Telomeropathies: An emerging spectrum disorder

Brody Holohan, Woodring E. Wright, Jerry W. Shay

Research output: Contribution to journalReview article

98 Scopus citations

Abstract

A constellation of related genetic diseases are caused by defects in the telomere maintenance machinery. These disorders, often referred to as telomeropathies, share symptoms and molecular mechanisms, and mounting evidence indicates they are points along a spectrum of disease. Several new causes of these disorders have been recently discovered, and a number of related syndromes may be unrecognized telomeropathies. Progress in the clinical understanding of telomeropathies has in turn driven progress in the basic science of telomere biology. In addition, the pattern of genetic anticipation in some telomeropathies generates thought-provoking questions about the way telomere length impacts the course of these diseases.

Original languageEnglish (US)
Pages (from-to)289-299
Number of pages11
JournalJournal of Cell Biology
Volume205
Issue number3
DOIs
StatePublished - 2014

ASJC Scopus subject areas

  • Cell Biology

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