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Results: 1 to 20 of 129

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
[PubMed - indexed for MEDLINE]
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.

PMID:
10364516
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
11833778
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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.

PMID:
16427014
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
10438713
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
10.

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

Kraemer DM, Goebeler M.

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

PMID:
12681984
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.

Lin JH, Lee JY, Tsao CJ, Chao SC.

Kaohsiung J Med Sci. 2002 Nov;18(11):573-7.

PMID:
12513020
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

The lysine-rich C-terminal repeats of the centromere-binding factor 5 (Cbf5) of Kluyveromyces lactis are not essential for function.

Winkler AA, Bobok A, Zonneveld BJ, Steensma HY, Hooykaas PJ.

Yeast. 1998 Jan 15;14(1):37-48.

PMID:
9483794
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.

Li S, Duan J, Li D, Ma S, Ye K.

EMBO J. 2011 Nov 25;30(24):5010-20. doi: 10.1038/emboj.2011.427.

PMID:
22117216
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140.

Yang Y, Isaac C, Wang C, Dragon F, Pogacic V, Meier UT.

Mol Biol Cell. 2000 Feb;11(2):567-77.

PMID:
10679015
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Dyskeratosis congenita.

Marrone A, Mason PJ.

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

PMID:
12737310
[PubMed - indexed for MEDLINE]

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