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    Multiple skin cancers in patients with mycosis fungoides after long-term ultraviolet phototherapy.
    Clin Exp Dermatol 2017 May 22. Epub 2017 May 22.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Phototherapy is a useful noninvasive therapy, but it can induce cutaneous malignant tumours, including squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). We report on a 79-year-old man who had long-standing mycosis fungoides for 40 years, which had been treated with psoralen ultraviolet A therapy for 37 years at a dose of approximately 5000 J/cm(2) . Approximately 6 years before presentation, numerous types of cutaneous malignancies, including actinic keratosis, BCC and SCC, had begun to develop all over the patient's body. Read More

    XPC Polymorphism and Risk for Lung Cancer in North Indian Patients Treated with Platinum Based Chemotherapy and Its Association with Clinical Outcomes.
    Pathol Oncol Res 2017 May 24. Epub 2017 May 24.
    Department of Biotechnology, Thapar University, Punjab, 147002, India.
    Xeroderma pigmentosum complementation group C plays an important role in the human repair system. As reported in previous studies its polymorphism are associated with lung cancer susceptibility. The purpose of this study is to investigate the association of XPC gene with lung cancer susceptibility, overall response and clinical outcomes amongst North Indians. Read More

    CXCL1 inhibition regulates UVB-induced skin inflammation and tumorigenesis in Xpa-deficient mice.
    J Invest Dermatol 2017 May 17. Epub 2017 May 17.
    Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan. Electronic address:
    Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those of wild-type mice. Read More

    The age-related expression decline of ERCC1 and XPF for forensic age estimation: A preliminary study.
    J Forensic Leg Med 2017 May 3;49:15-19. Epub 2017 May 3.
    Department of Forensic Medicine, North Sichuan Medical College, Nanchong, Sichuan 637000, PR China. Electronic address:
    The age-related capacity decline of DNA damage repair in human peripheral blood has been demonstrated. Excision repair cross-complementation group1 (ERCC1) and Xeroderma pigmentosum complementation group F (XPF) were rate-limiting enzyme in nucleotide excision repair (NER) which was known as the most important DNA damage repair system. Consequently, we hypothesized that the expression and/or activity of ERCC1 and XPF may be associated with age. Read More

    Subcellular distribution of RAD23B controls XPC degradation and DNA damage repair in response to chemotherapy drugs.
    Cell Signal 2017 May 1;36:108-116. Epub 2017 May 1.
    CAS Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China; School of Life Sciences and Technology, Shanghai Tech University, Shanghai 200031, China. Electronic address:
    The RAD23B-XPC complex in the nucleus plays a key role in the initial damage recognition during global genome nucleotide excision repair (NER). Within the complex, XPC, a product of Xeroderma pigmentosum C, recognizes and interacts with the unpaired bases in the undamaged DNA strand, while RAD23B stabilizes XPC. However, how RAD23B is regulated by other factors is not well known. Read More

    New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome.
    Leuk Res 2017 Apr 1;58:73-82. Epub 2017 Apr 1.
    Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara,Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Brazil. Electronic address:
    The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 samples stratified in two groups: 95 bone marrow samples from MDS patients and 94 from healthy elderly volunteers used as controls. Genotypes for all polymorphisms were identified in DNA samples in an allelic discrimination experiment by real-time polymerase chain reaction (qPCR). Read More

    Nucleotide Excision Repair Lesion-Recognition Protein Rad4 Captures a Pre-Flipped Partner Base in a Benzo[a]pyrene-Derived DNA Lesion: How Structure Impacts the Binding Pathway.
    Chem Res Toxicol 2017 May 15. Epub 2017 May 15.
    NYU-ECNU Center for Computational Chemistry at NYU Shanghai , Shanghai 200062, China.
    The xeroderma pigmentosum C protein complex (XPC) recognizes a variety of environmentally induced DNA lesions and is the key in initiating their repair by the nucleotide excision repair (NER) pathway. When bound to a lesion, XPC flips two nucleotide pairs that include the lesion out of the DNA duplex, yielding a productively bound complex that can lead to successful lesion excision. Interestingly, the efficiencies of NER vary greatly among different lesions, influencing their toxicity and mutagenicity in cells. Read More

    Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.
    J Neurol Sci 2017 May 16;376:198-201. Epub 2017 Mar 16.
    Department of Neurology, Strasbourg University Hospital, Strasbourg, France; FMTS, Medecine Faculty, Strasbourg, France.
    The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Read More

