Associated Papers
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG et al.
Orphanet Journal of Rare Diseases, 2019
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
Telomerase mutation: a genetic risk factor for cirrhosis.
Chaiteerakij R et al.
Hepatology (baltimore, Md.), 2011
Telomerase gene mutations are associated with cirrhosis formation.
Hartmann D et al.
Hepatology (baltimore, Md.), 2011
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.
Hills M et al.
Annals of the New York Academy of Sciences, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Calado RT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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