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    RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
    Mech Ageing Dev 2018 May 9. Epub 2018 May 9.
    Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.
    Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More

    XPF polymorphism toward lung cancer susceptibility and survival in patients treated with platinum-based chemotherapy.
    Future Oncol 2018 May 9;14(11):1071-1089. Epub 2018 May 9.
    Department of Pulmonary Medicine, Postgraduate Institute of Medical Education & Research (PGIMER), Sector 14, Chandigarh, India.
    Aim: To evaluate the association of three XPF polymorphic variants (673 C>T, 11985 A>G, G415A) with lung cancer, overall survival and clinical response in North Indians.

    Methods: Genotyping was performed using PCR-restriction fragment length polymorphism.

    Results: A total of 673 C>T polymorphism was associated with 1. Read More

    Association between the XPG gene rs2094258 polymorphism and risk of gastric cancer.
    J Clin Lab Anal 2018 May 7:e22564. Epub 2018 May 7.
    General Surgery Department, Tongde Hospital of Zhejiang Province, Hangzhou, China.
    Background: Xeroderma pigmentosum group G (XPG) plays an important role in maintaining the stability and integrity of genomic DNA. Previous studies demonstrate some XPG gene polymorphisms are associated with susceptibility to gastric cancer (GC).

    Methods: The association between XPG rs2094258 polymorphism and GC risk was investigated first by a hospital-based case-control study involving 386 patients and 439 controls and then by a meta-analysis. Read More

    The Role of Genetic Variants in the Association between Dietary Acrylamide and Advanced Prostate Cancer in the Netherlands Cohort Study on Diet and Cancer.
    Nutr Cancer 2018 May-Jun;70(4):620-631. Epub 2018 Apr 26.
    a Department of Epidemiology , GROW - School for Oncology and Developmental Biology, Maastricht University , Maastricht , The Netherlands.
    To investigate the association between dietary acrylanide and advanced prostate cancer, we examined acrylamide-gene interactions for advanced prostate cancer risk by using data from the Netherlands Cohort Study. Participants (n = 58,279 men) completed a baseline food frequency questionnaire (FFQ), from which daily acrylamide intake was calculated. At baseline, 2,411 men were randomly selected from the full cohort for case-cohort analysis. Read More

    Coupling between nucleotide excision repair and gene expression.
    RNA Biol 2018 May 17:1-4. Epub 2018 May 17.
    a Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE-UBA-CONICET) and Departamento de Fisiología, Biología Molecular y Celular, Facultad de Ciencias Exactas y Naturales , Universidad de Buenos Aires, Ciudad Universitaria , Buenos Aires , Argentina.
    Gene expression and DNA repair are fundamental processes for life. During the last decade, accumulating experimental evidence point towards different modes of coupling between these processes. Here we discuss the molecular mechanisms by which RNAPII-dependent transcription affects repair by the Nucleotide Excision Repair system (NER) and how NER activity, through the generation of single stranded DNA intermediates and activation of the DNA damage response kinase ATR, drives gene expression in a genotoxic scenario. Read More

    Diverse roles of RAD18 and Y-family DNA polymerases in tumorigenesis.
    Cell Cycle 2018 May 8:1-11. Epub 2018 May 8.
    a Department of Pathology and Laboratory Medicine , University of North Carolina at Chapel Hill Chapel Hill , NC , USA.
    Mutagenesis is a hallmark and enabling characteristic of cancer cells. The E3 ubiquitin ligase RAD18 and its downstream effectors, the 'Y-family' Trans-Lesion Synthesis (TLS) DNA polymerases, confer DNA damage tolerance at the expense of DNA replication fidelity. Thus, RAD18 and TLS polymerases are attractive candidate mediators of mutagenesis and carcinogenesis. Read More

    Phosphorylation of xeroderma pigmentosum group C regulates ultraviolet-induced DNA damage repair.
    Nucleic Acids Res 2018 Apr 6. Epub 2018 Apr 6.
    Department of Medicine, Section of Dermatology, University of Chicago, Chicago, IL 60637, USA.
    Nucleotide excision repair (NER) is the most versatile DNA repair system that removes bulky DNA damage induced by various endogenous and exogenous factors, including UV radiation. Defects in NER can lead to the xeroderma pigmentosum (XP) syndrome, mainly characterized by increased carcinogenesis in the skin. The function of NER factors, including xeroderma pigmentosum group C (XPC), can be regulated by post-translational modifications such as ubiquitination. Read More

