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Articles 158611 - 158611 of 158611
Full-Text Articles in Entire DC Network
Liver Disease And Transplantation In Telomere Biology Disorders: An International Multicenter Cohort, Sharon A Savage, Alison A Bertuch
Liver Disease And Transplantation In Telomere Biology Disorders: An International Multicenter Cohort, Sharon A Savage, Alison A Bertuch
Faculty, Staff and Students Publications
Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin …