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Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer
Published on: April 13, 2015
Cirrhosis caused by RTEL1-Associated Telomeropathy
M de Callataÿ1, E Timmery2, B Delire1
1Department of Hepato-gastroenterology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Abstract:
Telomere biology disorders (TBDs), or telomeropathies, are rare genetic conditions caused by defective telomere maintenance, leading to accelerated telomere shortening, premature cellular senescence, and multi-organ dysfunction(1,3). The clinical spectrum ranges from dyskeratosis congenita to pulmonary fibrosis, bone marrow failure (pancytopenia, leukemia, myelodysplasia), and cirrhosis(2,4). Overall, up to 40% of TBD patients present various hepatic manifestations such as cirrhosis (7%), nodular regenerative hyperplasia and steatohepatitis (5).
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