We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth, they both presented with bilateral cryptorchidism and malformations. Since early adulthood, they developed a slowly progressive neurological syndrome, with cerebellar and pyramidal signs, cognitive impairment, and depression. Dilating cardiomyopathy is also present in both. By whole-exome sequencing, we found a homozygous nucleotide change in XRCC4 (c.673C>T), predicted to introduce a premature stop codon (p.R225*). XRCC4 transcript levels were profoundly reduced, and the protein was undetectable in patients' skin fibroblasts. XRCC4 plays an important role in non-homologous end joining of DNA double-strand breaks (DSB), a system that is inv...
DNA double-strand breaks pose a significant threat to cell survival and must be repaired. In higher ...
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-dist...
SummaryDNA nonhomologous end-joining (NHEJ) is a predominant pathway of DNA double-strand break repa...
We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth...
DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give ...
Background Nonhomologous end-joining (NHEJ) is the major DNA double-strand break (DSB) repair mec...
Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in ...
AbstractXRCC4 was identified via a complementation cloning method that employed an ionizing radiatio...
Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in ...
We reevaluated a previously reported family with an X-linked mental retardation syndrome and attempt...
When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutatio...
Ionizing radiation produces a variety of lesions in DNA including single-strand breaks, double stran...
International audienceWe developed an Xrcc4 M61R separation of function mouse line to overcome the e...
Defective responses to DNA single strand breaks underlie various neurodegenerative diseases. However...
From Springer Nature via Jisc Publications RouterHistory: received 2021-03-04, accepted 2021-06-14, ...
DNA double-strand breaks pose a significant threat to cell survival and must be repaired. In higher ...
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-dist...
SummaryDNA nonhomologous end-joining (NHEJ) is a predominant pathway of DNA double-strand break repa...
We studied two monozygotic twins, born to first cousins, affected by a multisystem disease. At birth...
DNA double-strand breaks (DSBs) are highly toxic lesions, which, if not properly repaired, can give ...
Background Nonhomologous end-joining (NHEJ) is the major DNA double-strand break (DSB) repair mec...
Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in ...
AbstractXRCC4 was identified via a complementation cloning method that employed an ionizing radiatio...
Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in ...
We reevaluated a previously reported family with an X-linked mental retardation syndrome and attempt...
When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutatio...
Ionizing radiation produces a variety of lesions in DNA including single-strand breaks, double stran...
International audienceWe developed an Xrcc4 M61R separation of function mouse line to overcome the e...
Defective responses to DNA single strand breaks underlie various neurodegenerative diseases. However...
From Springer Nature via Jisc Publications RouterHistory: received 2021-03-04, accepted 2021-06-14, ...
DNA double-strand breaks pose a significant threat to cell survival and must be repaired. In higher ...
Nucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-dist...
SummaryDNA nonhomologous end-joining (NHEJ) is a predominant pathway of DNA double-strand break repa...