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    In vivo Exposure Effects of 99mTc-methoxyisobutylisonitrile on the FDXR and XPA 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

    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 type1 . 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 diagnosis2 . 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 Jan 2. 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-PD-1 on skin carcinomas and melanoma metastases in an Xeroderma Pigmentosum patient.
    Br J Dermatol 2017 Dec 23. Epub 2017 Dec 23.
    Dermatology, Paul Sabatier-Toulouse III University, Institut Universitaire du Cancer de Toulouse and Larrey Hospital, Toulouse, France.
    Xeroderma pigmentosum is an orphan disease of poor prognosis. We report one case of parallel efficacy with anti-PD-1 antibody on both melanoma and skin carcinoma in a xeroderma pigmentosum patient. A 17-year old patient presented with metastatic melanoma and multiple non melanoma 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

    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

    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 2017 Dec 7. 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 fifteen normal individuals (aged 4 months to 82 years) as well as nine 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 (XPG) 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 XPG 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

    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 2017 Nov 2. 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 2017 Nov 10. 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 Tb3+ to 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 Ca2+-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 (Ca2+ and Tb3+) 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

    XPC Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development.
    Am J Respir Cell Mol Biol 2017 Nov 7. Epub 2017 Nov 7.
    National Jewish Health, Denver, Colorado, United States ;
    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 and in situ squamous 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

    Chromatin remodeler CHD1 promotes XPC-to-TFIIH handover of nucleosomal UV lesions in nucleotide excision repair.
    EMBO J 2017 11 10;36(22):3372-3386. Epub 2017 Oct 10.
    Institute of Pharmacology and Toxicology, University of Zurich-Vetsuisse, Zurich, Switzerland
    Ultraviolet (UV) light induces mutagenic cyclobutane pyrimidine dimers (CPDs) in nucleosomal DNA that is tightly wrapped around histone octamers. How global-genome nucleotide excision repair (GG-NER) processes CPDs despite that this chromatin arrangement is poorly understood. An increased chromatin association of CHD1 (chromodomain helicase DNA-binding 1) upon UV irradiation indicated possible roles of this chromatin remodeler in the UV damage response. Read More

    Managing actinic keratosis in primary care.
    Practitioner 2016 10;260(1797):25-9
    Actinic, or solar, keratosis is caused by chronic ultraviolet-induced damage to the epidermis. In the UK, 15-23% of individuals have actinic keratosis lesions. Risk factors include: advanced age; male gender; cumulative sun exposure or phototherapy; Fitzpatrick skin phototypes I-II; long-term immuno-suppression and genetic syndromes e. Read More

    Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.
    J Neurol Sci 2017 Oct 24;381:103-106. Epub 2017 Aug 24.
    Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Japan.
    Introduction: Xeroderma pigmentosum (XP) is an inherited congenital disease presenting with dermatological and neurological manifestations. In Japan, XP complementation group A (XP-A) is most frequently observed in eight clinical subtypes, and the homozygous founder mutation, IVS3-1G>C in XPA, suffer from severe manifestations including progressive brain atrophy since childhood. In this study, we used magnetic resonance imaging (MRI) and applied volumetric analysis to elucidate the start and the progression of the brain atrophy in these patients. Read More

    Dramatic response to nivolumab in xeroderma pigmentosum skin tumor.
    Pediatr Blood Cancer 2018 Feb 8;65(2). Epub 2017 Oct 8.
    Department of Pediatric Hematology-Oncology, CHU Félix Guyon, Saint Denis, France.
    We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. Read More

    The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.
    Nucleic Acids Res 2017 Oct;45(18):10872-10883
    Rudolf Virchow Center for Experimental Biomedicine, Institute for Structural Biology, University of Würzburg, 97080 Würzburg, Germany.
    The general transcription factor IIH (TFIIH) is a multi-protein complex and its 10 subunits are engaged in an intricate protein-protein interaction network critical for the regulation of its transcription and DNA repair activities that are so far little understood on a molecular level. In this study, we focused on the p44 and the p34 subunits, which are central for the structural integrity of core-TFIIH. We solved crystal structures of a complex formed by the p34 N-terminal vWA and p44 C-terminal zinc binding domains from Chaetomium thermophilum and from Homo sapiens. Read More

    Structural dynamics and interactions of Xeroderma pigmentosum complementation group A (XPA98-210) with damaged DNA.
    J Biomol Struct Dyn 2017 Oct 25:1-13. Epub 2017 Oct 25.
    a Molecular Modelling and Simulation Laboratory, Department of Molecular Biology and Biotechnology , Tezpur University , Tezpur 784 028 , Assam , India.
    Nucleotide excision repair (NER) in higher organisms repair massive DNA abrasions caused by ultraviolet rays, and various mutagens, where Xeroderma pigmentosum group A (XPA) protein is known to be involved in damage recognition step. Any mutations in XPA cause classical Xeroderma pigmentosum disease. The extent to which XPA is required in the NER is still unclear. Read More

    A Polymorphism Located Near PMAIP1/Noxa Gene Influences Susceptibility to Hodgkin Lymphoma Development in South India
    Asian Pac J Cancer Prev 2017 09 27;18(9):2477-2483. Epub 2017 Sep 27.
    Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Gorimedu, Puducherry, India. Email:
    Background: Single nucleotide polymorphisms (SNPs) in DNA repair and Toll-like receptor (TLR) genes have been reported to be associated with Hodgkin Lymphoma (HL) risk. Since such associations may be ethnicity dependent, polymorphisms in TLR4 rs1554973, Xeroderma pigmentosum C (XPC) rs2228000, rs2228001 and a variant near PMAIP1/Noxa gene rs8093763 were here investigated with regard to HL susceptibility in a south Indian population. Normative frequencies of SNPs were established and compared with data for 1000 genome populations. Read More

