6,152 results match your criteria Xeroderma Pigmentosum


The influence of perceived medical risks and psychosocial concerns on photoprotection behaviours among adults with xeroderma pigmentosum: a qualitative interview study in the UK.

BMJ Open 2019 Feb 19;9(2):e024445. Epub 2019 Feb 19.

National Xeroderma Pigmentosum Service, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Background: A high level of photoprotection is required by people with xeroderma pigmentosum (XP), a rare skin disease, to reduce skin cancer and other risks. However poor photoprotection is thought to be widespread.

Purpose: This study examines the influences on photoprotection behaviours in adults with XP. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-024445DOI Listing
February 2019

Association between polymorphisms of Xeroderma pigmentosum complementation group C gene (XPC) and susceptibility to schizophrenia.

Gene 2019 Feb 12;695:99-100. Epub 2019 Feb 12.

Department of Biology, College of Sciences, Shiraz University, Shiraz, Iran. Electronic address:

Previous studies revealed that polymorphisms in several DNA repair genes are associated with the risk of schizophrenia. The relationship between three polymorphisms (Ala499Val, PAT, and Lys939Gln) of the XPC (MIM: 613208) and the risk of schizophrenia is investigated. A total of 361 schizophrenia cases and 360 healthy controls were included in the study. Read More

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http://dx.doi.org/10.1016/j.gene.2019.02.018DOI Listing
February 2019
1 Read

Approaches to Photoprotection and Normalization in Highly Adherent Families of Children With Xeroderma Pigmentosum in the United Kingdom.

Qual Health Res 2019 Feb 9:1049732319826561. Epub 2019 Feb 9.

1 King's College London, London, United Kingdom.

In this study, we examine photoprotection for children with Xeroderma pigmentosum (XP), a rare genetic skin disease requiring rigorous photoprotection, to reduce risks of severe burning and skin cancers from exposure to ultraviolet radiation (UVR). We elicit the views and experiences of both children and their parents to inform the care and support provided. Qualitative semistructured interviews were undertaken with 12 child-parent dyads recruited from the National XP Specialist service in London. Read More

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http://dx.doi.org/10.1177/1049732319826561DOI Listing
February 2019
1 Read

Fibroblasts activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

Br J Dermatol 2019 Jan 28. Epub 2019 Jan 28.

Department of Bioengineering, Universidad Carlos III de Madrid, Madrid, Spain.

Background: Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and Xeroderma pigmentosum C (XPC) are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. Recent evidence highlights the role of the stromal microenvironment in the pathology of these disorders.

Objectives: To investigate, by means of comparative gene expression analysis, the role played by dermal fibroblasts in the pathogenesis of RDEB, KS and XPC. Read More

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http://dx.doi.org/10.1111/bjd.17698DOI Listing
January 2019

Vitamin D supplementation in patients with xeroderma pigmentosum.

Indian J Ophthalmol 2019 Feb;67(2):308-309

Tej Kohli Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

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http://dx.doi.org/10.4103/ijo.IJO_1319_18DOI Listing
February 2019
3 Reads
0.927 Impact Factor

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Am J Hum Genet 2019 Feb 18;104(2):275-286. Epub 2019 Jan 18.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK. Electronic address:

More than 100,000 genetic variants are classified as disease causing in public databases. However, the true penetrance of many of these rare alleles is uncertain and might be over-estimated by clinical ascertainment. Here, we use data from 379,768 UK Biobank (UKB) participants of European ancestry to assess the pathogenicity and penetrance of putatively clinically important rare variants. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.015DOI Listing
February 2019
4 Reads
10.931 Impact Factor

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.

Genes (Basel) 2019 Jan 17;10(1). Epub 2019 Jan 17.

Departament de Genètica i de Microbiologia, Universitat Autònoma de Barcelona, 08028 Barcelona, Spain.

XPF endonuclease is one of the most important DNA repair proteins. Encoded by /, XPF provides the enzymatic activity of XPF-ERCC1 heterodimer, an endonuclease that incises at the 5' side of various DNA lesions. XPF is essential for nucleotide excision repair (NER) and interstrand crosslink repair (ICLR). Read More

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http://www.mdpi.com/2073-4425/10/1/60
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http://dx.doi.org/10.3390/genes10010060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357085PMC
January 2019
9 Reads

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 01 17. Epub 2019 Jan 17.

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.

Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. Read More

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http://dx.doi.org/10.2340/00015555-3123DOI Listing
January 2019
7 Reads

DNA repair as an emerging target for COPD-lung cancer overlap.

Respir Investig 2019 Jan 7. Epub 2019 Jan 7.

Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, Indiana; The Richard L. Roudebush Veterans Affairs Medical Center; 980W, Walnut Street, Walther Hall, C400, Indianapolis, IN, 46202, USA. Electronic address:

Cigarette smoking is the leading cause of lung cancer and chronic obstructive pulmonary disease (COPD). Many of the detrimental effects of cigarette smoke have been attributed to the development of DNA damage, either directly from chemicals contained in cigarette smoke or as a product of cigarette smoke-induced inflammation and oxidative stress. In this review, we discuss the environmental, epidemiological, and physiological links between COPD and lung cancer and the likely role of DNA damage and repair in COPD and lung cancer development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22125345183011
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http://dx.doi.org/10.1016/j.resinv.2018.11.005DOI Listing
January 2019
5 Reads

XPC inhibition rescues cisplatin resistance via the Akt/mTOR signaling pathway in A549/DDP lung adenocarcinoma cells.

Oncol Rep 2019 Mar 9;41(3):1875-1882. Epub 2019 Jan 9.

Department of Pharmacy, Harbin Medical University Cancer Hospital, Harbin, Heilongjiang 150086, P.R. China.

Xeroderma pigmentosum, complementation group C (XPC) is an accessory recognition gene involved in the nucleotide excision repair (NER) pathway, which is activated during the initial DNA damage recognition stage. It participates in the regulation of DNA damage‑induced proliferation and apoptosis. Emerging evidence demonstrates that upregulation of XPC increases the resistance of several tumor cell types to cytotoxic drugs. Read More

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http://www.spandidos-publications.com/10.3892/or.2019.6959
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http://dx.doi.org/10.3892/or.2019.6959DOI Listing
March 2019
4 Reads

XPC protects against smoking and carcinogen-induced lung adenocarcinoma.

Carcinogenesis 2019 Jan 8. Epub 2019 Jan 8.

Division of Pulmonary, Critical Care, Sleep and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, Indiana; The Richard L. Roudebush Veterans Affairs Medical Center, Indianapolis, IN, U.S.A.

Cigarette smoke (CS) contains hundreds of carcinogens and is a potent inducer of oxidative and bulky DNA damage, which when insufficiently repaired leads to activation of DNA damage response and possibly mutations. The DNA repair protein xeroderma pigmentosum group C (XPC) is primed to play an important role in CS-induced DNA damage due to its function in initiating repair of both bulky oxidative DNA damage. We hypothesized that loss of XPC function will increase susceptibility to developing CS-carcinogen induced lung cancer through impaired repair of oxidative DNA damage. Read More

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http://dx.doi.org/10.1093/carcin/bgz003DOI Listing
January 2019

The redefined DNA-binding domain of human xeroderma pigmentosum complementation group A: production, crystallization and structure solution.

Acta Crystallogr F Struct Biol Commun 2019 Jan 1;75(Pt 1):62-66. Epub 2019 Jan 1.

School of Biomedical Sciences, The University of Hong Kong, Hong Kong, People's Republic of China.

Human xeroderma pigmentosum complementation group A (XPA) is a scaffold protein that plays significant roles in DNA-damage verification and in recruiting downstream endonucleases to facilitate the repair of DNA lesions in nucleotide-excision repair. XPA (residues 98-219) has been identified as a DNA-binding domain and has been extensively studied in the last two decades. However, the most recent studies have redefined the DNA-binding domain as XPA (residues 98-239); it exerts a remarkably higher DNA-binding affinity than XPA and has a binding affinity that is quite similar to that of the full-length protein. Read More

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http://scripts.iucr.org/cgi-bin/paper?S2053230X18016990
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http://dx.doi.org/10.1107/S2053230X18016990DOI Listing
January 2019
8 Reads

Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism.

Biomed Rep 2019 Jan 30;10(1):10-16. Epub 2018 Oct 30.

Department of Higher Studies, Arabian Gulf University, Manama 26671, Kingdom of Bahrain.

In Hodgkin's lymphoma (HL), single nucleotide polymorphisms (SNPs) of specific DNA repair genes have been identified to have an important role in the risk of HL. Consequently, they may also serve an important role in HL prognosis and disease outcome. The present study aimed to define an SNP molecular profile, based on DNA repair genes mutations, as predictive biomarkers for the prognostic outcome of patients with Classical HL (CHL) in Saudi Arabia. Read More

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http://www.spandidos-publications.com/10.3892/br.2018.1165
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http://dx.doi.org/10.3892/br.2018.1165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299211PMC
January 2019
5 Reads

XPC deficiency leads to centrosome amplification by inhibiting BRCA1 expression upon cisplatin-mediated DNA damage in human bladder cancer.

Cancer Lett 2019 Mar 21;444:136-146. Epub 2018 Dec 21.