    Impact of fluoride and a static magnetic field on the gene expression that is associated with the antioxidant defense system of human fibroblasts.
    Chem Biol Interact 2018 May 6;287:13-19. Epub 2018 Apr 6.
    Department of Nutrigenomics and Bromatology, School of Pharmacy with the Division of Laboratory Medicine in Sosnowiec, Medical University of Silesia, Katowice, Jednosci 8, 41-200 Sosnowiec, Poland.
    Fluoride cytotoxicity has been associated with apoptosis, oxidative stress, general changes in DNA and RNA and protein biosynthesis, whereas the results of studies on the effect of SMF on antioxidant activity of cells are contradictory. Therefore, the aim of our study was to evaluate the simultaneous exposure of human cells to fluoride SMF that are generated by permanent magnets on the expression profile of the genes that are associated with the antioxidant defense system. Control fibroblasts and fibroblasts that had been treated with fluoride were subjected to the influence of SMF with a moderate induction. Read More

    XPD-The Lynchpin of NER: Molecule, Gene, Polymorphisms, and Role in Colorectal Carcinogenesis.
    Front Mol Biosci 2018 20;5:23. Epub 2018 Mar 20.
    Department of Biochemistry, Kashmir University, Srinagar, India.
    In mammals the bulky DNA adduct lesions known to result in deleterious phenotypes are acted upon and removed from the genomic DNA by nucleotide excision repair (NER) pathway. TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process. The initial damage verification step of the TFIIH is in part dependent upon the helicase activity of XPD. Read More

    Overexpression of xeroderma pigmentosum group C decreases the chemotherapeutic sensitivity of colorectal carcinoma cells to cisplatin.
    Oncol Lett 2018 May 27;15(5):6336-6344. Epub 2018 Feb 27.
    Department of Digestive Endoscopic Diagnosis and Treatment, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200092, P.R. China.
    Xeroderma pigmentosum group C (XPC) is a DNA-damage-recognition gene active at the early stage of DNA repair. XPC also participates in regulation of cell-cycle checkpoint and DNA-damage-induced apoptosis. In the present study, the expression levels of genes involved in nucleotide excision repair (NER) were assessed in human colorectal cancer (CRC) tissue. Read More

    Arsenic-containing hydrocarbons: effects on gene expression, epigenetics, and biotransformation in HepG2 cells.
    Arch Toxicol 2018 Mar 30. Epub 2018 Mar 30.
    Institute of Nutritional Science, University of Potsdam, Arthur-Scheunert-Allee 114-116, 14558, Nuthetal, Germany.
    Arsenic-containing hydrocarbons (AsHCs), a subgroup of arsenolipids found in fish and algae, elicit substantial toxic effects in various human cell lines and have a considerable impact on cellular energy levels. The underlying mode of action, however, is still unknown. The present study analyzes the effects of two AsHCs (AsHC 332 and AsHC 360) on the expression of 44 genes covering DNA repair, stress response, cell death, autophagy, and epigenetics via RT-qPCR in human liver (HepG2) cells. Read More

    XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
    Congenit Anom (Kyoto) 2018 Mar 23. Epub 2018 Mar 23.
    Department of Biotechnology, Faculty of Life Sciences & Informatics, BUITEMS, Quetta, Pakistan.
    Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity, and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Read More

    XPA expression is a predictive marker of the effectiveness of neoadjuvant chemotherapy for locally advanced uterine cervical cancer.
    Oncol Lett 2018 Mar 16;15(3):3766-3771. Epub 2018 Jan 16.
    Department of Obstetrics and Gynecology, Osaka City University Graduate School of Medicine, Osaka 545-8585, Japan.
    The standard treatment for locally advanced uterine cervical cancer is concurrent chemoradiotherapy. Successful neoadjuvant chemotherapy (NAC) may reduce tumor size and facilitate a hysterectomy, thereby improving the prognosis for patients with locally advanced cervical cancer. In contrast, unsuccessful NAC may worsen the prognosis because if a hysterectomy is not possible, the change in treatment plan may delay the initiation of core treatment. Read More

