, Klermund, Julia, Bandapalli, Obul Reddy, Beier, Fabian, Brümmendorf, Tim H., Bürger, Friederike, Sauer, Sven W., Hoffmann, Georg F., Lorenz, Holger, Tagliaferri, Laura, Nowak, Daniel, Hofmann, Wolf-Karsten, Buergermeister, Rebecca, Kerber, Carolin, Rausch, Tobias, Korbel, Jan O., Luke, Brian, Trumpp, Andreas, Kulozik, Andreas E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2015
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694062/
https://www.ncbi.nlm.nih.gov/pubmed/26546739

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