Mentioned in ?
References in periodicals archive ?
Xeroderma pigmentosum group F caused by a defect in a structurespecific DNA repair endonuclease.
Bloom syndrome, Rothmund-Thomson syndrome, xeroderma pigmentosum, etc.
One attendee asked about the cost of clothes and equipment for the protection of children affected with Xeroderma pigmentosum ("moon children").
They said Xeroderma pigmentosum is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient, they added.
61 Abbreviations: ATM, ataxia telangiectasia-mutated; FANCC, Fanconi anemia complementation group C; UBC13, ubiquitin-conjugating enzyme 13; XPG, Xeroderma pigmentosum complementation group G; XRCC3, X-ray repair complementing defective repair in Chinese hamster cells 3.
Topics covered include clinical features of Cockayne and related syndromes, the molecular basis and molecular diagnosis of CS transcription-coupled repair, CS Group B protein and chromatin structure, cell signaling, cell cycle defects and apoptosis in CS, and overlap with xeroderma pigmentosum and other progeroid syndromes.
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair.
Both CYP1A1 and CYP1B1 are expressed in normal human skin and are further induced by UVB light [60] while it has been suggested from mouse studies that a decline in CYP1A1 in xeroderma pigmentosum (XP) accounts for a decrease in ATRA synthesis in XP [61].
Faulty DNA replication and repair can lead to severe human diseases such as xeroderma pigmentosum (XP), a disorder characterized by extreme photosensitivity and a greater than 1000-fold increased risk of cutaneous and ocular neoplasms.
Farzana, seven, from Barry, who suffers from Xeroderma Pigmentosum, a rare genetic condition which gives her increased sensitivity to sunlight, had her dream turned into a reality by the charity Make-A-Wish Foundation UK.
Dale's loss of hearing is just one of the problems related to Xeroderma Pigmentosum (XP), the condition from which both he and his older sister, Saicha, 14, suffer.

Full browser ?