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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.
Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brümmendorf TH, Bürger F, Sauer SW, Hoffmann GF, Lorenz H, Tagliaferri L, Nowak D, Hofmann WK, Buergermeister R, Kerber C, Rausch T, Korbel JO, Luke B, Trumpp A, Kulozik AE. Stockklausner C, et al. Among authors: lorenz h. Aging (Albany NY). 2015 Nov;7(11):911-27. doi: 10.18632/aging.100835. Aging (Albany NY). 2015. PMID: 26546739 Free PMC article.
The centriolar satellite protein SSX2IP promotes centrosome maturation.
Bärenz F, Inoue D, Yokoyama H, Tegha-Dunghu J, Freiss S, Draeger S, Mayilo D, Cado I, Merker S, Klinger M, Hoeckendorf B, Pilz S, Hupfeld K, Steinbeisser H, Lorenz H, Ruppert T, Wittbrodt J, Gruss OJ. Bärenz F, et al. Among authors: lorenz h. J Cell Biol. 2013 Jul 8;202(1):81-95. doi: 10.1083/jcb.201302122. Epub 2013 Jul 1. J Cell Biol. 2013. PMID: 23816619 Free PMC article.
736 results