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Results 1 - 7 of 7 for Telomere syndrome
  1. CTC1 gene 
    ... LY, Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013 Oct 1;27(19):2099-108. doi: 10.1101/gad.222893.113. Citation on PubMed or Free ... the pathogenesis of the telomere disease Coats plus. Aging Cell. 2013 Dec;12( ...
    https://medlineplus.gov/genetics/gene/ctc1 - Genetics
  2. TERC gene 
    ... TERC PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2; PFBMFT2 NCBI Gene ClinVar Arish N, ... or Free article on PubMed Central Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet. 2009;10: ...
    https://medlineplus.gov/genetics/gene/terc - Genetics
  3. WRN gene 
    ... for maintaining DNA at the ends of chromosomes (telomeres). More than 60 mutations in the WRN gene are known to cause Werner syndrome. Most of these mutations result in an abnormally ...
    https://medlineplus.gov/genetics/gene/wrn - Genetics
  4. USB1 gene 
    ... Dokal I. Mutations in C16orf57 and normal-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): ...
    https://medlineplus.gov/genetics/gene/usb1 - Genetics
  5. TINF2 gene 
    ... Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. ...
    https://medlineplus.gov/genetics/gene/tinf2 - Genetics
  6. NBN gene 
    ... Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. 1999 May 17 ... repair, telomere stability, and cell cycle checkpoint control. Cell Res. ...
    https://medlineplus.gov/genetics/gene/nbn - Genetics
  7. TERT gene 
    ... an enzyme called telomerase. Telomerase maintains structures called telomeres, which are composed of repeated segments of DNA found at the ends of chromosomes. Telomeres protect chromosomes from abnormally sticking together or breaking ...
    https://medlineplus.gov/genetics/gene/tert - Genetics