Gene Review:
DKC1 - dyskeratosis congenita 1, dyskerin
Homo sapiens
Synonyms:
CBF5, CBF5 homolog, DKC, DKCX, Dyskerin, ...
Mitchell,
Wood,
Collins,
Marrone,
Walne,
Dokal,
Vulliamy,
Knight,
Mason,
Dokal,
Youssoufian,
Gharibyan,
Qatanani,
Montanaro,
Brigotti,
Clohessy,
Barbieri,
Ceccarelli,
Santini,
Taffurelli,
Calienni,
Teruya-Feldstein,
Trerè,
Pandolfi,
Derenzini,
Kraemer,
Goebeler,
Heiss,
Bächner,
Salowsky,
Kolb,
Kioschis,
Poustka,
Dokal,
Vulliamy,
Cossu,
Vulliamy,
Marrone,
Badiali,
Cao,
Dokal,
Marrone,
Mason,
Walne,
Marrone,
Dokal,
- Dyskeratosis congenita: telomerase, telomeres and anticipation. Marrone, A., Walne, A., Dokal, I. Curr. Opin. Genet. Dev. (2005)
- A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. Cossu, F., Vulliamy, T.J., Marrone, A., Badiali, M., Cao, A., Dokal, I. Br. J. Haematol. (2002)
- Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Yoon, A., Peng, G., Brandenburger, Y., Brandenburg, Y., Zollo, O., Xu, W., Rego, E., Ruggero, D. Science (2006)
- Dyskerin expression influences the level of ribosomal RNA pseudo-uridylation and telomerase RNA component in human breast cancer. Montanaro, L., Brigotti, M., Clohessy, J., Barbieri, S., Ceccarelli, C., Santini, D., Taffurelli, M., Calienni, M., Teruya-Feldstein, J., Trerè, D., Pandolfi, P.P., Derenzini, M. J. Pathol. (2006)
- Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Knight, S.W., Heiss, N.S., Vulliamy, T.J., Aalfs, C.M., McMahon, C., Richmond, P., Jones, A., Hennekam, R.C., Poustka, A., Mason, P.J., Dokal, I. Br. J. Haematol. (1999)
- Cocrystal structure of a tRNA Psi55 pseudouridine synthase: nucleotide flipping by an RNA-modifying enzyme. Hoang, C., Ferré-D'Amaré, A.R. Cell (2001)
- X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Heiss, N.S., Knight, S.W., Vulliamy, T.J., Klauck, S.M., Wiemann, S., Mason, P.J., Poustka, A., Dokal, I. Nat. Genet. (1998)
- The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P.J., Dokal, I. Nature (2001)
- A telomerase component is defective in the human disease dyskeratosis congenita. Mitchell, J.R., Wood, E., Collins, K. Nature (1999)
- Functional importance of motif I of pseudouridine synthases: mutagenesis of aligned lysine and proline residues. Spedaliere, C.J., Hamilton, C.S., Mueller, E.G. Biochemistry (2000)
- Dyskeratosis congenita. Marrone, A., Mason, P.J. Cell. Mol. Life Sci. (2003)
- Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. Heiss, N.S., Bächner, D., Salowsky, R., Kolb, A., Kioschis, P., Poustka, A. Genomics (2000)
- X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Dokal, I., Poustka, A. Am. J. Hum. Genet. (1999)
- Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. Vulliamy, T.J., Knight, S.W., Heiss, N.S., Smith, O.P., Poustka, A., Dokal, I., Mason, P.J. Blood (1999)
- Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Vulliamy, T.J., Knight, S.W., Mason, P.J., Dokal, I. Blood Cells Mol. Dis. (2001)
- Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Mochizuki, Y., He, J., Kulkarni, S., Bessler, M., Mason, P.J. Proc. Natl. Acad. Sci. U.S.A. (2004)
- DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. Lin, J.H., Lee, J.Y., Tsao, C.J., Chao, S.C. The Kaohsiung journal of medical sciences. (2002)
- Missense mutation in a patient with X-linked dyskeratosis congenita. Kraemer, D.M., Goebeler, M. Haematologica (2003)
- Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Dokal, I., Vulliamy, T. Blood Rev. (2003)
- Dyskeratosis congenita: a disorder of defective telomere maintenance? Walne, A.J., Marrone, A., Dokal, I. Int. J. Hematol. (2005)
- Analysis of epitope-tagged forms of the dyskeratosis congenital protein (dyskerin): identification of a nuclear localization signal. Youssoufian, H., Gharibyan, V., Qatanani, M. Blood Cells Mol. Dis. (1999)
- Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. Ding, Y.G., Zhu, T.S., Jiang, W., Yang, Y., Bu, D.F., Tu, P., Zhu, X.J., Wang, B.X. J. Invest. Dermatol. (2004)