Dyskeratosis congenita

Dyskeratosis congenita (DC)
Philip J Mason
http://www.siteman.wustl.edu/

Dyskeratosis congenita
Clinical features
http://web.campbell.edu/

Dyskeratosis
Carol Greider
http://www.pitt.edu/

Genodermatosis
http://www.atsu.edu
http://www.atsu.edu/ 2

Neonatal Anemia
Lakshmi Venkateswaran MD
http://www.bcm.edu/

Telomere Replication
http://lfromm.iweb.bsu.edu

Dyskeratosis congenita (haplo-insufficiency)
http://www.bio.brandeis.edu

Causes of Aplastic Anemia
Smita Joshi, Dr. Stock
http://medchiefs.bsd.uchicago.edu

A Brief Introduction to Umbilical Cord Blood
Christina Bemrich
http://www.uab.edu


99 free access published articles
1.       Zhang Y, Morimoto K, Danilova N, Zhang B, Lin S. Zebrafish models fordyskeratosis congenita reveal critical roles of p53 activation contributing tohematopoietic defects through RNA processing. PLoS One. 2012;7(1):e30188. Epub2012 Jan 27.
2.       Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program.2011;2011:480-6. Review.
3.       Chakrabarti N, Sarma N, Chattopadhyay C, Chowdhuri AR, Das C, Pal SK. A caseof dyskeratosis congenita with primary amenorrhea and adenocarcinoma of stomach. Indian J Dermatol. 2011 Sep-Oct;56(5):594-6.
4.       Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA.Telomere length is associated with disease severity and declines with age indyskeratosis congenita. Haematologica. 2012 Mar;97(3):353-9. Epub 2011 Nov 4.
5.       Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, Savage SA. Lungtransplantation for pulmonary fibrosis in dyskeratosis congenita. Case Report andsystematic literature review. BMC Blood Disord. 2011 Jun 15;11:3.
6.       Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J,Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, ReijoPera RA, Artandi SE. Telomere shortening and loss of self-renewal in dyskeratosiscongenita induced pluripotent stem cells. Nature. 2011 May 22;474(7351):399-402. doi. 10.1038/nature10084.
7.       Yang D, He Q, Kim H, Ma W, Songyang Z. TIN2 protein dyskeratosis congenitamissense mutants are defective in association with telomerase. J Biol Chem. 2011 Jul 1;286(26):23022-30. Epub 2011 May 2.
8.       Kirwan M, Beswick R, Walne AJ, Hossain U, Casimir C, Vulliamy T, Dokal I.Dyskeratosis congenita and the DNA damage response. Br J Haematol. 2011Jun;153(5):634-43. doi. 10.1111/j.1365-2141.2011.08679.x. Epub 2011 Apr 8.
9.       Parry EM, Alder JK, Lee SS, Phillips JA 3rd, Loyd JE, Duggal P, Armanios M.Decreased dyskerin levels as a mechanism of telomere shortening in X-linkeddyskeratosis congenita. J Med Genet. 2011 May;48(5):327-33. Epub 2011 Mar 17.
10.   Gu BW, Fan JM, Bessler M, Mason PJ. Accelerated hematopoietic stem cell agingin a mouse model of dyskeratosis congenita responds to antioxidant treatment.Aging Cell. 2011 Apr;10(2):338-48. doi. 10.1111/j.1474-9726.2011.00674.x. Epub2011 Feb 21.
11.   Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP,Artandi SE. Disruption of telomerase trafficking by TCAB1 mutation causesdyskeratosis congenita. Genes Dev. 2011 Jan 1;25(1):11-6.
12.   Westin ER, Aykin-Burns N, Buckingham EM, Spitz DR, Goldman FD, KlingelhutzAJ. The p53/p21(WAF/CIP) pathway mediates oxidative stress and senescence indyskeratosis congenita cells with telomerase insufficiency. Antioxid RedoxSignal. 2011 Mar 15;14(6):985-97. Epub 2011 Jan 17.
13.   Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. Mutations in C16orf57 andnormal-length telomeres unify a subset of patients with dyskeratosis congenita,poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. Epub 2010 Sep 3.
14.   Bessler M, Wilson DB, Mason PJ. Dyskeratosis congenita. FEBS Lett. 2010 Sep10;584(17):3831-8. Epub 2010 May 21.
15.   Bellodi C, Kopmar N, Ruggero D. Deregulation of oncogene-induced senescenceand p53 translational control in X-linked dyskeratosis congenita. EMBO J. 2010Jun 2;29(11):1865-76. Epub 2010 May 7.
16.   Savage SA. Dyskeratosis Congenita. 2009 Nov 12 [updated 2012 May 10]. In:Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™[Internet]. Seattle (WA). University of Washington, Seattle; 1993-. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK22301/
17.   Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, OkukaM, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L,Daley GQ. Telomere elongation in induced pluripotent stem cells from dyskeratosiscongenita patients. Nature. 2010 Mar 11;464(7286):292-6. Epub 2010 Feb 17.
18.   Reiger Z, Varga G, Tóth B, Maródi L, Erdos M. [Molecular diagnosis andtherapeutic measures in patients with dyskeratosis congenita]. Orv Hetil. 2010Feb 21;151(8):285-92. Review. Hungarian.
19.   Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ocular andorbital manifestations of the inherited bone marrow failure syndromes. Fanconianemia and dyskeratosis congenita. Ophthalmology. 2010 Mar;117(3):615-22. Epub2009 Dec 22.
20.   Trahan C, Martel C, Dragon F. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. Hum Mol Genet. 2010 Mar1;19(5):825-36. Epub 2009 Dec 15.
21.   Ashbridge B, Orte A, Yeoman JA, Kirwan M, Vulliamy T, Dokal I, Klenerman D,Balasubramanian S. Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations. Biochemistry.2009 Nov 24;48(46):10858-65.
22.   Boueiz A, Abougergi MS, Noujeim C, Assaf EB, Jamaleddine G. Fatal bilateralpneumothoraces complicating dyskeratosis congenita. a case report. J Med CaseRep. 2009 Mar 26;3:6622.
23.   Grozdanov PN, Fernandez-Fuentes N, Fiser A, Meier UT. Pathogenic NAP57mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. Hum Mol Genet. 2009 Dec 1;18(23):4546-51. Epub 2009 Sep 4.
24.   Gourronc FA, Robertson M, Herrig AK, Lansdorp PM, Goldman FD, Klingelhutz AJ.Proliferative defects in dyskeratosis congenita skin keratinocytes are corrected by expression of the telomerase reverse transcriptase, TERT, or by activation of endogenous telomerase through expression of papillomavirus E6/E7 or thetelomerase RNA component, TERC. Exp Dermatol. 2010 Mar;19(3):279-88. Epub 2009Jun 23.
25.   Khan S. Immunological abnormalities in dyskeratosis congenita. IndianPediatr. 2009 May;46(5):448; author reply 448.
26.   Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009 Apr;1792(4):371-9. Epub 2009 Feb 7. Review.
27.   Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N,Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, AlterBP. Dyskeratosis congenita. the first NIH clinical research workshop. PediatrBlood Cancer. 2009 Sep;53(3):520-3.
28.   Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am.2009 Apr;23(2):215-31.
29.   Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009 Jun 25;113(26):6549-57. Epub 2009 Mar 12. Review.
30.   Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita.Br J Haematol. 2009 Apr;145(2):164-72. Epub 2009 Feb 4. Review.
31.   Trahan C, Dragon F. Dyskeratosis congenita mutations in the H/ACA domain ofhuman telomerase RNA affect its assembly into a pre-RNP. RNA. 2009Feb;15(2):235-43. Epub 2008 Dec 17.
32.   Deniz A. Letter to the editor. The mode of inheritance' in differentiation ofFanconi anemia from Dyskeratosis congenita. Med Oral Patol Oral Cir Bucal. 2008Nov 1;13(11):E681-2.
33.   Atkinson JC, Harvey KE, Domingo DL, Trujillo MI, Guadagnini JP, Gollins S,Giri N, Hart TC, Alter BP. Oral and dental phenotype of dyskeratosis congenita.Oral Dis. 2008 Jul;14(5):419-27.
34.   He H, Wang Y, Guo X, Ramchandani S, Ma J, Shen MF, Garcia DA, Deng Y, MultaniAS, You MJ, Chang S. Pot1b deletion and telomerase haploinsufficiency in miceinitiate an ATR-dependent DNA damage response and elicit phenotypes resemblingdyskeratosis congenita. Mol Cell Biol. 2009 Jan;29(1):229-40. Epub 2008 Oct 20.
35.   Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result invery short telomeres. analysis of a large cohort of patients with dyskeratosiscongenita and related bone marrow failure syndromes. Blood. 2008 Nov1;112(9):3594-600. Epub 2008 Jul 30.
36.   Autexier C. POT of gold. modeling dyskeratosis congenita in the mouse. Genes Dev. 2008 Jul 1;22(13):1731-6.
37.   Hockemeyer D, Palm W, Wang RC, Couto SS, de Lange T. Engineered telomeredegradation models dyskeratosis congenita. Genes Dev. 2008 Jul 1;22(13):1773-85. Epub 2008 Jun 11.
38.   Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.Mutations in the telomerase component NHP2 cause the premature ageing syndromedyskeratosis congenita. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8.Epub 2008 Jun 3.
