Open AccessGermline mutation of MDM4 , a major p53 regulator, in a familial syndrome of defective telomere maintenance
Author(s) -
Eléonore Toufektchan,
Vincent Lejour,
Romane Durand,
Neelam Giri,
Irena Drašković,
Boris Bardot,
Pierre Laplante,
Sara Jaber,
Blanche P. Alter,
Arturo LondoñoVallejo,
Sharon A. Savage,
Franck Toledo
Publication year - 2020
Publication title -
science advances
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.928
H-Index - 146
ISSN - 2375-2548
DOI - 10.1126/sciadv.aay3511
Subject(s) - telomere , germline , regulator , mutation , genetics , germline mutation , biology , dna , gene
We demonstrate a direct link between germline p53 activation and telomere dysfunction.
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