    Association of XPA Polymorphisms Towards Lung Cancer Susceptibility and its Predictive Role in Overall Survival of North Indians.
    Biochem Genet 2018 Mar 7. Epub 2018 Mar 7.
    Department of Biotechnology, Thapar University, Patiala, Punjab, 147002, India.
    The present study investigated the role of Xeroderma pigmentosum group A (XPA) polymorphism (A23G and G709A) with lung cancer risk and its association with overall survival in North Indians. 370 cases and 370 controls were investigated to evaluate association between XPA polymorphism (A23G and G709A) with lung cancer risk using logistic regression analysis. A follow-up study was also conducted for 291 lung cancer cases illustrating correlation between overall survival in lung cancer patients and XPA variants. Read More

    Molecular Mechanism, Dynamics, and Energetics of Protein-Mediated Dinucleotide Flipping in a Mismatched DNA: A Computational Study of the RAD4-DNA Complex.
    J Chem Inf Model 2018 Mar 2;58(3):647-660. Epub 2018 Mar 2.
    Center for Computational Natural Sciences and Bioinformatics , International Institute of Information Technology , Gachibowli 500032 , Hyderabad , Telangana , India.
    DNA damage alters genetic information and adversely affects gene expression pathways leading to various complex genetic disorders and cancers. DNA repair proteins recognize and rectify DNA damage and mismatches with high fidelity. A critical molecular event that occurs during most protein-mediated DNA repair processes is the extrusion of orphaned bases at the damaged site facilitated by specific repairing enzymes. Read More

    XPF plays an indispensable role in relieving silver nanoparticle induced DNA damage stress in human cells.
    Toxicol Lett 2018 May 17;288:44-54. Epub 2018 Feb 17.
    Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom. Electronic address:
    Due to the specific antimicrobial activity of silver nanoparticles (AgNPs), they are widely used in wound dressings, coatings in medical devices and household products. In spite of the well-documented genotoxicity of AgNPs, the molecular mechanisms of relieving AgNP-induced DNA damage stress remain poorly understood. We report here that one of the DNA repair factors, XPF, plays a crucial role in resisting AgNP-induced DNA damage stress in human cells. Read More

    Basal Cell Carcinoma in Cases with or without Xeroderma Pigmentosum.
    JNMA J Nepal Med Assoc 2017 Oct-Dec;56(208):432-437
    Department of Pathology, Manipal College of Medical Science, Pokhara, Nepal.
    Introduction: Basal cell carcinoma is the most common form of cancer in humans and comprises the vast majority of skin cancers. It predominantly affects fair-skinned individuals, and its incidence is rapidly increasing. The objective of the study is to identify the epidemiology, its topography and different histological subtypes of basal cell carcinoma in patients with or without Xeroderma Pigmentosum. Read More

    Nonmelanoma skin cancer in Saudi Arabia: single center experience.
    Ann Saudi Med 2018 Jan-Feb;38(1):42-45
    Dr. Yousef Binamer, MBC 104 Department of Dermatology,, King Faisal Specialist Hospital and Research Centre,, PO Box 3354, Riyadh 11211, Saudi Arabia, T: 966-11-4424602, ORCID:
    Background: Skin cancer is the most common cancer worldwide; one in every three diagnosed malignancies is a skin cancer. However, skin cancer is rarely reported in Saudi Arabia so we conducted this study to highlight these underreported neoplasms.

    Objectives: Determine the prevalence and patterns of basal cell carcinoma (BCC) and primary squamous cell carcinoma (SCC), the most common types of nonmelanoma skin cancer (NMSC) with respect to age, sex, and anatomic location and to identify potentially associated risk factors. Read More

    Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.
    Oncotarget 2018 Jan 8;9(1):1012-1027. Epub 2017 Dec 8.
    Clinic and Policlinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany.
    The two endonucleases XPF and XPG are essentially involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. Defects in these two proteins result in severe diseases like xeroderma pigmentosum (XP). We applied our newly CRISPR/Cas9 generated human knockout cell line with complete loss of XPF and primary fibroblasts from an XP-G patient (XP20BE) to analyze until now uncharacterized spontaneous mRNA splice variants of these two endonucleases. Read More

