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Dyskerin ablation in mouse liver inhibits rRNA processing and cell division.

Ge J, Rudnick DA, He J, Crimmins DL, Ladenson JH, Bessler M, Mason PJ.

Mol Cell Biol. 2010 Jan;30(2):413-22. doi: 10.1128/MCB.01128-09. Epub 2009 Nov 16.


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.


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.


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.


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.


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.


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.


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.


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.


Dyskeratosis congenita: a disorder of defective telomere maintenance?

Walne AJ, Marrone A, Dokal I.

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


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.


Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin.

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

FEBS Lett. 2013 Jul 11;587(14):2112-7. doi: 10.1016/j.febslet.2013.05.028. Epub 2013 May 28.


Relationship between dyskerin expression and telomerase activity in human breast cancer.

Montanaro L, Calienni M, Ceccarelli C, Santini D, Taffurelli M, Pileri S, Treré D, Derenzini M.

Cell Oncol. 2008;30(6):483-90.


Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.

Gu BW, Zhao C, Fan JM, Dai Q, Bessler M, Mason PJ.

FEBS Lett. 2009 Sep 17;583(18):3086-90. doi: 10.1016/j.febslet.2009.08.038. Epub 2009 Sep 2.


Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.

Machado-Pinilla R, Carrillo J, Manguan-Garcia C, Sastre L, Mentzer A, Gu BW, Mason PJ, Perona R.

Clin Transl Oncol. 2012 Oct;14(10):755-63. doi: 10.1007/s12094-012-0865-4. Epub 2012 Jul 24.


Mutant dyskerin ends relationship with telomerase.

Shay JW, Wright WE.

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


Acute dyskerin depletion triggers cellular senescence and renders osteosarcoma cells resistant to genotoxic stress-induced apoptosis.

Lin P, Mobasher ME, Alawi F.

Biochem Biophys Res Commun. 2014 Apr 18;446(4):1268-75. doi: 10.1016/j.bbrc.2014.03.114. Epub 2014 Mar 29.


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].


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.

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