trichothiodystrophy syndromes/fotofobija

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Molecular characterization and developmental expression of the TFIIH factor p62 gene from Drosophila melanogaster: effects on the UV light sensitivity of a p62 mutant fly.

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Prijava / prijava

TFIIH is a multiprotein complex that has a central role in the RNA pol II mediated transcription, in DNA repair and in the control of the cell cycle. Mutations in some components of TFIIH are associated with three hereditary human syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and

Increased UV light sensitivity in transgenic Drosophila expressing the antisense XPD homolog.

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The XPD gene is required for excision repair of UV-damaged DNA and is an important component of nucleotide excision repair (NER). Mutations in the XPD gene generate the cancer-prone syndrome xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. XPD is a component of the TFIIH

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

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Prijava / prijava

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities

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Herbal & Natural Medicine

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