Article
The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
PLoS genetics - 1 Jul 2015
Frank Amanda K, Tran Duy C, Qu Roy W, Stohr Bradley A, Segal David J, Xu Lifeng
Abstract excerpt
Dyskeratosis Congenita (DC) is a heritable multi-system disorder caused by abnormally short telomeres. Clinically diagnosed by the mucocutaneous symptoms, DC patients are at high risk for bone marrow failure, pulmonary fibrosis, and multiple types of cancers. We have recapitulated the most common DC-causing mutation in the shelterin component TIN2 by introducing a TIN2-R282H mutation into cultured...
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