Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

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 i...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583981/
https://www.ncbi.nlm.nih.gov/pubmed/34769003
http://dx.doi.org/10.3390/ijms222111572

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