39.   Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, VulliamyT. Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica. 2008 Jun;93(6):943-4. Epub 2008 May 6.
40.   Hoareau-Aveilla C, Henry Y, Leblanc T. [Dyskeratosis congenita, a diseasecaused by defective telomere maintenance]. Med Sci (Paris). 2008 Apr;24(4):390-8.Review. French.
41.   Goldman FD, Aubert G, Klingelhutz AJ, Hills M, Cooper SR, Hamilton WS,Schlueter AJ, Lambie K, Eaves CJ, Lansdorp PM. Characterization of primitivehematopoietic cells from patients with dyskeratosis congenita. Blood. 2008 May1;111(9):4523-31. Epub 2008 Feb 29.
42.   Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, acomponent of the shelterin telomere protection complex, is mutated indyskeratosis congenita. Am J Hum Genet. 2008 Feb;82(2):501-9. Epub 2008 Jan 31.
43.   Machado-Pinilla R, Sánchez-Pérez I, Murguía JR, Sastre L, Perona R. Adyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenitaand in telomerase-deficient human cells. Blood. 2008 Mar 1;111(5):2606-14. Epub2007 Dec 5.
44.   Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M. Complex inheritance pattern of dyskeratosis congenita in two families with 2different mutations in the telomerase reverse transcriptase gene. Blood. 2008 Feb1;111(3):1128-30. Epub 2007 Nov 27.
45.   Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T,Dokal I. Telomerase reverse-transcriptase homozygous mutations in autosomalrecessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007Dec 15;110(13):4198-205. Epub 2007 Sep 4.
46.   Auluck A. Dyskeratosis congenita. Report of a case with literature review.Med Oral Patol Oral Cir Bucal. 2007 Sep 1;12(5):E369-73. Review.
47.   Bessler M, Du HY, Gu B, Mason PJ. Dysfunctional telomeres and dyskeratosiscongenita. Haematologica. 2007 Aug;92(8):1009-12.
48.   Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007 Jul 1;16(13):1619-29. Epub 2007 May 16.
49.   Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP,Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescencein situ hybridization identifies patients with dyskeratosis congenita. Blood.2007 Sep 1;110(5):1439-47. Epub 2007 Apr 27.
50.   Westin ER, Chavez E, Lee KM, Gourronc FA, Riley S, Lansdorp PM, Goldman FD,Klingelhutz AJ. Telomere restoration and extension of proliferative lifespan indyskeratosis congenita fibroblasts. Aging Cell. 2007 Jun;6(3):383-94. Epub 2007Mar 23.
51.   Yingling YG, Shapiro BA. The impact of dyskeratosis congenita mutations onthe structure and dynamics of the human telomerase RNA pseudoknot domain. JBiomol Struct Dyn. 2007 Feb;24(4):303-20.
52.   Wong JM, Collins K. Telomerase RNA level limits telomere maintenance inX-linked dyskeratosis congenita. Genes Dev. 2006 Oct 15;20(20):2848-58. Epub 2006Oct 2.
53.   Yazgan Y, Demirtürk L, Ozel M, Başekim C. A case of dyskeratosis congenitawith portal hypertension associated with jugular venous anomaly. Turk JGastroenterol. 2006 Mar;17(1):66-9.
54.   Yoon A, Peng G, Brandenburger Y, Zollo O, Xu W, Rego E, Ruggero D. Impairedcontrol of IRES-mediated translation in X-linked dyskeratosis congenita. Science.2006 May 12;312(5775):902-6. Erratum in. Science. 2006 Sep;313(5791):1238.Brandenburg, Yves [corrected to Brandenburger, Yves].
55.   Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations indyskeratosis congenita. their impact on telomere length and the diversity ofclinical presentation. Blood. 2006 Apr 1;107(7):2680-5. Epub 2005 Dec 6.
56.   Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, EshlemanJR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Haploinsufficiency oftelomerase reverse transcriptase leads to anticipation in autosomal dominantdyskeratosis congenita. Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4.Epub 2005 Oct 24.
57.   Huang HM, Yu WL, Huang YL, Hwang WS, Tsao CJ, Liu HS, Huang GC. Aplasticanemia associated with dyskeratosis congenita treated with antilymphocyteglobulin and cyclosporine. a case report. Chin Med J (Engl). 2005 May5;118(9):790-2.
