نتایج جستجو برای: xeroderma pigmentosum

تعداد نتایج: 1731  

Journal: :The EMBO journal 2009
Ulrike Camenisch Daniel Träutlein Flurina C Clement Jia Fei Alfred Leitenstorfer Elisa Ferrando-May Hanspeter Naegeli

Xeroderma pigmentosum group C (XPC) protein initiates the DNA excision repair of helix-distorting base lesions. To understand how this versatile subunit searches for aberrant sites within the vast background of normal genomic DNA, the real-time redistribution of fluorescent fusion constructs was monitored after high-resolution DNA damage induction. Bidirectional truncation analyses disclosed a ...

2013
Kawtar Inani Fatimazahra Mernissi

Le Xeroderma pigmentosum (XP) est une génodermatose rare, fréquente au Maghreb vu le taux élevé de mariage consanguin. Ses manifestations cutanées sont dominées par la fréquence de cancers cutanés. La dermoscopie est une méthode non invasive, qui facilite l'orientation diagnostique et la surveillance de ces malades permettant ainsi de réduire le recours à une chirurgie délabrente en cas de diag...

2014
Katiboina Srinivasa Rao Abialbon Paul Annan Sudarsan Arun Kumar Gurusamy Umamaheswaran Biswajit Dubashi Karunanithi Gunaseelan Steven Aibor Dkhar

Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy popula...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
B J Hwang J M Ford P C Hanawalt G Chu

In human cells, efficient global genomic repair of DNA damage induced by ultraviolet radiation requires the p53 tumor suppressor, but the mechanism has been unclear. The p48 gene is required for expression of an ultraviolet radiation-damaged DNA binding activity and is disrupted by mutations in the subset of xeroderma pigmentosum group E cells that lack this activity. Here, we show that p48 mRN...

Journal: :Journal of Investigative Dermatology 1966

Journal: :Orphanet Journal of Rare Diseases 2017

Journal: :British Journal of Ophthalmology 1963

Journal: :Archiv füur Dermatologie und Syphilis 1900

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