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    1 OF 121

    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. 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

    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 humanknockout 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 Feb 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 Feb 5. 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 ofTc-methoxyisobutylisonitrile on theandGenes 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

    A case of xeroderma pigmentosum complementation group C with diverse clinical features.
    Br J Dermatol 2018 Jan 12. Epub 2018 Jan 12.
    Division of Dermatology, Internal Realted, Graduate School of Medicine, Kobe University, Japan.
    Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sensitivity to sunlight and increased risk of skin cancers. XP is classified into seven nucleotide excision repair-deficient types (A-G) and a variant type. Differential diagnosis of XP from other genetic pigmentary disorders such as dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH) should be considered, which is sometimes difficult without DNA repair tests or a genetic diagnosis. 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 2017 Dec 18. 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 ofmRNA 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

    Topical application of ST266 reduces UV-induced skin damage.
    Clin Cosmet Investig Dermatol 2017 10;10:459-471. Epub 2017 Nov 10.
    Department of Dermatology, Case Western Reserve University.
    Ultraviolet radiation (UVR) has a significant impact on human skin and is the major environmental factor for skin cancer formation. It is also believed that 80% of the signs of skin aging are attributed to UVR. UVR induces inflammatory changes in the skin via the increase in oxidative stress, DNA damage vascular permeability, and fluctuation in a myriad of cytokines. Read More

    Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
    J Eur Acad Dermatol Venereol 2017 Nov 24. Epub 2017 Nov 24.
    Department of Dermatology, Robert Debré Hospital, Reims, France.
    Background: Little is known about xeroderma pigmentosum (XP) in Himalayan countries.

    Objective: To describe clinical characteristics of XP in Nepal and investigate its genetic bases.

    Methods: This study was carried out on all consecutive patients referred for XP to a Nepalese tertiary referral centre in 2014-2015. Read More

    Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
    J Dermatol Sci 2018 Feb 2;89(2):172-180. Epub 2017 Nov 2.
    Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.
    Background: Skin cancers (SC) are complex diseases that develop from complex combinations of genetic and environmental risk factors. One of the most severe and rare genetic diseases predisposing to SC is the Xeroderma pigmentosum (XP) syndrome.

    Objectives: First, to identify the genetic etiology of XP and to better classify affected patients. Read More

    Association of XPG gene rs751402 polymorphism with gastric cancer risk: a meta-analysis in the Chinese population.
    Int J Biol Markers 2017 Nov 9. Epub 2017 Nov 9.
    Department of Pharmacy, Hefei Fourth People's Hospital, Hefei - PR China.
    Background: Previous studies have revealed a conflicting relationship of xeroderma pigmentosum group G (XPG) gene polymorphism with gastric cancer (GC) risk. To our knowledge, this is the first meta-analysis to investigate the association between rs751402 mutation located on the XPG promoter region and GC risk.

    Methods: We undertook a meta-analysis by identifying relevant articles from the PubMed, Web of Science and China National Knowledge Infrastructure (CNKI) databases on February 28, 2017. Read More

    Binding of calcium and target peptide to calmodulin-like protein CML19, the centrin 2 of Arabidopsis thaliana.
    Int J Biol Macromol 2018 Mar 10;108:1289-1299. Epub 2017 Nov 10.
    Department of Biotechnology, University of Verona, Strada Le Grazie 15, 37134, Italy. Electronic address:
    Calmodulin-like protein 19 (CML19) is an Arabidopsis centrin that modulates nucleotide excision repair (NER) by binding to RAD4 protein, the Arabidopsis homolog of human Xeroderma pigmentosum complementation group C protein. Although the necessity of CML19 as a part of the RAD4 plant recognition complex for functional NER is known at a cellular level, little is known at a molecular level. Herein, we used a combination of biophysical and biochemical approaches to investigate the structural and ion and target-peptide binding properties of CML19. Read More

    Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation.
    Adv Exp Med Biol 2017 ;996:41-54
    Department of Biomedical Sciences, Quillen College of Medicine, East Tennessee State University, Johnson City, TN, 37614, USA.
    The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein. More recent studies have shown that NER also involves numerous other proteins normally employed in DNA metabolism and cell cycle regulation. Read More

    Haplotype CGC from XPD, hOGG1 and ITGA2 polymorphisms increases the risk of nasopharyngeal carcinoma in Malaysia.
    PLoS One 2017 9;12(11):e0187200. Epub 2017 Nov 9.
    Department of Community Health, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Malaysia.
    Background: 8-oxoG, a common DNA lesion resulting from reactive oxygen species (ROS), has been shown to be associated with cancer initiation. hOGG1 DNA glycosylase is the primary enzyme responsible for excision of 8-oxoG through base excision repair (BER). Integrins are members of a family of cell surface receptors that mediate the cell-cell and extracellular matrix (ECM) interactions. Read More

