Concepedia

Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants

Masatoshi Takagi, Akihiro Hoshino, Kristine Bousset, Jule Röddecke, Hanna Luisa Martin, Iulia Folcut, Dan Tomomasa, Xi Yang, Junya Kobayashi, Naoki Sakata,

Journal of Clinical Immunology · 2023 · 15 citations · 20 references

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References

20

Genome-wide prediction of disease variant effects with a deep protein language model

Nadav Brandes, Grant Goldman, Charlotte H. Wang et al. · Nature Genetics · 2023 · 441 citations · Full text

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Disruption of <i>mRad50</i> causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation

Guangbin Luo, Michelle S. Yao, Carla F. Bender et al. · Proceedings of the National Academy of Sciences · 1999 · 404 citations · Full text

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Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei et al. · The American Journal of Human Genetics · 2009 · 259 citations · Full text

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Cancer predisposition and hematopoietic failure in <i> Rad50 <sup>S/S</sup> </i> mice

Carla F. Bender, Michael L. Sikes, Ruth Sullivan et al. · Genes & Development · 2002 · 210 citations · Full text

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Autophosphorylation at serine 1987 is dispensable for murine Atm activation in vivo

Manuela Pellegrini, Arkady Celeste, Simone Difilippantonio et al. · Nature · 2006 · 204 citations

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