    A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.
    Int J Cancer 2017 Jul 8;141(2):342-353. Epub 2017 May 8.
    Department of Surgical & Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA.
    Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome-wide association study (N = 23) identified a 1. Read More

    Alert Regarding Cisplatin-induced Severe Adverse Events in Cancer Patients with Xeroderma Pigmentosum.
    Intern Med 2017 15;56(8):979-982. Epub 2017 Apr 15.
    Second Department of Internal Medicine, Nagasaki University School of Medicine, Japan.
    Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that treatment with CDDP may cause enhanced adverse events as well as anti-tumor activity in cancer patients with XP. Read More

    XPG gene polymorphisms and cancer susceptibility: evidence from 47 studies.
    Oncotarget 2017 Mar 13. Epub 2017 Mar 13.
    Department of Pharmacy, The First Affiliated Hospital of Jinan University, Guangzhou 510630, Guangdong, China.
    Xeroderma pigmentosum group G (XPG) is a single-strand-specific DNA endonuclease that functions in the nucleotide excision repair pathway. Genetic variations in XPG gene can alter the DNA repair capacity of this enzyme. We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. Read More

    [Light protection for xeroderma pigmentosum].
    Hautarzt 2017 May;68(5):359-363
    Universitätsklinik für Dermatologie, Franz-Josef-Strauß Allee 11, 93053, Regensburg, Deutschland.
    Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. Read More

    Conjunctival Tumors: Review of Clinical Features, Risks, Biomarkers, and Outcomes--The 2017 J. Donald M. Gass Lecture.
    Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):109-120
    Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA.
    Conjunctival tumors encompass a broad range of diagnoses. The 3 most important malignant tumors include ocular surface squamous neoplasia (OSSN) (14%), melanoma (12%), and lymphoma (7%). Conjunctival malignancies are rarely found in children. Read More

    Xeroderma pigmentosum-Cockayne syndrome complex.
    Orphanet J Rare Dis 2017 Apr 4;12(1):65. Epub 2017 Apr 4.
    Forgotten Diseases Research Foundation, Santa Clara, CA, 95050, USA.
    Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical description of the syndrome. Read More

    NEIL1 protects against aflatoxin-induced hepatocellular carcinoma in mice.
    Proc Natl Acad Sci U S A 2017 Apr 3;114(16):4207-4212. Epub 2017 Apr 3.
    Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, Portland, OR 97239;
    Global distribution of hepatocellular carcinomas (HCCs) is dominated by its incidence in developing countries, accounting for >700,000 estimated deaths per year, with dietary exposures to aflatoxin (AFB1) and subsequent DNA adduct formation being a significant driver. Genetic variants that increase individual susceptibility to AFB1-induced HCCs are poorly understood. Herein, it is shown that the DNA base excision repair (BER) enzyme, DNA glycosylase NEIL1, efficiently recognizes and excises the highly mutagenic imidazole ring-opened AFB1-deoxyguanosine adduct (AFB1-Fapy-dG). Read More

    Facile preparation of a fluorescent probe to detect the cellular ability of nucleotide excision repair.
    Anal Biochem 2017 Jun 30;526:71-74. Epub 2017 Mar 30.
    Division of Chemistry, Graduate School of Engineering Science, Osaka University, Toyonaka, Osaka 560-8531, Japan. Electronic address:
    We previously developed a method to detect the cellular ability of nucleotide excision repair, which functions to remove UV-induced lesions in DNA, using a plasmid-type fluorescent probe. A drawback to the popular use of this method was that the oligonucleotide containing the (6-4) photoproduct, which was used as a primer in the plasmid preparation, must be synthesized chemically. In this study, we prepared the probe using a post-synthetically UV-irradiated oligonucleotide as the primer. Read More

    Control of structure-specific endonucleases to maintain genome stability.
    Nat Rev Mol Cell Biol 2017 05 22;18(5):315-330. Epub 2017 Mar 22.
    Centre de Recherche en Cancérologie de Marseille, CRCM, CNRS, Aix Marseille Université, INSERM, Institut Paoli-Calmettes, 27 Boulevard Leï Roure, 13009 Marseille, France.
    Structure-specific endonucleases (SSEs) have key roles in DNA replication, recombination and repair, and emerging roles in transcription. These enzymes have specificity for DNA secondary structure rather than for sequence, and therefore their activity must be precisely controlled to ensure genome stability. In this Review, we discuss how SSEs are controlled as part of genome maintenance pathways in eukaryotes, with an emphasis on the elaborate mechanisms that regulate the members of the major SSE families - including the xeroderma pigmentosum group F-complementing protein (XPF) and MMS and UV-sensitive protein 81 (MUS81)-dependent nucleases, and the flap endonuclease 1 (FEN1), XPG and XPG-like endonuclease 1 (GEN1) enzymes - during processes such as DNA adduct repair, Holliday junction processing and replication stress. Read More

