期刊
JOURNAL OF CELL BIOLOGY
卷 205, 期 3, 页码 289-299出版社
ROCKEFELLER UNIV PRESS
DOI: 10.1083/jcb.201401012
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资金
- NASA [NNX I 1AC15G, NNJ05HD36G, NNX09AU95G]
- National Cancer Institute (SPORE) [P50CA70907, CA154805]
- Simmons Cancer Center Support grant [5P30 CA142543]
- Southland Financial Corporation Distinguished Chair in Geriatric Research
- National Institutes of Health grant [C06 RR30414]
- Simmons Cancer Center
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.
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