    A quantitative PCR-based assay reveals that nucleotide excision repair plays a predominant role in the removal of DNA-protein crosslinks from plasmids transfected into mammalian cells.
    DNA Repair (Amst) 2018 02 9;62:18-27. Epub 2018 Jan 9.
    Department of Pharmacology, University of Minnesota-Twin Cities, Minneapolis, MN, 55455, USA. Electronic address:
    DNA-protein crosslinks (DPCs) are complex DNA lesions that induce mutagenesis and cell death. DPCs are created by common antitumor drugs, reactive oxygen species, and endogenous aldehydes. Since these agents create other types of DNA damage in addition to DPCs, identification of the mechanisms of DPC repair is challenging. Read More

    Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
    J Hum Genet 2018 Apr 5;63(4):417-423. Epub 2018 Feb 5.
    Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
    Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. Read More

    PolyQ-expanded huntingtin and ataxin-3 sequester ubiquitin adaptors hHR23B and UBQLN2 into aggregates via conjugated ubiquitin.
    FASEB J 2018 Jan 11:fj201700801RR. Epub 2018 Jan 11.
    State Key Laboratory of Molecular Biology, Chinese Academy of Sciences (CAS) Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology (SIBCB), University of CAS, Shanghai, China.
    The components of ubiquitin (Ub)-proteasome system, such as Ub, Ub adaptors, or proteasome subunits, are commonly accumulated with the aggregated proteins in inclusions, but how protein aggregates sequester Ub-related proteins remains elusive. Using N-terminal huntingtin (Htt-N552) and ataxin (Atx)-3 as model proteins, we investigated the molecular mechanism underlying sequestration of Ub adaptors by polyQ-expanded proteins. We found that polyQ-expanded Htt-N552 and Atx-3 sequester endogenous Ub adaptors, human RAD23 homolog B (hHR23B) and ubiquilin (UBQLN)-2, into inclusions. Read More

    Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
    Ann Clin Transl Neurol 2018 Jan 4;5(1):102-108. Epub 2017 Dec 4.
    Ataxia CentreDepartment of Molecular NeuroscienceUniversity College LondonInstitute of NeurologyLondonWC1N 3BGUnited Kingdom.
    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. Read More

    Xeroderma Pigmentosum - Facts and Perspectives.
    Anticancer Res 2018 02;38(2):1159-1164
    Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany
    Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. Read More

    Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells.
    Med Sci Monit 2018 Jan 24;24:453-460. Epub 2018 Jan 24.
    Department of Dermatology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China (mainland).
    BACKGROUND Cutaneous squamous cell carcinoma (cSCC) is the second most widespread cancer in humans and its incidence is rising. Novel therapy with better efficacy is needed for clinical treatment of cSCC. Many studies have shown the importance of DNA repair pathways during the development of cancer. Read More

    In vivo Exposure Effects of Tc-methoxyisobutylisonitrile on the and Genes Expression in Human Peripheral Blood Lymphocytes.
    Asia Ocean J Nucl Med Biol 2018 ;6(1):32-40
    Nuclear Medicine Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
    Objectives: In recent years, the application of radiopharmaceuticals in nuclear medicine has increased substantially. Following the diagnostic procedures performed in nuclear medicine departments, such as myocardial perfusion imaging, patients generally receive considerable doses of radiation. Normally, radiation-induced DNA damages are expected following exposure to a low-dose ionizing radiation. Read More

    Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
    BMC Med Genet 2018 Jan 11;19(1). Epub 2018 Jan 11.
    Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany.
    Background: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks.