    XPG genetic polymorphisms and clinical outcome of patients with advanced non-small cell lung cancer under platinum-based treatment: a meta-analysis of 12 studies.
    Cancer Chemother Pharmacol 2017 Apr 17;79(4):791-800. Epub 2017 Mar 17.
    Department of Respiratory Diseases, The First Affiliated Hospital of Nanchang University, Nanchang, China.
    Purpose: A number of studies on the relationship between xeroderma pigmentosum group G (XPG) polymorphisms and clinical outcomes in non-small cell cancer (NSCLC) have led to inconclusive results. This meta-analysis evaluates the predictive value of XPG polymorphisms on the treatment response rate and overall survival of patients with NSCLC.

    Methods: To measure the correlative strength of the relationship between XPG polymorphisms and outcomes of patients with NSCLC, we searched electronic databases, including PubMed and China National Knowledge Infrastructure, to retrieve studies up to August 2016. Read More

    Vismodegib Therapy for Basal Cell Carcinoma in an 8-Year-Old Chinese Boy with Xeroderma Pigmentosum.
    Pediatr Dermatol 2017 Mar;34(2):163-165
    Nellis Air Force Base, Mike O'Callaghan Federal Medical Center, Las Vegas, Nevada.
    Vismodegib is an oral inhibitor of the Hedgehog signaling pathway and has been used to treat basal cell carcinoma (BCC) in adults. This article reports clearance of a nodular BCC of the nasal tip in an 8-year-old boy with xeroderma pigmentosum (XP). BCC can pose therapeutic challenges when located in areas that are not amenable to traditional therapies such as Mohs micrographic surgery or topical agents. Read More

    Lack of XPC leads to a shift between respiratory complexes I and II but sensitizes cells to mitochondrial stress.
    Sci Rep 2017 Dec 13;7(1):155. Epub 2017 Mar 13.
    Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
    Genomic instability drives tumorigenesis and DNA repair defects are associated with elevated cancer. Metabolic alterations are also observed during tumorigenesis, although a causal relationship between these has not been clearly established. Xeroderma pigmentosum (XP) is a DNA repair disease characterized by early cancer. Read More

    Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.
    Case Rep Med 2017 1;2017:7162737. Epub 2017 Feb 1.
    Unidad de Genetica Médica, Facultad de Medicina, Universidad de Antioquia, Carrera 51D 62-29, Medellín, Colombia.
    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. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Read More

    Hearing Dysfunction in Xpa-Deficient Mice.
    Front Aging Neurosci 2017 10;9:19. Epub 2017 Feb 10.
    Department of Otolaryngology-Head and Neck Surgery, Kobe University Graduate School of Medicine Kobe, Japan.
    Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. Read More

    ARID2 modulates DNA damage response in human hepatocellular carcinoma cells.
    J Hepatol 2017 May 24;66(5):942-951. Epub 2017 Feb 24.
    Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan; Department of Hepato-Biliary-Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address:
    Background & Aims: Recent genomic studies have identified frequent mutations of AT-rich interactive domain 2 (ARID2) in hepatocellular carcinoma (HCC), but it is not still understood how ARID2 exhibits tumor suppressor activities.

    Methods: We established the ARID2 knockout human HCC cell lines by using CRISPR/Cas9 system, and investigated the gene expression profiles and biological functions.

    Results: Bioinformatic analysis indicated that UV-response genes were negatively regulated in the ARID2 knockout cells, and they were sensitized to UV irradiation. Read More

    Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3.
    Genes Cells 2017 Mar 24;22(3):310-327. Epub 2017 Feb 24.
    Division of Genomic Functions and Dynamics, Biosignal Research Center, Kobe University, 1-1 Rokkodai-cho, Nada-ku, Kobe, Hyogo, 657-8501, Japan.
    In the mammalian global genome nucleotide excision repair pathway, two damage recognition factors, XPC and UV-DDB, play pivotal roles in the initiation of the repair reaction. However, the molecular mechanisms underlying regulation of the lesion recognition process in the context of chromatin structures remain to be understood. Here, we show evidence that damage recognition factors tend to associate with chromatin regions devoid of certain types of acetylated histones. Read More

