Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 192

1.

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.

Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C, Pandolfi PP.

Science. 2003 Jan 10;299(5604):259-62.

PMID:
12522253
[PubMed - indexed for MEDLINE]
Free Article
2.

Dissecting dyskeratosis.

Meier UT.

Nat Genet. 2003 Feb;33(2):116-7. No abstract available.

PMID:
12560816
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A, Dokal I.

Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. Review.

PMID:
15613268
[PubMed - indexed for MEDLINE]
5.

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.

Yoon A, Peng G, Brandenburger Y, Zollo O, Xu W, Rego E, Ruggero D.

Science. 2006 May 12;312(5775):902-6. Erratum in: Science. 2006 Sep;313(5791):1238. Brandenburg, Yves [corrected to Brandenburger, Yves].

PMID:
16690864
[PubMed - indexed for MEDLINE]
Free Article
6.

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 PJ.

Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10756-61. Epub 2004 Jul 7.

PMID:
15240872
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.

Thumati NR, Zeng XL, Au HH, Jang CJ, Jan E, Wong JM.

Hum Mutat. 2013 Dec;34(12):1698-707. doi: 10.1002/humu.22447. Epub 2013 Oct 21.

PMID:
24115260
[PubMed - indexed for MEDLINE]
8.

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]
9.

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I.

Biochimie. 2008 Jan;90(1):122-30. Epub 2007 Jul 31. Review.

PMID:
17825470
[PubMed - indexed for MEDLINE]
10.

Stem cells, telomerase and dyskeratosis congenita.

Mason PJ.

Bioessays. 2003 Feb;25(2):126-33. Review.

PMID:
12539238
[PubMed - indexed for MEDLINE]
11.

Mutant dyskerin ends relationship with telomerase.

Shay JW, Wright WE.

Science. 1999 Dec 17;286(5448):2284-5. No abstract available.

PMID:
10636790
[PubMed - indexed for MEDLINE]
12.

Dyskeratosis congenita: a genetic disorder of many faces.

Kirwan M, Dokal I.

Clin Genet. 2008 Feb;73(2):103-12. Epub 2007 Nov 14. Review.

PMID:
18005359
[PubMed - indexed for MEDLINE]
13.

Dyskeratosis congenita and telomerase.

Bessler M, Wilson DB, Mason PJ.

Curr Opin Pediatr. 2004 Feb;16(1):23-8. Review.

PMID:
14758110
[PubMed - indexed for MEDLINE]
14.

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.

Gu BW, Bessler M, Mason PJ.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10173-8. doi: 10.1073/pnas.0803559105. Epub 2008 Jul 14.

PMID:
18626023
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.

Cerone MA, Ward RJ, Londoño-Vallejo JA, Autexier C.

Cell Cycle. 2005 Apr;4(4):585-9. Epub 2005 Apr 3.

PMID:
15753647
[PubMed - indexed for MEDLINE]
Free Article
16.

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
17.

Dyskeratosis congenita: telomerase, telomeres and anticipation.

Marrone A, Walne A, Dokal I.

Curr Opin Genet Dev. 2005 Jun;15(3):249-57. Review.

PMID:
15917199
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
12400016
[PubMed - indexed for MEDLINE]
Free Article
19.

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]
20.

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.

Wong JM, Collins K.

Genes Dev. 2006 Oct 15;20(20):2848-58. Epub 2006 Oct 2.

PMID:
17015423
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk