Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Cuinat S et al.
European Journal of Human Genetics : Ejhg, 2025
Structural analysis of the basal state of the Artemis:DNA-PKcs complex.
Watanabe G et al.
Nucleic Acids Research, 2022
Feline XRCC4 undergoes rapid Ku-dependent recruitment to DNA damage sites.
Koike M et al.
Febs Open Bio, 2022
Functional analysis of XRCC4 mutations in reported microcephaly and growth defect patients in terms of radiosensitivity.
Asa ADDC et al.
Journal of Radiation Research, 2021
Structural basis of long-range to short-range synaptic transition in NHEJ.
Chen S et al.
Nature, 2021
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N et al.
Human Molecular Genetics, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE et al.
American Journal of Human Genetics, 2015
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