Department of Cell Biology, The Third Military Medical University, Chongqing, PR China. Electronic address:

Xeroderma pigmentosum group C (XPC) is a well-known DNA damage recognition protein. Defects in XPC lead to carcinogenesis and progression of many human cancers. In the current study, we defined a novel, important role of XPC in preventing centrosome amplification during cisplatin-mediated DNA damage response. Read More

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http://dx.doi.org/10.1016/j.canlet.2018.12.004DOI Listing
March 2019
1 Read

Does ocular inflammation play a role in xeroderma pigmentosum with endothelial dysfunction: an immunological study.

BMJ Case Rep 2018 Nov 28;11(1). Epub 2018 Nov 28.

Ocular Pathology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi.

We report a case of xeroderma pigmentosum (XP) with endothelial dysfunction where the analysis of tears revealed elevated levels of proinflammatory cytokines, even in the absence of active inflammation and neovascularisation of the ocular surface. Although the role of ultraviolet (UV) radiation-induced inflammation in the occurrence of ocular manifestations of XP is known, little is published on the molecular mechanisms and there are no reports quantifying the presence of inflammatory cytokines in the tears of patients with ocular involvement of XP. Tear analysis demonstrated an increase in inflammatory cytokines and chemokines, especially interleukin-8 (2. Read More

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http://dx.doi.org/10.1136/bcr-2018-225384DOI Listing
November 2018

Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.

Photochem Photobiol 2019 Jan 28;95(1):140-153. Epub 2018 Dec 28.

Division of Neurology, Graduate School of Medicine, Kobe University, Kobe, Hyogo, Japan.

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease caused by deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds. Patients with XP display pigmentary change and numerous skin cancers in sun-exposed sites, and some patients show exaggerated severe sunburns even upon minimum sun exposure as well as neurological symptoms. We conducted a nationwide survey for XP since 1980. Read More

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http://dx.doi.org/10.1111/php.13052DOI Listing
January 2019
1 Read

Function and Interactions of ERCC1-XPF in DNA Damage Response.

Molecules 2018 Dec 5;23(12). Epub 2018 Dec 5.

Bijvoet Center for Biomolecular Research, Utrecht University, Padualaan 8, 3584 CH Utrecht, The Netherlands.

Numerous proteins are involved in the multiple pathways of the DNA damage response network and play a key role to protect the genome from the wide variety of damages that can occur to DNA. An example of this is the structure-specific endonuclease ERCC1-XPF. This heterodimeric complex is in particular involved in nucleotide excision repair (NER), but also in double strand break repair and interstrand cross-link repair pathways. Read More

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http://dx.doi.org/10.3390/molecules23123205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320978PMC
December 2018

Regulation of Structure-Specific Endonucleases in Replication Stress.

Genes (Basel) 2018 Dec 14;9(12). Epub 2018 Dec 14.

Program in Molecular & Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.

Replication stress results in various forms of aberrant replication intermediates that need to be resolved for faithful chromosome segregation. Structure-specific endonucleases (SSEs) recognize DNA secondary structures rather than primary sequences and play key roles during DNA repair and replication stress. Holliday junction resolvase MUS81 (methyl methane sulfonate (MMS), and UV-sensitive protein 81) and XPF (xeroderma pigmentosum group F-complementing protein) are a subset of SSEs that resolve aberrant replication structures. Read More

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http://dx.doi.org/10.3390/genes9120634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316474PMC
December 2018

Astaxanthin enhances erlotinib-induced cytotoxicity by p38 MAPK mediated xeroderma pigmentosum complementation group C (XPC) down-regulation in human lung cancer cells.

Toxicol Res (Camb) 2018 Nov 19;7(6):1247-1256. Epub 2018 Sep 19.

Department of Biochemical Science and Technology , National Chiayi University , Chiayi , Taiwan . Email: ; ; Tel: +886-5-271-7770.

Astaxanthin has been demonstrated to exhibit a wide range of beneficial effects that include anti-cancer and anti-inflammatory properties. Xeroderma pigmentosum complementation group C (XPC) protein is an important DNA damage recognition factor in nucleotide excision repair and is involved in regulating non-small cell lung cancer (NSCLC) cell proliferation and viability. Erlotinib (Tarceva) is a selective epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor that has demonstrated clinical activity in NSCLC cells. Read More

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http://dx.doi.org/10.1039/c7tx00292kDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247823PMC
November 2018
1 Read

The key role of UVA-light induced oxidative stress in human Xeroderma Pigmentosum Variant cells.

Free Radic Biol Med 2019 Feb 13;131:432-442. Epub 2018 Dec 13.

