| 1 | Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. (21415081) | Parry E.M.... Armanios M. | 2011 | DKC1 |
| 2 | Novel mutations of the DKC1 gene in individuals affec ted with dyskeratosis congenita. (19879169) | Rostamiani K.... Metzenberg A.B. | 2010 | DKC1 |
| 3 | Deregulation of oncogene-induced senescence and p53 t ranslational control in X-linked dyskeratosis congenita. (20453831) | Bellodi C.... Ruggero D. | 2010 | DKC1 |
| 4 | Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcripta se, TERT, or by activation of endogenous telomerase through expression of papil lomavirus E6/E7 or the telomerase RNA component, TERC. (19558498) | Gourronc F.A.... Klingelhutz A.J. | 2010 | TERT, TERC |
| 5 | Effects of dyskeratosis congenita mutations in dysker in, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (20008900) | Trahan C.... Dragon F. | 2010 | DKC1, NHP2, NOP10 |
| 6 | Cyanosis revealing hepatopulmonary syndrome in a chil d with dyskeratosis congenita. (19953657) | Renoux M.C.... Counil F. | 2010 | ALB |
| 7 | An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813) | Balci S.... Vulliamy T. | 2009 | TERT, DKC1, TERC |
| 8 | Identification of a novel mutation in DKC1 in dyskeratosis congenita. (18802941) | Kurnikova M.... Shagin D. | 2009 | DKC1 |
| 9 | Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. (19036115) | Kirwan M.... Dokal I. | 2009 | DKC1, NHP2, NOP10 |
| 10 | Dyskeratosis congenita: a case report. (19615640) | Abdel-Karim A.... Yeoman C.M. | 2009 | DKC1 |
| 11 | Advances in the understanding of dyskeratosis congeni ta. (19208095) | Walne A.J.... Dokal I. | 2009 | DKC1, NHP2, TINF2 |
| 12 | Single-molecule analysis of the human telomerase RNA. dyskerin interaction and the effect of dyskeratosis congenita mutations. (19835419) | Ashbridge B.... Balasubramanian S. | 2009 | DKC1, TERC |
| 13 | Clinical and genetic characteristics of a patient wi th dyskeratosis congenita (20079002) | Li J.G.... Wang T.Y. | 2009 | DKC1 |
| 14 | Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (19095616) | Trahan C.... Dragon F. | 2009 | DKC1, NHP2, NOP10 |
| 15 | X-linked dyskeratosis congenita in Malaysia. (17417794) | Hamidah A.... Kanegane H. | 2008 | DKC1 |
| 16 | TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (18669893) | Walne A.J.... Dokal I. | 2008 | TERT, DKC1, NHP2 |
| 17 | A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. (18057229) | Machado-Pinilla R.... Perona R. | 2008 | TERT, DKC1 |
| 18 | Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita. (17015423) | Wong J.M.... Collins K. | 2006 | DKC1, TERC |
| 19 | Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. (15842668) | Kanegane H.... Miyawaki T. | 2005 | DKC1 |
| 20 | Dyskeratosis congenita: a disorder of defective telomere maintenance? (16207588) | Walne A.J.... Dokal I. | 2005 | DKC1 |
| 21 | Dynamic behavior of the telomerase RNA hairpin structure and its relationship to dyskeratosis congenita. (15808851) | Yingling Y.G.... Shapiro B.A. | 2005 | TERT, TERC |
| 22 | Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. (15753647) | Cerone M.A.... Autexier C. | 2005 | DKC1, TERC |
| 23 | Darier's disease: from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency. (15336971) | Hovnanian A. | 2004 | ATP2A2, ATP2A3 |
| 24 | Telomerase dysfunction and dyskeratosis congenita. (19003239) | Walne A.J.... Dokal I. | 2004 | DKC1 |
| 25 | Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. (15304085) | Ding Y.G.... Wang B.X. | 2004 | DKC1 |
| 26 | Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. (15349768) | Wong J.M.... Collins K. | 2004 | TERC |
| 27 | Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. (12525685) | Theimer C.A.... Feigon J. | 2003 | TERC |
| 28 | YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. (14624001) | Theimer C.A.... Feigon J. | 2003 | TERC |
| 29 | Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. (14630445) | Fogarty P.F.... Young N.S. | 2003 | TERC |
| 30 | Identification of a new RNA.RNA interaction site for human telomerase RNA (hTR): structural implications for hTR accumulation and a dyskeratosis congenita point mutation. (14602909) | Ren X.... Balasubramanian S. | 2003 | TERC |
| 31 | Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217) | Sznajer Y.... Verloes A. | 2003 | DKC1 |
| 32 | Dyskeratosis congenita. (12737310) | Marrone A.... Mason P.J. | 2003 | DKC1 |
| 33 | Dyskeratosis congenita: its link to telomerase and aplastic anaemia. (14556776) | Dokal I.... Vulliamy T. | 2003 | DKC1, TERC |
| 34 | Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin. (12679652) | Erduran E.... Ozoran Y. | 2003 | CSF2 |
| 35 | The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (12736709) | Zucchini C.... Valvassori L. | 2003 | DKC1, TRUB1, TRUB2 |
| 36 | Immunohistochemical examinations of dyskeratosis and exocervical neoplasia in gynecological pathology (12534223) | Frolova I.I.... Babichenko I.I. | 2002 | MKI67 |
| 37 | The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. (11574891) | Vulliamy T.... Dokal I. | 2001 | DKC1, TERC |
| 38 | One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). (11491307) | Heiss N.S.... Poustka A. | 2001 | DKC1 |
| 39 | Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. (11379875) | Knight S.W.... Dokal I. | 2001 | DKC1 |
| 40 | A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. (11170897) | Allingham R.R.... Vance J.M. | 2001 | DKBI |
| 41 | Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. (10700698) | Yaghmai R.... Metzenberg A. | 2000 | DKC1 |
| 42 | X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. (10364516) | Knight S.W.... Poustka A. | 1999 | DKC1 |
| 43 | Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. (10556300) | Heiss N.S.... Poustka A. | 1999 | DKC1 |
| 44 | A telomerase component is defective in the human disease dyskeratosis congenita. (10591218) | Mitchell J.R.... Collins K. | 1999 | DKC1, TERC |
| 45 | Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. (9888995) | Hassock S.... Giannelli F. | 1999 | DKC1 |
| 46 | Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (10583221) | Knight S.W.... Dokal I. | 1999 | DKC1 |
| 47 | Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. (10744426) | Youssoufian H.... Qatanani M. | 1999 | FANCA, DKC1 |
| 48 | X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (9590285) | Heiss N.S.... Dokal I. | 1998 | DKC1 |
| 49 | Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature. (9773234) | SAPlder B.... Belohradsky B.H. | 1998 | IL3 |
| 50 | Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833) | Das S.... Gitschier J. | 1994 | BGN |