    Polymorphism of DNA repair gene XPD Lys751Gln and chromosome aberrations in lymphocytes of thyroid cancer patients exposed to ionizing radiation due to the Chornobyl accident.
    Exp Oncol 2016 Dec;38(4):257-260
    State Institution «National Research Centre for Radiation Medicine of National Academy of Medical Sciences of Ukraine», Kyiv 04050, Ukraine.
    The aim of this work was to analyze the relationship between polymorphisms of DNA repair gene XPD Lys751Gln and frequency and spectrum of chromosome aberrations in the culture of peripheral blood lymphocytes of thyroid cancer (TC) patients having been exposed to ionizing radiation due to the Chornobyl accident.

    Materials And Methods: XPD Lys751Gln polymorphisms were detected by polymerase chain reaction in 102 TC patients including 38 patients exposed to ionizing radiation due to Chornobyl disaster (Chornobyl recovery workers, evacuees, and the residents of contaminated areas), 64 patients without history of ionizing radiation exposure and 45 healthy residents of Ukraine as control group.

    Results: In homozygous carriers of the minor allele XPD Gln751Gln, exposed to ionizing radiation, the significantly increased risk of TC (odds ratio = 3. Read More

    Downregulated XPA promotes carcinogenesis of bladder cancer via impairment of DNA repair.
    Tumour Biol 2017 Feb;39(2):1010428317691679
    Urology Institute of People Liberation Army, Southwest Hospital, Third Military Medical University, Chongqing, China.
    Bladder cancer is the most common malignant tumor of urinary system, largely resulting from failure of repair of DNA damage to the environmental insults. The function of XPA in nucleotide excision repair pathway has been well documented. However, participation of XPA in the repair of DNA double-strand break remains unknown. Read More

    XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.
    Cell Mol Life Sci 2017 Jun 27;74(11):2081-2094. Epub 2017 Jan 27.
    Clinic and Policlinic for Dermatology and Venereology, University Medical Centre Rostock, Strempelstrasse 13, 18057, Rostock, Germany.
    The XPF/ERCC1 heterodimeric complex is essentially involved in nucleotide excision repair (NER), interstrand crosslink (ICL), and double-strand break repair. Defects in XPF lead to severe diseases like xeroderma pigmentosum (XP). Up until now, XP-F patient cells have been utilized for functional analyses. Read More

    DNA-Damaging Anticancer Drugs - a Perspective for DNA Repair-Oriented Therapy.
    Curr Med Chem 2017 Jan 24. Epub 2017 Jan 24.
    Department of Molecular Genetics, University of Lodz Lodz, Poland.
    DNA-damaging drugs in cancer present two main problems: therapeutic resistance and side effects and both can associate with DNA repair, which can be targeted in cancer therapy. Bleomycin (BLM) induces complex DNA damages, including strand breaks, base loss and 3'-phosphoglycolate (3'PG) residues repaired by several pathways, but 3'PGs must be processed to the 3'-OH ends, usually by tyrosyl-DNA phosphodiesterase 1 (Tdp1). Therefore, targeting Tdp1 can improve anticancer therapy with BLM. Read More

    A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of 3,N4-ethenocytosine.
    Nucleic Acids Res 2017 Apr;45(6):3242-3252
    Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
    Etheno (ε) DNA base adducts are highly mutagenic lesions produced endogenously via reactions with lipid peroxidation (LPO) products. Cancer-promoting conditions, such as inflammation, can induce persistent oxidative stress and increased LPO, resulting in the accumulation of ε-adducts in different tissues. Using a recently described fluorescence multiplexed host cell reactivation assay, we show that a plasmid reporter bearing a site-specific 3,N4-ethenocytosine (εC) causes transcriptional blockage. Read More

    Sunlight damage to cellular DNA: Focus on oxidatively generated lesions.
    Free Radic Biol Med 2017 Jan 18. Epub 2017 Jan 18.
    Núcleo de Pesquisa em Ciências Biológicas & Departamento de Ciências Biológicas, Instituto de Ciências Exatas e Biológicas, Universidade Federal de Ouro Preto, 35400-000 Ouro Preto, MG, Brazil. Electronic address:
    The routine and often unavoidable exposure to solar ultraviolet (UV) radiation makes it one of the most significant environmental DNA-damaging agents to which humans are exposed. Sunlight, specifically UVB and UVA, triggers various types of DNA damage. Although sunlight, mainly UVB, is necessary for the production of vitamin D, which is necessary for human health, DNA damage may have several deleterious consequences, such as cell death, mutagenesis, photoaging and cancer. Read More

