Condition: Dyskeratosis Congenita


rs199473674 in CTC1 gene and Dyskeratosis Congenita PMID 22532422 2012 CTC1 Mutations in a patient with dyskeratosis congenita.

PMID 22267198 2012 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

PMID 23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.

PMID 22899577 2013 Mutations in the telomere capping complex in bone marrow failure and related syndromes.

PMID 22387016 2012 Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

PMID 24115768 2013 Molecular basis of telomere syndrome caused by CTC1 mutations.

PMID 29481669 2018 Pathogenic CTC1 mutations cause global genome instabilities under replication stress.

rs121912304 in DKC1 gene and Dyskeratosis Congenita PMID 11491307 2001 One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PMID 14648217 2003 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 23660516 2013 Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

PMID 25992652 2015 Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PMID 22058290 2012 The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

rs1449687529 in RTEL1-TNFRSF6B;RTEL1 gene and Dyskeratosis Congenita PMID 25848748 2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 24582487 2014 RTEL1: functions of a disease-associated helicase.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs201540674 in RTEL1-TNFRSF6B;TNFRSF6B;RTEL1 gene and Dyskeratosis Congenita PMID 26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

rs1555899111 in RTEL1;RTEL1-TNFRSF6B gene and Dyskeratosis Congenita PMID 24582487 2014 RTEL1: functions of a disease-associated helicase.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

PMID 25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.

rs121912288 in SNORA56;DKC1 gene and Dyskeratosis Congenita PMID 25992652 2015 Here we describe the production of iPS cells from DC patients with DKC1 mutations Q31E, A353V and ΔL37.

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 10364516 1999 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.