BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 29514627)

  • 1. A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.
    Shao Y; Feng S; Huang J; Huo J; You Y; Zheng Y
    BMC Med Genet; 2018 Mar; 19(1):40. PubMed ID: 29514627
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 16(13):1619-29. PubMed ID: 17507419
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 110(13):4198-205. PubMed ID: 17785587
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family.
    He C; Jing S; Dai C; Tu C; Tan Z; Du J; Lu GX; Lin G; Zeng S
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00709. PubMed ID: 31119896
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
    Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
    Blood; 2008 Nov; 112(9):3594-600. PubMed ID: 18669893
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
    Zhong F; Savage SA; Shkreli M; Giri N; Jessop L; Myers T; Chen R; Alter BP; Artandi SE
    Genes Dev; 2011 Jan; 25(1):11-6. PubMed ID: 21205863
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
    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; Reijo Pera RA; Artandi SE
    Nature; 2011 May; 474(7351):399-402. PubMed ID: 21602826
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
    Alder JK; Parry EM; Yegnasubramanian S; Wagner CL; Lieblich LM; Auerbach R; Auerbach AD; Wheelan SJ; Armanios M
    Hum Mutat; 2013 Nov; 34(11):1481-5. PubMed ID: 23946118
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
    Carrillo J; Martínez P; Solera J; Moratilla C; González A; Manguán-García C; Aymerich M; Canal L; Del Campo M; Dapena JL; Escoda L; García-Sagredo JM; Martín-Sala S; Rives S; Sevilla J; Sastre L; Perona R
    Blood Cells Mol Dis; 2012 Oct 15-Dec 15; 49(3-4):140-6. PubMed ID: 22664374
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
    Ballew BJ; Joseph V; De S; Sarek G; Vannier JB; Stracker T; Schrader KA; Small TN; O'Reilly R; Manschreck C; Harlan Fleischut MM; Zhang L; Sullivan J; Stratton K; Yeager M; Jacobs K; Giri N; Alter BP; Boland J; Burdett L; Offit K; Boulton SJ; Savage SA; Petrini JH
    PLoS Genet; 2013 Aug; 9(8):e1003695. PubMed ID: 24009516
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.
    Frescas D; de Lange T
    Genes Dev; 2014 Jan; 28(2):153-66. PubMed ID: 24449270
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.
    Mason PJ; Wilson DB; Bessler M
    Curr Mol Med; 2005 Mar; 5(2):159-70. PubMed ID: 15974869
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
    Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
    Hum Mol Genet; 2010 Nov; 19(22):4453-61. PubMed ID: 20817924
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Recent progress in dyskeratosis congenita.
    Nishio N; Kojima S
    Int J Hematol; 2010 Oct; 92(3):419-24. PubMed ID: 20882440
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
    Vulliamy T; Marrone A; Szydlo R; Walne A; Mason PJ; Dokal I
    Nat Genet; 2004 May; 36(5):447-9. PubMed ID: 15098033
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
    Çepni E; Satkın NB; Moheb LA; Rocha ME; Kayserili H
    Am J Med Genet A; 2022 Apr; 188(4):1226-1232. PubMed ID: 34890115
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
    Gramatges MM; Qi X; Sasa GS; Chen JJ; Bertuch AA
    Blood; 2013 May; 121(18):3586-93. PubMed ID: 23538340
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 102(44):15960-4. PubMed ID: 16247010
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The biology and management of dyskeratosis congenita and related disorders of telomeres.
    Tummala H; Walne A; Dokal I
    Expert Rev Hematol; 2022 Aug; 15(8):685-696. PubMed ID: 35929966
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
    Savage SA; Jones K; Teshome K; Lori A; McReynolds LJ; Niewisch MR
    Hum Mutat; 2022 Dec; 43(12):1856-1859. PubMed ID: 36116037
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.