58.   Ly H, Schertzer M, Jastaniah W, Davis J, Yong SL, Ouyang Q, Blackburn EH,Parslow TG, Lansdorp PM. Identification and functional characterization of 2variant alleles of the telomerase RNA template gene (TERC) in a patient withdyskeratosis congenita. Blood. 2005 Aug 15;106(4):1246-52. Epub 2005 May 10.
59.   Cerone MA, Ward RJ, Londoño-Vallejo JA, Autexier C. Telomerase RNA mutated inautosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. Cell Cycle. 2005 Apr;4(4):585-9. Epub 2005 Apr 3.
60.   Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reducetelomerase activity via haploinsufficiency. Blood. 2004 Dec 15;104(13):3936-42.Epub 2004 Aug 19.
61.   Ding YG, Zhu TS, Jiang W, Yang Y, Bu DF, Tu P, Zhu XJ, Wang BX.Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. J Invest Dermatol. 2004 Sep;123(3):470-3.
62.   Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F. Association of immuneabnormalities with telomere shortening in autosomal-dominant dyskeratosiscongenita. Blood. 2005 Jan 15;105(2):682-8. Epub 2004 Jul 6.
63.   Theimer CA, Finger LD, Feigon J. YNMG tetraloop formation by a dyskeratosiscongenita mutation in human telomerase RNA. RNA. 2003 Dec;9(12):1446-55.
64.   Ren X, Gavory G, Li H, Ying L, Klenerman D, Balasubramanian S. Identificationof a new RNA.RNA interaction site for human telomerase RNA (hTR). structuralimplications for hTR accumulation and a dyskeratosis congenita point mutation.Nucleic Acids Res. 2003 Nov 15;31(22):6509-15.
65.   Henras A, Dez C, Caizergues-Ferrer M, Henry Y. [Dyskeratosis congenita. whois guilty?]. Med Sci (Paris). 2003 Aug-Sep;19(8-9):792-4. French.
66.   Kraemer DM, Goebeler M. Missense mutation in a patient with X-linkeddyskeratosis congenita. Haematologica. 2003 Apr;88(4):ECR11.
67.   Theimer CA, Finger LD, Trantirek L, Feigon J. Mutations linked todyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):449-54. Epub 2003 Jan 13.
68.   Ruggero D, Grisendi S, Piazza F, Rego E, Mari F, Rao PH, Cordon-Cardo C,Pandolfi PP. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNAmodification. Science. 2003 Jan 10;299(5604):259-62.
69.   He J, Navarrete S, Jasinski M, Vulliamy T, Dokal I, Bessler M, Mason PJ.Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita,causes embryonic lethality in mice. Oncogene. 2002 Oct 31;21(50):7740-4.
70.   Montanaro L, Chillà A, Trerè D, Pession A, Govoni M, Tazzari PL, Derenzini M.Increased mortality rate and not impaired ribosomal biogenesis is responsible forproliferative defect in dyskeratosis congenita cell lines. J Invest Dermatol.2002 Jan;118(1):193-8.
71.   Safa WF, Lestringant GG, Frossard PM. X-linked dyskeratosis congenita:restrictive pulmonary disease and a novel mutation. Thorax. 2001Nov;56(11):891-4. Review.
72.   Viprakasit V, Tanphaichitr VS. Recurrent A353V mutation in a Thai family withX-linked dyskeratosis congenita. Haematologica. 2001 Aug;86(8):871-2.
73.   Heiss NS, Girod A, Salowsky R, Wiemann S, Pepperkok R, Poustka A. Dyskerinlocalizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum Mol Genet. 1999Dec;8(13):2515-24.
74.   Mazereeuw-Hautier J, Cayrol-Baudouin C, Lachgar S, Pinteaux M, Cambon L,Charveron M, Bonafé J. A case of dyskeratosis congenita associated with impaired DNA repair as shown by the comet assay. Eur J Dermatol. 1999 Oct-Nov;9(7):529-32.
75.   Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ.Dyskeratosis congenita caused by a 3' deletion. germline and somatic mosaicism ina female carrier. Blood. 1999 Aug 15;94(4):1254-60.
76.   Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS,Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A. X-linked dyskeratosiscongenita is predominantly caused by missense mutations in the DKC1 gene. Am JHum Genet. 1999 Jul;65(1):50-8.
77.   Ghavamzadeh A, Alimoghadam K, Nasseri P, Jahani M, Khodabandeh A, Ghahremani G. Correction of bone marrow failure in dyskeratosis congenita by bone marrowtransplantation. Bone Marrow Transplant. 1999 Feb;23(3):299-301.
78.   Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devriendt K, Connor JM, D'Urso M, Poustka A, Mason PJ, Dokal I. 1.4 Mb candidate gene region for X linkeddyskeratosis congenita defined by combined haplotype and X chromosomeinactivation analysis. J Med Genet. 1998 Dec;35(12):993-6.
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