Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

Autor: Franziska Auer, Dalileh Nabi, Glen Pearce, Friedrich Stölzel, Gudrun Göhring, Maria Menzel, Rabea Wagener, Julia Hauer, Triantafyllia Brozou, Carolin Walter, Arndt Borkhardt, Ulrike Anne Friedrich, Miriam Erlacher, Juha Mehtonen, Martha Witschas, Pia Michler, Anne Schedel, Merja Heinäniemi, Martin Dugas

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 21
International Journal of Molecular Sciences, Vol 22, Iss 11572, p 11572 (2021)

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bd04f7d602f493299bf4b534c86036
https://pubmed.ncbi.nlm.nih.gov/34769003