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Items: 1 to 20 of 131

1.

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
2.

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.

3.

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
4.

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
5.

Cloning and characterization of Arabidopsis thaliana AtNAP57--a homologue of yeast pseudouridine synthase Cbf5p.

Maceluch J, Kmieciak M, Szweykowska-Kulińska Z, Jarmołowski A.

Acta Biochim Pol. 2001;48(3):699-709.

6.

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
7.

Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

Rashid R, Liang B, Baker DL, Youssef OA, He Y, Phipps K, Terns RM, Terns MP, Li H.

Mol Cell. 2006 Jan 20;21(2):249-60.

8.

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.

9.

The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.

Zucchini C, Strippoli P, Biolchi A, Solmi R, Lenzi L, D'Addabbo P, Carinci P, Valvassori L.

Int J Mol Med. 2003 Jun;11(6):697-704.

PMID:
12736709
10.

Missense mutation in a patient with X-linked dyskeratosis congenita.

Kraemer DM, Goebeler M.

Haematologica. 2003 Apr;88(4):ECR11.

11.

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
12.

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
13.

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.

Hiramatsu H, Fujii T, Kitoh T, Sawada M, Osaka M, Koami K, Irino T, Miyajima T, Ito M, Sugiyama T, Okuno T.

Pediatr Hematol Oncol. 2002 Sep;19(6):413-9.

PMID:
12186364
14.
15.

The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast.

Phillips B, Billin AN, Cadwell C, Buchholz R, Erickson C, Merriam JR, Carbon J, Poole SJ.

Mol Gen Genet. 1998 Oct;260(1):20-9.

PMID:
9829824
16.

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.

Kanegane H, Kasahara Y, Okamura J, Hongo T, Tanaka R, Nomura K, Kojima S, Miyawaki T.

Br J Haematol. 2005 May;129(3):432-4.

PMID:
15842668
17.

Dyskeratosis congenita.

Marrone A, Mason PJ.

Cell Mol Life Sci. 2003 Mar;60(3):507-17. Review.

PMID:
12737310
18.

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).

Heiss NS, Mégarbané A, Klauck SM, Kreuz FR, Makhoul E, Majewski F, Poustka A.

Genet Couns. 2001;12(2):129-36.

PMID:
11491307

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