Details

Autor(en) / Beteiligte

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

Titel

Telomeropathies: An emerging spectrum disorder

Ist Teil von

• The Journal of cell biology, 2014-05, Vol.205 (3), p.289-299

Ort / Verlag

New York: Rockefeller University Press

Erscheinungsjahr

2014

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.