    Modulation of XPC peptide on binding Tbto Euplotes octocarinatus centrin.
    Metallomics 2017 Dec 8;9(12):1796-1808. Epub 2017 Nov 8.
    Institute of Molecular Science, Key Laboratory of Chemical Biology of Molecular Engineering of Education Ministry, Shanxi University, Taiyuan 030006, P. R. China.
    Centrins are Ca-binding proteins found throughout eukaryotic organisms. Xeroderma pigmentosum group C protein (XPC), a dominant component of the nuclear excision repair (NER) pathway, is a critical target protein of centrins. A 22-residue peptide (K842-R863) from XPC was used to investigate the effect of metal ions (Caand Tb) on the peptide binding of Euplotes octocarinatus centrin (EoCen) by isothermal titration calorimetry (ITC) and fluorescence spectroscopy. Read More

    Omics Approaches for Identifying Physiological Adaptations to Genome Instability in Aging.
    Int J Mol Sci 2017 Nov 4;18(11). Epub 2017 Nov 4.
    Institute for Genome Stability in Ageing and Disease, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 26, 50931 Cologne, Germany.
    DNA damage causally contributes to aging and age-related diseases. The declining functioning of tissues and organs during aging can lead to the increased risk of succumbing to aging-associated diseases. Congenital syndromes that are caused by heritable mutations in DNA repair pathways lead to cancer susceptibility and accelerated aging, thus underlining the importance of genome maintenance for withstanding aging. Read More

    Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development.
    Am J Respir Cell Mol Biol 2018 Mar;58(3):402-411
    1 Department of Medicine and.
    Cigarette smoke (CS) exposure is a major risk factor for the development of emphysema, a common disease characterized by loss of cells comprising the lung parenchyma. The mechanisms of cell injury leading to emphysema are not completely understood but are thought to involve persistent cytotoxic or mutagenic DNA damage induced by CS. Using complementary cell culture and mouse models of CS exposure, we investigated the role of the DNA repair protein, xeroderma pigmentosum group C (XPC), on CS-induced DNA damage repair and emphysema. Read More

    ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
    Hum Mutat 2018 Feb 17;39(2):255-265. Epub 2017 Nov 17.
    Department of Pathology, University of Washington, Seattle, Washington.
    Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Read More

    Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.
    Oncotarget 2017 Sep 24;8(44):77385-77399. Epub 2017 Aug 24.
    Department of Biology, Faculty of Sciences, Autónoma University of Madrid, IRYCIS, Madrid, Spain.
    PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma andsquamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Read More

    Association between the polymorphisms in XPG gene and gastric cancer susceptibility in Chinese populations: A PRISMA-compliant meta-analysis.
    Medicine (Baltimore) 2017 Oct;96(42):e8213
    aClinical Laboratory Center, Zhejiang Provincial People's Hospital bPeople's Hospital of Hangzhou Medical College cKey Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province dKey Laboratory of Gastroenterology of Zhejiang Province, Hangzhou, Zhejiang, P. R. China.
    Background: Several previous studies were carried out on the association between xeroderma pigmentosum group G (XPG) gene polymorphisms (including rs873601 G>A, rs2094258 C>T, rs2296147 T>C, and rs751402 C>T) and the risk of gastric cancer in Chinese populations. However, their conclusions were not consistent. Therefore, this meta-analysis was performed by us to investigate the association between the 4 potentially functional single nucleotide polymorphisms (SNPs) of XPG gene and gastric cancer risk. Read More

    Spironolactone-induced degradation of the TFIIH core complex XPB subunit suppresses NF-κB and AP-1 signalling.
    Cardiovasc Res 2018 Jan;114(1):65-76
    Critical Care Medicine Department, Clinical Center.
    Aims: Spironolactone (SPL) improves endothelial dysfunction and survival in heart failure. Immune modulation, including poorly understood mineralocorticoid receptor (MR)-independent effects of SPL might contribute to these benefits and possibly be useful in other inflammatory cardiovascular diseases such as pulmonary arterial hypertension.

    Methods And Results: Using human embryonic kidney cells (HEK 293) expressing specific nuclear receptors, SPL suppressed NF-κB and AP-1 reporter activity independent of MR and other recognized nuclear receptor partners. Read More

    Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy.
    Future Oncol 2017 Dec 16;13(29):2645-2665. Epub 2017 Oct 16.
    Department of Biotechnology, Thapar University, Patiala, Punjab 147002, India.
    Aim: The study investigated role of xeroderma pigmentosum complementation group D (XPD) single nucleotide polymorphisms in modulating lung cancer risk and its association with overall survival and clinical outcomes.

    Methods:  XPD polymorphisms were detected using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP).

    Results:  CC genotype of A751C polymorphism was associated with an increased lung cancer risk (p = 0. Read More

    Dynamics of DNA unwinding by helicases with frequent backward steps.
    Math Biosci 2017 Dec 10;294:33-45. Epub 2017 Oct 10.
    Key Laboratory of Soft Matter Physics and Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190, China. Electronic address:
    XPD (Xeroderma pigmentosum complementation group D) is a prototypical 5' - 3' translocating DNA helicase that exhibits frequent backward steps during DNA unwinding. Here, we propose a model of DNA unwinding by XPD. With the model we explain why XPD exhibits frequent backsteps while other helicases show rare backsteps. Read More

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