    Case Presentation: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and remarkable sun-sensitivity is described. She only ever had mild haematological abnormalities and no history of malignancy. Read More

    RPA and XPA interaction with DNA structures mimicking intermediates of the late stages in nucleotide excision repair.
    PLoS One 2018 10;13(1):e0190782. Epub 2018 Jan 10.
    Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia.
    Replication protein A (RPA) and the xeroderma pigmentosum group A (XPA) protein are indispensable for both pathways of nucleotide excision repair (NER). Here we analyze the interaction of RPA and XPA with DNA containing a flap and different size gaps that imitate intermediates of the late NER stages. Using gel mobility shift assays, we found that RPA affinity for DNA decreased when DNA contained both extended gap and similar sized flap in comparison with gapped-DNA structure. Read More

    Actual state of knowledge in the field of diseases related with defective nucleotide excision repair.
    Life Sci 2018 Feb 2;195:6-18. Epub 2018 Jan 2.
    Food Science Department, Faculty of Pharmacy, Medical University of Lodz, Muszynskiego 1, 90-151 Lodz, Poland.
    Xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) are rare genetic diseases characterized by a large range of clinical symptoms. However, they are all associated with defects in nucleotide excision repair (NER), the system responsible for removing bulky DNA lesions such as those generated by UV light: cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone photoproducts (6-4 PPs). Over the past years, detailed structural and biochemical information on NER-associated proteins has emerged. Read More

    RAD4 and RAD23/HMR Contribute to Arabidopsis UV Tolerance.
    Genes (Basel) 2017 Dec 28;9(1). Epub 2017 Dec 28.
    Department of Biological Sciences, University of Manitoba, Winnipeg, MB R3T 2N2, Canada.
    In plants, exposure to solar ultraviolet (UV) light is unavoidable, resulting in DNA damage. Damaged DNA causes mutations, replication arrest, and cell death, thus efficient repair of the damaged DNA is essential. A light-independent DNA repair pathway called nucleotide excision repair (NER) is conserved throughout evolution. Read More

    Efficacy of anti-programmed cell death-1 immunotherapy for skin carcinomas and melanoma metastases in a patient with xeroderma pigmentosum.
    Br J Dermatol 2017 Dec 23. Epub 2017 Dec 23.
    Dermatology, Paul Sabatier-Toulouse III University, Institut Universitaire du Cancer de Toulouse, Toulouse, France.
    Xeroderma pigmentosum (XP) is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti-programmed cell death-1 (PD-1) antibody on both melanoma and skin carcinoma in a patient with XP. A 17-year-old patient presented with metastatic melanoma and multiple nonmelanoma skin cancers. Read More

    Lower lip squamous cell carcinoma in patients with photosensitive disorders: Analysis of cases treated at the Brazilian National Cancer Institute (INCA) from 1999 to 2012.
    Med Oral Patol Oral Cir Bucal 2018 Jan 1;23(1):e7-e12. Epub 2018 Jan 1.
    Av. das Acacias, 150, bl.01, ap. 104 Barra da Tijuca, RJ, Brazil 22776000,
    Background: Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC.

    Material And Methods: Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients medical records (n=16). Read More

    Role of mitochondrial dysfunction in the pathophysiology of DNA repair disorders.
    Cell Biol Int 2017 Dec 22. Epub 2017 Dec 22.
    Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
    DNA is constantly being damaged, either by endogenous or exogenous genotoxins. In that regard, DNA repair activities are essential for maintaining genomic stability and to life itself. Mutations in genes encoding DNA repair proteins cause severe human syndromes, but DNA repair defects have also been linked to several other diseases, notably to cancer and normal aging. Read More

    Investigation of DNA repair genes in patients with obsessive-compulsive disorder.
    Adv Clin Exp Med 2017 Nov;26(8):1269-1273
    Institute for Experimental Medicine Research, Istanbul University, Turkey.
    Background: Obsessive-compulsive disorder (OCD) is a major psychiatric disorder identified mostly by obsessions and compulsions. Molecular genetic and gene-expression studies focused on familial and twin cases have shown a wide variety of variant genes related to OCD.

