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 language | English (US) |
|---|---|
| Pages (from-to) | 289-299 |
| Number of pages | 11 |
| Journal | Journal of Cell Biology |
| Volume | 205 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2014 |
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ASJC Scopus subject areas
- Cell Biology
- Medicine(all)
Cite this
Telomeropathies : An emerging spectrum disorder. / Holohan, Brody; Wright, Woodring E.; Shay, Jerry W.
In: Journal of Cell Biology, Vol. 205, No. 3, 2014, p. 289-299.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Telomeropathies
T2 - An emerging spectrum disorder
AU - Holohan, Brody
AU - Wright, Woodring E.
AU - Shay, Jerry W.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84900443034&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84900443034&partnerID=8YFLogxK
U2 - 10.1083/jcb.201401012
DO - 10.1083/jcb.201401012
M3 - Article
C2 - 24821837
AN - SCOPUS:84900443034
VL - 205
SP - 289
EP - 299
JO - Journal of Cell Biology
JF - Journal of Cell Biology
SN - 0021-9525
IS - 3
ER -