• Mutation; HGNC; HGNC:7230; MRE11; Simple; p.Arg633Ter (c.1897C>T); ClinVar=VCV000008782; Zygosity=Homozygous (PubMed=10612394).
  

PubMed=10612394; DOI=10.1016/S0092-8674(00)81547-0
Grant S. Stewart, Richard S. Maser, Tanja Stankovic, Debra A. Bressan, Mark I. Kaplan, Nicolaas G.J. Jaspers, Anja Raams, Philip J. Byrd, John H.J. Petrini, Alexander Malcolm R. Taylor;
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
Cell 99:577-587(1999)

PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002; PMCID=PMC139882
Timothy P. Heffernan, Dennis A. Simpson, Alexandra R. Frank, Alexandra N. Heinloth, Richard S. Paules, Marila Cordeiro-Stone, William K. Kaufmann;
An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage.
Mol. Cell. Biol. 22:8552-8561(2002)

PubMed=15574327; DOI=10.1016/j.molcel.2004.10.029
Enriqueta Riballo, Martin Kuhne, Nicole Rief, Aidan J. Doherty, Graeme C.M. Smith, Maria-Jose Recio, Caroline Reis, Kirsten Dahm, Andreas Fricke, Andrea Krempler, Antony R. Parker ...Show all 15 authors... , Stephen Philip Jackson, Andrew R. Gennery, Penelope Ann Jeggo, Markus Lobrich; Show fewer authors
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.
Mol. Cell 16:715-724(2004)