نتایج جستجو برای: xeroderma pigmentosum

تعداد نتایج: 1731  

Journal: :Indian Journal of Dermatology, Venereology and Leprology 2007

Forozan Mohammadi, Mohammad Rakhshan, Mohammad reza Jalali Nodoshan, Parvaneh Vesal,

 SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...

Journal: :Current opinion in genetics & development 1997
N A Ellis

Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA ma...

Journal: :Indian Journal of Paediatric Dermatology 2019

Journal: :Nucleic acids research 1998
T Kobayashi S Takeuchi M Saijo Y Nakatsu H Morioka E Otsuka M Wakasugi O Nikaido K Tanaka

To analyze the function of the xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair, we examined repair of UV-induced cyclobutane pyrimidine dimer (CPD) in transcribed and non-transcribed strands of the dihydrofolate reductase gene of xeroderma pigmentosum group A (XP-A) cell line (XP12ROSV) which was transfected with various types of mutant XPA cDNA. The transfectant overe...

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