PMID 22058290 2012 The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
PMID 19835419 2009 Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
PMID 19391112 2009 Variable expression of Dkc1 mutations in mice.
PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
PMID 17417794 2008 X-linked dyskeratosis congenita in Malaysia.
PMID 25219674 2014 Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
PMID 10364516 1999 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
PMID 12437656 2002 A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
PMID 19879169 2010 Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.
PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.