    Exopolysaccharides Isolated from Milk Fermented with Lactic Acid Bacteria Prevent Ultraviolet-Induced Skin Damage in Hairless Mice.
    Int J Mol Sci 2017 Jan 13;18(1). Epub 2017 Jan 13.
    Saisei Mirai Clinic Kobe, Kobe Commerce, Industry and Trade Center Building 23F, 5-1-14 Hamabedori, Chuo-ku, Kobe-shi, Hyogo 651-0083, Japan.
    Background: We studied the mechanism by which fermented milk ameliorates UV-B-induced skin damage and determined the active components in milk fermented with lactic acid bacteria by evaluating erythema formation, dryness, epidermal proliferation, DNA damage and cytokine mRNA levels in hairless mice exposed to acute UV-B irradiation.

    Methods: Nine week-old hairless mice were given fermented milk (1.3 g/kg BW/day) or exopolysaccharide (EPS) concentrate (70 mg/kg BW/day) orally for ten days. Read More

    MiR-488 inhibits proliferation and cisplatin sensibility in non-small-cell lung cancer (NSCLC) cells by activating the eIF3a-mediated NER signaling pathway.
    Sci Rep 2017 Jan 11;7:40384. Epub 2017 Jan 11.
    Departments of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, P. R. China.
    Our previous studied indicated that eukaryotic translation initiation factor 3a (eIF3a) increases the sensitive of platinum-based chemotherapy in lung cancer. MiRNAs play an important role in lung carcinogenesis and drug response. In this study, we aimed to identify potential endogenous miRNAs that inhibit eIF3a expression and determine their influence of this inhibition on cisplatin resistance. Read More

    Noise Stress Induces an Epidermal Growth Factor Receptor/Xeroderma Pigmentosum-A Response in the Auditory Nerve.
    J Histochem Cytochem 2017 Mar 5;65(3):173-184. Epub 2017 Jan 5.
    Cell & Molecular Pathology Laboratory, Department of Communication Sciences and Disorders, Northern Arizona University, Flagstaff, Arizona (OWG).
    In response to toxic stressors, cancer cells defend themselves by mobilizing one or more epidermal growth factor receptor (EGFR) cascades that employ xeroderma pigmentosum-A (XPA) to repair damaged genes. Recent experiments discovered that neurons within the auditory nerve exhibit basal levels of EGFR+XPA co-expression. This finding implied that auditory neurons in particular or neurons in general have the capacity to mobilize an EGFR+XPA defense. Read More

    Detailed Audiological Evaluation of a Patient with Xeroderma Pigmentosum with Neural Degeneration.
    J Am Acad Audiol 2017 Jan;28(1):80-90
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA.
    Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. Read More

    ERCC2/XPD Lys751Gln alter DNA repair efficiency of platinum-induced DNA damage through P53 pathway.
    Chem Biol Interact 2017 Feb 24;263:55-65. Epub 2016 Dec 24.
    Dept. of Toxicology, School of Public Health, China Medical University, Shenyang, PR China. Electronic address:
    Platinum-based treatment causes Pt-DNA adducts which lead to cell death. The platinum-induced DNA damage is recognized and repaired by the nucleotide excision repair (NER) system of which ERCC2/XPD is a critical enzyme. Single nucleotide polymorphisms in ERCC2/XPD have been found to be associated with platinum resistance. Read More

    The cyclopurine deoxynucleosides: DNA repair, biological effects, mechanistic insights, and unanswered questions.
    Free Radic Biol Med 2016 Dec 21. Epub 2016 Dec 21.
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, 5625 Fishers Lane, Rockville, MD 20852, USA.
    Patients with the genetic disease xeroderma pigmentosum (XP) who lack the capacity to carry out nucleotides excision repair (NER) have a dramatically elevated risk of skin cancer on sun exposed areas of the body. NER is the DNA repair mechanism responsible for the removal of DNA lesions resulting from ultraviolet light. In addition, a subset of XP patients develop a progressive neurodegenerative disease, referred to as XP neurologic disease, which is thought to be the result of accumulation of endogenous DNA lesions that are repaired by NER but not other repair pathways. Read More

    Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
    Photodermatol Photoimmunol Photomed 2017 Jan;33(1):58-63
    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Background: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by exaggerated sunburn reactions, freckle-like pigmentation, and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V.

