Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
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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
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
39307879 (PubMed )
Supplement: 41392_2024_1960_MOESM6_ESM.xlsx › Table_S5
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
38948361 (PubMed )
Supplement: Table2.XLSX › Sheet1
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
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
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.
Saito S et al.
Journal of Human Genetics, 2016
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
Bee L et al.
Embo Molecular Medicine, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray JE et al.
American Journal of Human Genetics, 2015
NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS.
Fredette ME et al.
Aace Clinical Case Reports, 0
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