The XPG/ERCC5 endonuclease was originally identified as the causative gene for
Xeroderma Pigmentosum complementation group G. Ever since its discovery, in depth …

Xeroderma pigmentosum group G (XPG) protein is both a functional partner in multiple DNA
damage responses (DDR) and a pathway coordinator and structure-specific endonuclease …

Nucleotide excision repair (NER) is an essential pathway to remove bulky lesions affecting
one strand of DNA. Defects in components of this repair system are at the ground of genetic …

Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by
mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled …

All tumors have DNA mutations, and a predictive understanding of those mutations could
inform clinical treatments. However, 40% of the mutations are variants of unknown …

Mutations in the ERCC5 gene can lead to different clinical phenotypes, few articles have
reported the clinical phenotypes in detail and explained the relationship between genotype …

Xeroderma Pigmentosum (XP) is a rare genetic disorder affecting the nucleotide excision
repair system (NER). It is characterized by an extreme sensitivity to sunlight that induces …

Fetal akinesia and contractures can be caused by mutations in various genes that lead to
overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia …

Until not so long ago, the main area of genetic studies of aggressive behavior was
represented by associative analysis of candidate genes, which were identified according to …

Several syndromic forms of digestive cancers are known to predispose to early-onset gastric
tumors such as Hereditary Diffuse Gastric Cancer (HDGC) and Lynch Syndrome (LS). LSII is …