Disease anticipation is associated with progressiv...[Nat Genet. 2004]

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1: Nat Genet. 2004 May;36(5):447-9. Epub 2004 Apr 18. Links

Comment in:: Nat Genet. 2004 May;36(5):437-8.

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.

Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London W12 ONN, UK.

Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.

PMID: 15098033 [PubMed - indexed for MEDLINE]

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. [Proc Natl Acad Sci U S A. 2005]
The effect of TERC haploinsufficiency on the inheritance of telomere length. [Proc Natl Acad Sci U S A. 2005]
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. [Nature. 2001]
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. [Biochimie. 2008]
Dyskeratosis congenita: telomerase, telomeres and anticipation. [Curr Opin Genet Dev. 2005]
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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

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