    Methods: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Read More

    Association between genetic variants in the XPG gene and gastric cancer risk in a Southern Chinese population.
    Aging (Albany NY) 2016 Dec;8(12):3311-3320
    Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Department of Experimental Research, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, Guangdong, China.
    Xeroderma pigmentosum group G (XPG) recognizes and excises DNA damage on the 3' side during the DNA repair process. Previous studies indicated that XPG gene polymorphisms may associate with gastric cancer susceptibility, but results were inconsistent. We evaluated the association of five potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C, and rs873601 G>A) with gastric cancer susceptibility in 1142 gastric cancer cases and 1173 controls. Read More

    Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports.
    Case Rep Dermatol 2016 Sep-Dec;8(3):311-318. Epub 2016 Nov 15.
    Dermatology, Faculty of Health Sciences, University of Thies, Thies, Senegal.
    Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. Read More

    Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery.
    Clin Lung Cancer 2017 Mar 9;18(2):178-188.e4. Epub 2016 Nov 9.
    Cancer Biology and Precision Medicine Program, Hospital Germans Trias i Pujol, Catalan Institute of Oncology, Badalona, Spain; Dr Rosell Oncology Institute, Quirón Dexeus University Hospital, Barcelona, Spain; Germans Trias i Pujol Health Sciences Institute and Hospital, Campus Can Ruti, Badalona, Spain.
    Objective: The aim of this study was to evaluate whether xeroderma pigmentosum group D (XPD) and ribonucleotide reductase subunit M1 (RRM1) polymorphisms influenced clinical outcome in patients with stage IIIA-B non-small-cell lung cancer (NSCLC) treated with neoadjuvant gemcitabine/cisplatin/docetaxel followed by surgery.

    Materials And Methods: A total of 109 patients with stage IIIA and IIIB NSCLC were prospectively genotyped to examine a potential association between XPD 312 (aspartic acid [Asp]/asparagine [Asn]), XPD 751 (lysine [Lys]/glutamine [Gln]), and RRM1 (-37 C/A) polymorphisms with response and survival.

    Results: The median survival was 32. Read More

    Pretreatment of Ferulic Acid Protects Human Dermal Fibroblasts against Ultraviolet A Irradiation.
    Ann Dermatol 2016 Dec 23;28(6):740-748. Epub 2016 Nov 23.
    Department of Biological Engineering, Graduate School of Engineering, Konkuk University, Seoul, Korea.
    Background: Approximately 90%~99% of ultraviolet A (UVA) ray reaches the Earth's surface. The deeply penetrating UVA rays induce the formation of reactive oxygen species (ROS), which results in oxidative stress such as photoproducts, senescence, and cell death. Thus, UVA is considered a primary factor that promotes skin aging. Read More

    Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.
    Eur J Obstet Gynecol Reprod Biol 2017 Jan 15;208:36-40. Epub 2016 Nov 15.
    Laboratory of Cancer Genetics, Department of Pathology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland. Electronic address:
    Aim: The reported study was designed to explore associations between the ERCC2- R156R gene single nucleotide polymorphism (SNP) and the risk of ovarian cancer.

    Material And Methods: The R156R (C to A, rs238406) polymorphism of ERCC2 gene was investigated by the PCR-RFLP technique in 400 patients with ovarian carcinoma and 400 age- and sex matched non-cancer controls. Blood samples were obtained from patients treated at the Department of Surgical Gynaecology and Gynaecologic Oncology, Institute of Polish Mothers Memorial Hospital between the years 2000 and 2015. Read More

    Photo-enzymatic repair of UVB-induced DNA damage in the two-spotted spider mite Tetranychus urticae.
    Exp Appl Acarol 2017 Jan 21;71(1):15-34. Epub 2016 Nov 21.
    Laboratory of Ecological Information, Graduate School of Agriculture, Kyoto University, Kyoto, 606-8502, Japan.
    Ambient ultraviolet-B (UVB) radiation induces lethal effects in the two-spotted spider mite Tetranychus urticae, whereas photoreactivation by irradiation with ultraviolet-A and visible light (VIS) plays an important role to increase survival of mites irradiated by UVB. The physiological mechanisms and ecological significance of photoreactivation in terrestrial arthropods have not been shown clearly. We verified the biological impact and accumulation of DNA lesions by UVB irradiation and the repair of them by photoreactivation in T. Read More

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