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Items: 1 to 20 of 192

1.

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.

Heiss NS, Girod A, Salowsky R, Wiemann S, Pepperkok R, Poustka A.

Hum Mol Genet. 1999 Dec;8(13):2515-24.

PMID:
10556300
2.

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

Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I.

Nat Genet. 1998 May;19(1):32-8.

PMID:
9590285
3.

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 Oct-Dec;25(5-6):305-9.

PMID:
10744426
4.

A telomerase component is defective in the human disease dyskeratosis congenita.

Mitchell JR, Wood E, Collins K.

Nature. 1999 Dec 2;402(6761):551-5.

PMID:
10591218
5.

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

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A.

Am J Hum Genet. 1999 Jul;65(1):50-8.

6.

Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.

Heiss NS, Bächner D, Salowsky R, Kolb A, Kioschis P, Poustka A.

Genomics. 2000 Jul 15;67(2):153-63.

PMID:
10903840
7.

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.

Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I.

Hum Genet. 2001 Apr;108(4):299-303.

PMID:
11379875
8.

Identification of nucleolus localization signal of betanodavirus GGNNV protein alpha.

Guo YX, Dallmann K, Kwang J.

Virology. 2003 Feb 15;306(2):225-35.

9.

Dynamic interactions between splicing snRNPs, coiled bodies and nucleoli revealed using snRNP protein fusions to the green fluorescent protein.

Sleeman J, Lyon CE, Platani M, Kreivi JP, Lamond AI.

Exp Cell Res. 1998 Sep 15;243(2):290-304.

PMID:
9743589
10.
11.

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.

He J, Navarrete S, Jasinski M, Vulliamy T, Dokal I, Bessler M, Mason PJ.

Oncogene. 2002 Oct 31;21(50):7740-4.

12.

Protein localization to the nucleolus: a search for targeting domains in nucleolin.

Schmidt-Zachmann MS, Nigg EA.

J Cell Sci. 1993 Jul;105 ( Pt 3):799-806.

13.

Peptide domains involved in the localization of the porcine reproductive and respiratory syndrome virus nucleocapsid protein to the nucleolus.

Rowland RR, Schneider P, Fang Y, Wootton S, Yoo D, Benfield DA.

Virology. 2003 Nov 10;316(1):135-45.

15.

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.

Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ.

Blood. 1999 Aug 15;94(4):1254-60.

16.

Nuclear/nucleolar localization properties of C-terminal nucleocapsid protein of SARS coronavirus.

Timani KA, Liao Q, Ye L, Zeng Y, Liu J, Zheng Y, Ye L, Yang X, Lingbao K, Gao J, Zhu Y.

Virus Res. 2005 Dec;114(1-2):23-34. Epub 2005 Jun 29.

PMID:
15992957
17.

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 PP, Derenzini M.

J Pathol. 2006 Sep;210(1):10-8.

PMID:
16841302
18.

Dyskeratosis congenita: a disorder of defective telomere maintenance?

Walne AJ, Marrone A, Dokal I.

Int J Hematol. 2005 Oct;82(3):184-9. Review.

PMID:
16207588
19.

C-terminal domain of the mitotic apparatus protein p62 targets the protein to the nucleolus during interphase.

Warner AK, Sloboda RD.

Cell Motil Cytoskeleton. 1999;44(1):68-80. Erratum in: Cell Motil Cytoskeleton 1999 Nov;44(3):225-6.

PMID:
10470020
20.

Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.

Hassock S, Vetrie D, Giannelli F.

Genomics. 1999 Jan 1;55(1):21-7.

PMID:
9888995

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