Title |
The molecular genetics of the telomere biology disorders
|
---|---|
Published in |
RNA Biology, May 2016
|
DOI | 10.1080/15476286.2015.1094596 |
Pubmed ID | |
Authors |
Alison A. Bertuch |
Abstract |
The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Italy | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 123 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 19 | 15% |
Student > Ph. D. Student | 14 | 11% |
Student > Bachelor | 12 | 10% |
Researcher | 12 | 10% |
Student > Doctoral Student | 7 | 6% |
Other | 22 | 18% |
Unknown | 39 | 31% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 35 | 28% |
Medicine and Dentistry | 23 | 18% |
Agricultural and Biological Sciences | 12 | 10% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 2% |
Chemistry | 2 | 2% |
Other | 4 | 3% |
Unknown | 46 | 37% |