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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

Archive ouverte | Arseni, Lavinia | CCSD

International audience. Significance Despite exhibiting different phenotypes, the UV-sensitive syndromes trichothiodystrophy (TTD) and xeroderma pigmentosum (XP) result from the same mutated genes encoding specific ...

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Archive ouverte | Nardo, Tiziana | CCSD

International audience. UV-sensitive syndrome (UV S S) is a recently-identified autosomal recessive disorder characterized by mild cutaneous symptoms and defective transcription-coupled repair (TC-NER), the subpathw...

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Archive ouverte | Giglia-Mari, P | CCSD

International audience. DNA repair-deficient trichothiodystrophy (TTD) results from mutations in the XPD and XPB subunits of the DNA repair and transcription factor TFIIH. In a third form of DNA repair-deficient TTD...

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