TERT Promoter Mutations and Telomerase in Melanoma
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Oncology"
DOI: 10.1155/2022/6300329
Abstract: Malignant melanoma is an extremely malignant tumor with a high mortality rate and an increasing incidence with a high mutation load. The frequency of mutations in the TERT promoter exceeds the frequency of any known… read more here.
Keywords: promoter; melanoma; tert promoter; promoter mutations ... See more keywords
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Investigation"
DOI: 10.1172/jci91161
Abstract: Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs.… read more here.
Keywords: mutations telomerase; function mutations; promoter mutations; loss function ... See more keywords