共查询到20条相似文献,搜索用时 31 毫秒
1.
2.
3.
4.
Disruption of TTDA Results in Complete Nucleotide Excision Repair Deficiency and Embryonic Lethality
Arjan F. Theil Julie Nonnekens Barbara Steurer Pierre-Olivier Mari Jan de Wit Charlène Lemaitre Jurgen A. Marteijn Anja Raams Alex Maas Marcel Vermeij Jeroen Essers Jan H. J. Hoeijmakers Giuseppina Giglia-Mari Wim Vermeulen 《PLoS genetics》2013,9(4)
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
The 14th Datta Lecture. TFIIH: from transcription to clinic. 总被引:1,自引:0,他引:1
J M Egly 《FEBS letters》2001,498(2-3):124-128
18.
Nucleotide excision repair (NER) is the most versatile and best studied DNA repair system in humans. NER can repair a variety of bulky DNA damages including UV-light induced DNA photoproducts. NER consists of a multistep process in which the DNA lesion is recognized and demarcated by DNA unwinding. Then, a ~28 bp DNA damage containing oligonucleotide is excised followed by gap filling using the undamaged DNA strand as a template. The consequences of defective NER are demonstrated by three rare autosomal-rezessive NER-defective syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). XP patients show severe sun sensitivity, freckling in sun exposed skin, and develop skin cancers already during childhood. CS patients exhibit sun sensitivity, severe neurologic abnormalities, and cachectic dwarfism. Clinical symptoms of TTD patients include sun sensitivity, freckling in sun exposed skin areas, and brittle sulfur-deficient hair. In contrast to XP patients, CS and TTD patients are not skin cancer prone. Studying these syndromes can increase the knowledge of skin cancer development including cutaneous melanoma as well as basal and squamous cell carcinoma in general that may lead to new preventional and therapeutic anticancer strategies in the normal population. 相似文献