BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 21209122)

  • 21. Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
    Wang P; Xu Z
    BMC Pulm Med; 2021 Sep; 21(1):279. PubMed ID: 34479523
    [TBL] [Abstract][Full Text] [Related]  

  • 22.
    Kocheva SA; Gjorgjievska M; Martinova K; Antevska-Trajkova Z; Jovanovska A; Plaseska-Karanfilska D
    Balkan J Med Genet; 2021 Nov; 24(2):89-93. PubMed ID: 36249522
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    Koivuluoma S; Vorimo S; Mattila TM; Tervasmäki A; Kumpula T; Kuismin O; Winqvist R; Moilanen J; Mantere T; Pylkäs K
    Fam Cancer; 2023 Jan; 22(1):13-17. PubMed ID: 35590014
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
    Vulliamy TJ; Kirwan MJ; Beswick R; Hossain U; Baqai C; Ratcliffe A; Marsh J; Walne A; Dokal I
    PLoS One; 2011; 6(9):e24383. PubMed ID: 21931702
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Dyskeratosis congenita: an update].
    Mialou V; Leblanc T; Peffault de Latour R; Dalle JH; Socié G
    Arch Pediatr; 2013 Mar; 20(3):299-306. PubMed ID: 23352883
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Dyskeratosis congenita: telomerase, telomeres and anticipation.
    Marrone A; Walne A; Dokal I
    Curr Opin Genet Dev; 2005 Jun; 15(3):249-57. PubMed ID: 15917199
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Dyskeratosis congenita, stem cells and telomeres.
    Kirwan M; Dokal I
    Biochim Biophys Acta; 2009 Apr; 1792(4):371-9. PubMed ID: 19419704
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
    Ballew BJ; Yeager M; Jacobs K; Giri N; Boland J; Burdett L; Alter BP; Savage SA
    Hum Genet; 2013 Apr; 132(4):473-80. PubMed ID: 23329068
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
    Nelson ND; Dodson LM; Escudero L; Sukumar AT; Williams CL; Mihalek I; Baldan A; Baird DM; Bertuch AA
    Mol Cell Biol; 2018 Jun; 38(12):. PubMed ID: 29581185
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
    Kirwan M; Beswick R; Vulliamy T; Nathwani AC; Walne AJ; Casimir C; Dokal I
    Br J Haematol; 2009 Mar; 144(5):771-81. PubMed ID: 19036115
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
    Vulliamy TJ; Knight SW; Mason PJ; Dokal I
    Blood Cells Mol Dis; 2001; 27(2):353-7. PubMed ID: 11259155
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A Truncating Germline Mutation of
    He H; Li W; Comiskey DF; Liyanarachchi S; Nieminen TT; Wang Y; DeLap KE; Brock P; de la Chapelle A
    Thyroid; 2020 Feb; 30(2):204-213. PubMed ID: 31928178
    [No Abstract]   [Full Text] [Related]  

  • 33. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
    Sasa GS; Ribes-Zamora A; Nelson ND; Bertuch AA
    Clin Genet; 2012 May; 81(5):470-8. PubMed ID: 21477109
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
    Balakumaran A; Mishra PJ; Pawelczyk E; Yoshizawa S; Sworder BJ; Cherman N; Kuznetsov SA; Bianco P; Giri N; Savage SA; Merlino G; Dumitriu B; Dunbar CE; Young NS; Alter BP; Robey PG
    Blood; 2015 Jan; 125(5):793-802. PubMed ID: 25499762
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association.
    Erdem M; Tüfekçi Ö; Yılmaz Ş; Alacacıoğlu İ; Ören H
    Acta Haematol; 2019; 141(1):28-31. PubMed ID: 30472699
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Dyskeratosis congenita associated with leukoplakia of the tongue.
    Noto Z; Tomihara K; Furukawa K; Noguchi M
    Int J Oral Maxillofac Surg; 2016 Jun; 45(6):760-3. PubMed ID: 26778687
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The shelterin complex and hematopoiesis.
    Jones M; Bisht K; Savage SA; Nandakumar J; Keegan CE; Maillard I
    J Clin Invest; 2016 May; 126(5):1621-9. PubMed ID: 27135879
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.
    Du H; Guo Y; Ma D; Tang K; Cai D; Luo Y; Xie C
    Medicine (Baltimore); 2018 May; 97(19):e0724. PubMed ID: 29742735
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
    Vulliamy TJ; Walne A; Baskaradas A; Mason PJ; Marrone A; Dokal I
    Blood Cells Mol Dis; 2005; 34(3):257-63. PubMed ID: 15885610
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 12.