    Design and Structure-Guided Development of Novel Inhibitors of the Xeroderma Pigmentosum Group A (XPA) Protein-DNA Interaction.
    J Med Chem 2017 Oct 21;60(19):8055-8070. Epub 2017 Sep 21.
    Department of Medicine, Indiana University School of Medicine , Indianapolis, Indiana 46202, United States.
    XPA is a unique and essential protein required for the nucleotide excision DNA repair pathway and represents a therapeutic target in oncology. Herein, we are the first to develop novel inhibitors of the XPA-DNA interaction through structure-guided drug design efforts. Ester derivatives of the compounds 1 (X80), 22, and 24 displayed excellent inhibitory activity (IC50 of 0. Read More

    XRCC1 and XPD polymorphisms and their relation to the clinical course in hepatocarcinoma patients.
    Oncol Lett 2017 Sep 5;14(3):2783-2788. Epub 2017 Jul 5.
    Department of General Surgery, Qilu Hospital, Shandong University, Jinan, Shandong 250012, P.R. China.
    In this study genotyping of hepatocellular carcinoma (HCC) patients was conducted to detect polymorphisms on the X-ray repair cross-complementing 1 (XRCC1) and xeroderma pigmentosum complementary group D (XPD) genes and analyze the relationship of their presence with the clinical features of the cancer. A total of 172 patients with HCC were selected in Qilu Hospital, Shandong University, from January 2010 to September 2011. All patients underwent resection of HCC and no tumor metastases were found. Read More

    The melanocortin signaling cAMP axis accelerates repair and reduces mutagenesis of platinum-induced DNA damage.
    Sci Rep 2017 Sep 15;7(1):11708. Epub 2017 Sep 15.
    The Markey Cancer Center, University of Kentucky College of Medicine, Lexington, Kentucky, 40536, USA.
    Using primary melanocytes and HEK293 cells, we found that cAMP signaling accelerates repair of bi- and mono-functional platinum-induced DNA damage. Elevating cAMP signaling either by the agonistic MC1R ligand melanocyte stimulating hormone (MSH) or by pharmacologic cAMP induction by forskolin enhanced clearance of intrastrand cisplatin-adducts in melanocytes or MC1R-transfected HEK293 cells. MC1R antagonists human beta-defensin 3 and agouti signaling protein blocked MSH- but not forskolin-mediated enhancement of platinum-induced DNA damage. Read More

    The cryo-electron microscopy structure of human transcription factor IIH.
    Nature 2017 09 13;549(7672):414-417. Epub 2017 Sep 13.
    California Institute for Quantitative Biology (QB3), University of California, Berkeley, California 94720, USA.
    Human transcription factor IIH (TFIIH) is part of the general transcriptional machinery required by RNA polymerase II for the initiation of eukaryotic gene transcription. Composed of ten subunits that add up to a molecular mass of about 500 kDa, TFIIH is also essential for nucleotide excision repair. The seven-subunit TFIIH core complex formed by XPB, XPD, p62, p52, p44, p34, and p8 is competent for DNA repair, while the CDK-activating kinase subcomplex, which includes the kinase activity of CDK7 as well as the cyclin H and MAT1 subunits, is additionally required for transcription initiation. Read More

    Acellular Dermal Matrix: Treating Periocular Melanoma in a Patient with Xeroderma Pigmentosa.
    Plast Reconstr Surg Glob Open 2017 Aug 22;5(8):e1442. Epub 2017 Aug 22.
    Department of Plastic and Reconstructive Surgery, University of Cape Town, South Africa.
    We report a 7-year-old girl with xeroderma pigmentosum (XP), who presented in our clinic with a large melanoma (35 × 50 × 20 mm, Breslow depth 18 mm) in the zygomatic-malar area. Palliative surgery was performed to maintain her residual vision and to reduce the pain caused by the compression of local structures. Because of the limited access of autologous skin grafts in pediatric patients with XP who are severely affected, we opted to use an acellular dermal matrix. Read More

    XPG gene rs751402 C>T polymorphism and cancer risk: Evidence from 22 publications.
    Oncotarget 2017 Aug 18;8(32):53613-53622. Epub 2017 Jul 18.
    Department of Hematology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, Zhejiang, China.
    The Xeroderma pigmentosum group G (XPG) gene promotes recognition and excision of damaged DNA during the DNA repair process. We conducted a comprehensive search of the MEDLINE, EMBASE, and Chinese Biomedical databases for publications evaluating the association XPG gene rs751402 C>T polymorphism and overall cancer risk. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were adopted to assess the strength of the association. Read More

    Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.
    J Biol Chem 2017 10 31;292(41):16847-16857. Epub 2017 Aug 31.
    From the Departments of Chemistry and
    Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multiprotein nucleotide excision repair (NER) machinery. The interaction of XPA with DNA is a core function of this protein; a number of mutations in the DNA-binding domain (DBD) are associated with XP disease. Although structures of the central globular domain of human XPA and data on binding of DNA substrates have been reported, the structural basis for XPA's DNA-binding activity remains unknown. Read More

    Transcription coupled repair deficiency protects against human mutagenesis and carcinogenesis: Personal Reflections on the 50th anniversary of the discovery of xeroderma pigmentosum.
    DNA Repair (Amst) 2017 Oct 23;58:21-28. Epub 2017 Aug 23.
    Department of Dermatology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA, 94143. Electronic address:
    Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis. Read More

    Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma.
    Arch Soc Esp Oftalmol 2017 Aug 23. Epub 2017 Aug 23.
    Departamento de Oftalmología, Hospital Universitario y Politécnico la Fe, Valencia, España.
    Case Report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Read More

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