Concepedia

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly

Yoshiyuki Matsumoto, Tatsuo Miyamoto, Hiromi Sakamoto, Hideki Izumi, Yuka Nakazawa, Tomoo Ogi, Hidetoshi Tahara, Shozo Oku, Azuma Hiramoto, Toshihide Shiiki,

DNA repair · 2011 · 60 citations · 18 references

DOI

Concepts

References

18

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

Christopher J. Bakkenist, Michael B. Kastan · Nature · 2003 · 3.4K citations

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The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage Response

James P. Carney, Richard S. Maser, Heidi Olivares et al. · Cell · 1998 · 1.2K citations · Full text

, , +17

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer et al. · Cell · 1998 · 1.1K citations · Full text

, , +10

The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

Grant S. Stewart, Richard S. Maser, Debra A. Bressan et al. · Cell · 1999 · 1.1K citations · Full text

, , +12

Requirement of the MRN complex for ATM activation by DNA damage

Tamar Uziel, Yaniv Lerenthal, Lilach Moyal et al. · The EMBO Journal · 2003 · 1.1K citations · Full text

, , +14