Article
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Human molecular genetics - 20 Mar 2024
Bertrand Alexis, Ba Ibrahima, Kermasson Laëtitia, Pirabakaran Vithura, Chable Noémie, Lainey Elodie, Ménard Christelle, Kallel Faten, Picard Capucine, Hadiji Sondes, Coolen-Allou Nathalie, Blanchard Elodie, de Villartay Jean-Pierre, Moshous Despina, Roelens Marie, Callebaut Isabelle, Kannengiesser Caroline, Revy Patrick
Abstract excerpt
Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of telomeres. Germline defects that lead to short and/or dysfunctional telomeres cause telomere biology disorders (TBDs), a group of rare and heterogeneous Mendelian diseases including pulmonary fibrosis, dyskeratosis congenita, and...
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