Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 90

1.

A new human dyskerin isoform with cytoplasmic localization.

Angrisani A, Turano M, Paparo L, Di Mauro C, Furia M.

Biochim Biophys Acta. 2011 Dec;1810(12):1361-8. doi: 10.1016/j.bbagen.2011.07.012. Epub 2011 Jul 23.

PMID:
21820037
2.

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.

3.

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
4.

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
5.

Intron retention: a human DKC1 gene common splicing event.

Turano M, Angrisani A, Di Maio N, Furia M.

Biochem Cell Biol. 2013 Dec;91(6):506-12. doi: 10.1139/bcb-2013-0047. Epub 2013 Sep 3.

PMID:
24219293
6.

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
7.

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.

8.

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

Gu BW, Apicella M, Mills J, Fan JM, Reeves DA, French D, Podsakoff GM, Bessler M, Mason PJ.

PLoS One. 2015 May 18;10(5):e0127414. doi: 10.1371/journal.pone.0127414. eCollection 2015.

9.

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
10.

Human dyskerin: beyond telomeres.

Angrisani A, Vicidomini R, Turano M, Furia M.

Biol Chem. 2014 Jun;395(6):593-610. doi: 10.1515/hsz-2013-0287. Review.

PMID:
24468621
11.

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

Parry EM, Alder JK, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, Armanios M.

J Med Genet. 2011 May;48(5):327-33. doi: 10.1136/jmg.2010.085100. Epub 2011 Mar 17.

12.

Accelerated hematopoietic stem cell aging in a mouse model of dyskeratosis congenita responds to antioxidant treatment.

Gu BW, Fan JM, Bessler M, Mason PJ.

Aging Cell. 2011 Apr;10(2):338-48. doi: 10.1111/j.1474-9726.2011.00674.x. Epub 2011 Feb 21.

13.

DKC1 overexpression associated with prostate cancer progression.

Sieron P, Hader C, Hatina J, Engers R, Wlazlinski A, Müller M, Schulz WA.

Br J Cancer. 2009 Oct 20;101(8):1410-6. doi: 10.1038/sj.bjc.6605299. Epub 2009 Sep 15.

14.

Dyskerin, telomerase and the DNA damage response.

Gu B, Bessler M, Mason PJ.

Cell Cycle. 2009 Jan 1;8(1):6-10. Epub 2009 Jan 24. Review.

PMID:
19106610
15.

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
16.

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.

17.

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
18.

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
19.

p53 pathway activation by telomere attrition in X-DC primary fibroblasts occurs in the absence of ribosome biogenesis failure and as a consequence of DNA damage.

Carrillo J, González A, Manguán-García C, Pintado-Berninches L, Perona R.

Clin Transl Oncol. 2014 Jun;16(6):529-38. doi: 10.1007/s12094-013-1112-3. Epub 2013 Sep 25.

PMID:
24065372
20.

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

Brault ME, Lauzon C, Autexier C.

Hum Mol Genet. 2013 Sep 1;22(17):3498-507. doi: 10.1093/hmg/ddt204. Epub 2013 May 8. Erratum in: Hum Mol Genet. 2014 Jan 1;23(1):279-80.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk