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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

PT Bradford, AM Goldstein, D Tamura… - Journal of medical …, 2011 - jmg.bmj.com
Results In the 65 per cent (n=69) of patients with skin cancer, non-melanoma skin cancer
(NMSC) was increased 10 000-fold and melanoma was increased 2000-fold in patients under
age 20. The 9 year median age at diagnosis of first non-melanoma skin cancer (NMSC) ...
Cited by 4 - Related articles - All 4 versions

Xeroderma pigmentosum variant: Complementary molecular approaches to detect a 13 base pair deletion in the DNA polymerase eta gene.

P Hentosh, T Benjamin, L Hall, S Leap… - Experimental and …, 2011 - ncbi.nlm.nih.gov
Deficiencies of DNA polymerase eta-an enzyme mediating replication past UV-induced DNA
damage-predispose individuals to xeroderma pigmentosum variant (XPV) and result in a high
incidence of skin cancers. We designed, developed and assessed several ...

Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA

M Saijo, A Takedachi… - Journal of Biological Chemistry, 2011 - ASBMB
The xeroderma pigmentosum group A protein (XPA) is a core component of nucleotide excision
repair (NER). To coordinate early stage NER, XPA interacts with various proteins, including replication
protein A (RPA), ERCC1, DDB2, and TFIIH, in addition to UV-damaged or chemical ...
Related articles - All 4 versions

Ocular Manifestations of Xeroderma Pigmentosum at a Tertiary Eye Care Center in Saudi Arabia

AM Alfawaz… - Ophthalmic Plastic & …, 2011 - journals.lww.com
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Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

HL Ramkumar, BP Brooks, X Cao, D Tamura… - Survey of …, 2011 - Elsevier
Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA
repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun
sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some ...
Related articles - All 3 versions

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