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How shelterin protects mammalian telomeres.

Palm W, de Lange T.

Annu Rev Genet. 2008;42:301-34. doi: 10.1146/annurev.genet.41.110306.130350. Review.


TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP.

Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.


Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.


Protection of telomeres through independent control of ATM and ATR by TRF2 and POT1.

Denchi EL, de Lange T.

Nature. 2007 Aug 30;448(7157):1068-71. Epub 2007 Aug 8.


Telomere protection by mammalian Pot1 requires interaction with Tpp1.

Hockemeyer D, Palm W, Else T, Daniels JP, Takai KK, Ye JZ, Keegan CE, de Lange T, Hammer GD.

Nat Struct Mol Biol. 2007 Aug;14(8):754-61. Epub 2007 Jul 15. Erratum in: Nat Struct Mol Biol. 2009 May;16(5):572.


Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.

Hum Mol Genet. 2007 Jul 1;16(13):1619-29. Epub 2007 May 16.


Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM.

Blood. 2007 Sep 1;110(5):1439-47. Epub 2007 Apr 27.


Protein composition of catalytically active human telomerase from immortal cells.

Cohen SB, Graham ME, Lovrecz GO, Bache N, Robinson PJ, Reddel RR.

Science. 2007 Mar 30;315(5820):1850-3.


Telomerase mutations in families with idiopathic pulmonary fibrosis.

Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE.

N Engl J Med. 2007 Mar 29;356(13):1317-26.


Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

Westin ER, Chavez E, Lee KM, Gourronc FA, Riley S, Lansdorp PM, Goldman FD, Klingelhutz AJ.

Aging Cell. 2007 Jun;6(3):383-94. Epub 2007 Mar 23.


Central role of p53 in the suntan response and pathologic hyperpigmentation.

Cui R, Widlund HR, Feige E, Lin JY, Wilensky DL, Igras VE, D'Orazio J, Fung CY, Schanbacher CF, Granter SR, Fisher DE.

Cell. 2007 Mar 9;128(5):853-64.


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.


Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres.

Hockemeyer D, Daniels JP, Takai H, de Lange T.

Cell. 2006 Jul 14;126(1):63-77.


Pot1 deficiency initiates DNA damage checkpoint activation and aberrant homologous recombination at telomeres.

Wu L, Multani AS, He H, Cosme-Blanco W, Deng Y, Deng JM, Bachilo O, Pathak S, Tahara H, Bailey SM, Deng Y, Behringer RR, Chang S.

Cell. 2006 Jul 14;126(1):49-62.


How a single protein complex accommodates many different H/ACA RNAs.

Meier UT.

Trends Biochem Sci. 2006 Jun;31(6):311-5. Epub 2006 May 2. Review.


Telomere length homeostasis requires that telomerase levels are limiting.

Cristofari G, Lingner J.

EMBO J. 2006 Feb 8;25(3):565-74. Epub 2006 Jan 19.


Short telomeres, even in the presence of telomerase, limit tissue renewal capacity.

Hao LY, Armanios M, Strong MA, Karim B, Feldser DM, Huso D, Greider CW.

Cell. 2005 Dec 16;123(6):1121-31.


Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW.

Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. Epub 2005 Oct 24.


Shelterin: the protein complex that shapes and safeguards human telomeres.

de Lange T.

Genes Dev. 2005 Sep 15;19(18):2100-10. Review.


Conditional telomerase induction causes proliferation of hair follicle stem cells.

Sarin KY, Cheung P, Gilison D, Lee E, Tennen RI, Wang E, Artandi MK, Oro AE, Artandi SE.

Nature. 2005 Aug 18;436(7053):1048-52.

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