ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16134
Abstract: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life‐threatening infections. read more here.
Keywords: siblings severe; mutations two; trichothiodystrophy; two siblings ... See more keywords
Abstract PR18: Somatic ERCC2 mutations, nucleotide excision repair (NER) function, and cisplatin response in muscle-invasive bladder cancer (MIBC)
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DOI: 10.1158/1557-3125.dnarepair16-pr18
Abstract: ERCC2 is a core member of the nucleotide excision repair (NER) pathway, a highly conserved and remarkably versatile DNA repair pathway responsible for repairing intrastrand DNA adducts created by genotoxic agents such as UV irradiation… read more here.
Keywords: mibc; response; cancer; ercc2 mutations ... See more keywords
Expanding gray zones in ERCC2 mutations; a patient with XP phenotype and acute post-infectious leukodystrophy
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Mass Spectrometry"
DOI: 10.32677/ejms.2019.v04.i04.005
Abstract: Mutations in ERCC2, a Nucleotide Excision Repair (NER) gene leads to Xeroderma pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) phenotypes with various severities. While patients undergo XP disease are primarily suffering from skin hypersensitivity… read more here.
Keywords: acute; zones ercc2; expanding gray; leukodystrophy ... See more keywords