Article
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.
Human molecular genetics - 15 May 2017
Carrillo Jaime, Calvete Oriol, Pintado-Berninches Laura, Manguan-García Cristina, Sevilla Navarro Julian, Arias-Salgado Elena G, Sastre Leandro, Guenechea Guillermo, López Granados Eduardo, de Villartay Jean-Pierre, Revy Patrick, Benitez Javier, Perona Rosario
Abstract excerpt
NHEJ1-patients develop severe progressive lymphocytopenia and premature aging of hematopoietic stem cells (HSCs) at a young age. Here we show a patient with a homozygous-NHEJ1 mutation identified by whole exome-sequencing that developed severe pancytopenia and bone marrow aplasia correlating with the presence of short telomeres. The mutation resulted in a truncated protein. In an attempt to identify the mechanism...
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