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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.


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.


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.


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.


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.


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.


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.


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.


Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.

Bellodi C, Krasnykh O, Haynes N, Theodoropoulou M, Peng G, Montanaro L, Ruggero D.

Cancer Res. 2010 Jul 15;70(14):6026-35. doi: 10.1158/0008-5472.CAN-09-4730. Epub 2010 Jun 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].


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.


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.


Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

Schwartz S, Bernstein DA, Mumbach MR, Jovanovic M, Herbst RH, León-Ricardo BX, Engreitz JM, Guttman M, Satija R, Lander ES, Fink G, Regev A.

Cell. 2014 Sep 25;159(1):148-162. doi: 10.1016/j.cell.2014.08.028. Epub 2014 Sep 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.


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.


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.


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.


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.


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.


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