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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

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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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Main Authors: Stockklausner, Clemens (Author) , Raffel, Simon (Author) , Klermund, Julia (Author) , Bandapalli, Obul Reddy (Author) , Beier, Fabian (Author) , Brümmendorf, Tim Henrik (Author) , Bürger, Friederike (Author) , Sauer, Sven (Author) , Hoffmann, Georg F. (Author) , Lorenz, Holger (Author) , Tagliaferri, Laura (Author) , Nowak, Daniel (Author) , Hofmann, Wolf-Karsten (Author) , Bürgermeister, Rebecca (Author) , Kerber, Carolin (Author) , Rausch, Tobias (Author) , Korbel, Jan Oliver (Author) , Luke, Brian (Author) , Trumpp, Andreas (Author) , Kulozik, Andreas (Author)
Format: Article (Journal)
Language:English
Published: 11 June 2015
In: Aging
Year: 2015, Volume: 7, Issue: 11, Pages: 911-927
ISSN:1945-4589
Online Access:Verlag, lizenzpflichtig, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694062/
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Author Notes:Clemens Stockklausner, Simon Raffel, Julia Klermund, Obul Reddy Bandapalli, Fabian Beier, Tim H. Brümmendorf, Friederike Bürger, Sven W. Sauer, Georg F. Hoffmann, Holger Lorenz, Laura Tagliaferri, Daniel Nowak, Wolf-Karsten Hofmann, Rebecca Buergermeister, Carolin Kerber, Tobias Rausch, Jan O. Korbel, Brian Luke, Andreas Trumpp and Andreas E. Kulozik
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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‐i... by Stockklausner, Clemens (Author) , Bandapalli, Obul Reddy (Author) , Tagliaferri, Laura (Author) , Nowak, Daniel (Author) , Hofmann, Wolf-Karsten (Author) , Bürgermeister, Rebecca (Author) , Kulozik, Andreas (Author) ,


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