Xeroderma pigmentosum. Case presentation. by Damaris Díaz Leonard, Arelis Herrera Alonso, Magdalena Vigera Fajardo

“…At the age of 6 it was assessed as xeroderma pigmentosum. This diagnosis was confirmed at the age of 10 by the histopathology department and reassessed by the National Reference Centre. …”
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Xeroderma Pigmentosum: Man Deprived of His Right to Light by Subhash Mareddy, Jithendra Reddy, Subhas Babu, Preethi Balan

“…Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. …”
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Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum by Judith Beatriz Pupo Balboa, Mónica Marín García, Anamarys Pandolfi Blanco, Lucía Fariñas Rodríguez, Paulina Araceli Lantigua Cruz

“…<strong>Foundation:</strong> skin cancer is a complication of xeroderma pigmentosum; early diagnosis is important. The alkaline comet assay with ultraviolet C radiation and the western blot assay are useful for diagnosis. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. …”
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DNA Replication Arrest and P53-Dependent and P53-Independent Cell Death Pathways in Xeroderma Pigmentosum Variant Cells by James E. Cleaver, Eileen Crowley, Mohammed Kashani-Sabet, Charles L. Limoli

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Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effe... by Mohammad Moslem Imani, Ali Ashabi, Farzad Rezaei, Atefe Saffar Shahroudi, Sadegh Kashkouli, Edris Sadeghi, Masoud Sadeghi

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DNA Damage Induced by Alkylating Agents and Repair Pathways by Natsuko Kondo, Akihisa Takahashi, Koji Ono, Takeo Ohnishi

“…., endnuclease xeroderma pigmentosum complementation group F-excision repair cross-complementing rodent repair deficiency complementation group 1), Fanconi anemia repair, and homologous recombination. …”
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Lung Cancer Risk and Genetic Polymorphisms in DNA Repair Pathways: A Meta-Analysis by Chikako Kiyohara, Koichi Takayama, Yoichi Nakanishi

“…We conducted a meta-analysis of epidemiologic studies on the association between genetic polymorphisms in both base excision repair and nucleotide excision repair pathways, and lung cancer. We found xeroderma pigmentosum complementation group A (XPA) G23A (odds ratio (OR) =0.76, 95% confidence interval (CI) =0.61–0.94), 8-oxoguanine DNA glycosylase 1 (OGG1) Ser326Cys (OR=1.22, 95% CI=1.02–1.45), and excision repair cross-complementing group 2 (ERCC2) Lys751Gln (OR=1.27, 95% CI=1.10–1.46) polymorphisms were associated with lung cancer risk. …”
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