Article
Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood.
International journal of molecular sciences - 26 Oct 2021
Michler Pia, Schedel Anne, Witschas Martha, Friedrich Ulrike Anne, Wagener Rabea, Mehtonen Juha, Brozou Triantafyllia, Menzel Maria, Walter Carolin, Nabi Dalileh, Pearce Glen, Erlacher Miriam, Göhring Gudrun, Dugas Martin, Heinäniemi Merja, Borkhardt Arndt, Stölzel Friedrich, Hauer Julia, Auer Franziska
Abstract excerpt
While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199*) in the shelterin complex gene POT1, which was identified in a child with acute myeloid leukemia. We show that the cells overexpressing the mutated POT1 display...
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