    Objectives: The aim of the study was to investigate DNA repair genes as potential molecular markers in OCD by evaluating the distribution of polymorphisms of DNA repair genes in OCD patients. Read More

    Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population.
    Genet Mol Biol 2018 Jan-Mar;41(1):18-26. Epub 2017 Dec 18.
    Department of Xinjiang Research Institute of Cancer Prevention and Control, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China.
    This study aimed to determine the association between the polymorphisms and haplotypes in the xeroderma pigmentosum group D (XPD) gene and the risk of pancreatic cancer in the Chinese Han population. SNaPshot was used for genotyping six SNP sites of the XPD gene. Comparisons of the correlations between different genotypes in combination with smoking and the susceptibility to pancreatic cancer were performed. Read More

    Prognostic values of excision repair cross-complementing genes mRNA expression in ovarian cancer patients.
    Life Sci 2018 Feb 13;194:34-39. Epub 2017 Dec 13.
    Department of Obstetrics and Gynecology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address:
    Excision repair cross-complementing (ERCC) genes, key components of the nucleotide excision repair pathway, are regarded as crucial factors for DNA repair capacity. Previous studies have investigated prognostic values of ERCC genes in a number of malignancies. However, the relationship between ERCC genes and prognosis of ovarian cancer patients remains controversial. Read More

    Regulation of XPC deubiquitination by USP11 in repair of UV-induced DNA damage.
    Oncotarget 2017 Nov 29;8(57):96522-96535. Epub 2017 Oct 29.
    Department of Medicine, Section of Dermatology, University of Chicago, Chicago, IL, USA.
    Nucleotide excision repair (NER) is the most versatile DNA repair pathway for removing DNA damage caused by UV radiation and many environmental carcinogens. NER is essential for suppressing tumorigenesis in the skin, lungs and brain. Although the core NER proteins have been identified and characterized, molecular regulation of NER remains poorly understood. Read More

    Aging and neurodegeneration are associated with increased mutations in single human neurons.
    Science 2018 02 7;359(6375):555-559. Epub 2017 Dec 7.
    Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
    It has long been hypothesized that aging and neurodegeneration are associated with somatic mutation in neurons; however, methodological hurdles have prevented testing this hypothesis directly. We used single-cell whole-genome sequencing to perform genome-wide somatic single-nucleotide variant (sSNV) identification on DNA from 161 single neurons from the prefrontal cortex and hippocampus of 15 normal individuals (aged 4 months to 82 years), as well as 9 individuals affected by early-onset neurodegeneration due to genetic disorders of DNA repair (Cockayne syndrome and xeroderma pigmentosum). sSNVs increased approximately linearly with age in both areas (with a higher rate in hippocampus) and were more abundant in neurodegenerative disease. Read More

    Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
    BMC Res Notes 2017 Dec 6;10(1):704. Epub 2017 Dec 6.
    Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, 1, Place Louis Pasteur, 20360, Casablanca, Morocco.
    Objective: Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild to severe neural disorders which appear tardily and worsens with age. In this study, 9 patients with moderate clinical profile belonging to 6 XP families were recruited to determine the XPA mutational spectrum in Morocco, using the direct sequencing of the whole coding region of the XPA gene. Read More

    [Expression of XPG Gene in Forensic Age Estimation].
    Fa Yi Xue Za Zhi 2016 Dec 25;32(6):415-419. Epub 2016 Dec 25.
    Department of Forensic Medicine, North Sichuan Medical College, Nanchong 637000, China.
    Objectives: To explore the expression of xeroderma pigmentosum complementation group G () gene in healthy Han population of different ages and to analysis the relationship between the mRNA and protein expression levels of XPG and age, which may provide a new molecular-biological indicator for forensic age determination.

    Methods: Total 150 samples of peripheral blood were collected from healthy Han population of different ages. Total RNA of peripheral blood mononuclear cell (PBMC) were extracted by TRIzol method, and the relative expression of mRNA in PBMC was detected by quantitative real-time PCR, and the protein expression levels of XPG in plasma were detected by ELISA. Read More

    Bilateral ocular surface squamous neoplasia with bilateral periocular basal cell carcinoma in a case of xeroderma pigmentosum.
    BMJ Case Rep 2017 Dec 2;2017. Epub 2017 Dec 2.
    Ocular Oncology Service, Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences (AIIMS), New Delhi, Delhi, India.
    Xeroderma pigmentosum (XP) is an autosomal recessive disorder associated with multiple oculocutaneous manifestations.We discuss a unique case of XP having bilateral ocular surface squamous neoplasia (OSSN) and periocular basal cell carcinoma. In the right eye, a large OSSN mass involving the ocular surface extensively along with intraocular invasion was noted, whereas in the left eye, the tumour mass was involving the limbus, and extending up to three clock hours. Read More

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