Department of Microbiology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil. Electronic address:

The UVA component of sunlight induces DNA damage, which are basically responsible for skin cancer formation. Xeroderma Pigmentosum Variant (XP-V) patients are defective in the DNA polymerase pol eta that promotes translesion synthesis after sunlight-induced DNA damage, implying in a clinical phenotype of increased frequency of skin cancer. However, the role of UVA-light in the carcinogenesis of these patients is not completely understood. Read More

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http://dx.doi.org/10.1016/j.freeradbiomed.2018.12.012DOI Listing
February 2019
13 Reads

Polymorphisms in XPC gene and risk for prostate cancer.

Mol Biol Rep 2018 Dec 14. Epub 2018 Dec 14.

Laboratory of Protein Engineering and Bio-active Molecules, National Institute of Applied Science and Technology - University of Carthage, Tunis, Tunisia.

Single nucleotide polymorphisms (SNP) in repair gene DNA such as XPC gene can reduce the DNA repair capacity (DRC). Reduced DRC induce genetic instability and may increase the susceptibility to prostate cancer (PC). We conducted a case-controls study to examine the relationship between XPC Lys939Gln and XPC-PAT polymorphisms and the risk for prostate cancer in Tunisian population. Read More

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http://link.springer.com/10.1007/s11033-018-4572-2
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http://dx.doi.org/10.1007/s11033-018-4572-2DOI Listing
December 2018
8 Reads

Correlation of xeroderma pigmentosum complementation group F expression with gastric cancer and prognosis.

Oncol Lett 2018 Dec 28;16(6):6971-6976. Epub 2018 Sep 28.

Department of Anesthesia, Dezhou People's Hospital, Dezhou, Shandong 253014, P.R. China.

Correlation of xeroderma pigmentosum complementation group F (XPF) expression with gastric cancer and prognosis was investigated. We randomly selected 76 gastric cancer patients who were admitted to the Second People's Hospital of Dezhou City and received treatment, and detected XPF expression in gastric cancer tissues (observation group) and normal gastric mucosa adjacent to tumor (control group) via immunohistochemistry. Correlation between XPF expression and clinicopathological indicators of gastric cancer was verified via single-factor Chi-square test. Read More

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http://dx.doi.org/10.3892/ol.2018.9529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256733PMC
December 2018

Genetic polymorphisms of ERCC-1 and ERCC-2 are not prognostic markers in osteosarcoma patients with chemotherapy: A meta-analysis in Chinese population.

Medicine (Baltimore) 2018 Dec;97(49):e13358

Department of Laboratory Medicine, Jiangsu Vocational College of Medicine, Zhenjiang, Jiangsu, China.

Aim: To make an accurate estimation of the association of ERCC1 and ERCC2 polymorphisms with osteosarcoma (OS) prognosis in Chinese population.

Methods: Total 7 qualified studies with 1404 osteosarcoma patients were included. Odds ratios (OR) with 95% CIs were pooled for the survival rate in different osteosarcoma patients with ERCC1 and ERCC2 genetic polymorphisms. Read More

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http://dx.doi.org/10.1097/MD.0000000000013358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310529PMC
December 2018
12 Reads

Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors.

JAMA Otolaryngol Head Neck Surg 2018 Dec 13. Epub 2018 Dec 13.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1001/jamaoto.2018.3218DOI Listing
December 2018
1 Read

Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study.

Neuroophthalmology 2018 Dec 22;42(6):356-366. Epub 2018 May 22.

Department of Ophthalmology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

The purpose of this study was to evaluate retinal thickness in different Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical coherence tomography (SD-OCT). This was a cross-sectional pilot study of 40 patients with XP. All patients had healthy-looking retinae and optic nerves on slit lamp biomicroscopy, and subtle or no neurological deficits. Read More

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http://dx.doi.org/10.1080/01658107.2018.1452038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276955PMC
December 2018

Meta-analysis on the association between xeroderma pigmentosum Group A A23G polymorphism and esophageal cancer in a Chinese population.

J Cancer Res Ther 2018 Dec;14(Supplement):S1173-S1177

Department of Radiation Oncology, Qilu Hospital of Shandong University, Jinan 250012, China.

Aim Of The Study: Several studies have evaluated the correlation between xeroderma pigmentosum Group A (XPA) A23G polymorphism (rs 1800975) and esophageal cancer in Chinese people. However, the results are inconsistent. To assess the effects of XPA A23G variants on the risk for development of esophageal cancer in the Chinese population, a meta-analysis was performed. Read More

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http://www.cancerjournal.net/text.asp?2018/14/7/1173/184517
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http://dx.doi.org/10.4103/0973-1482.184517DOI Listing
December 2018
9 Reads

miR‑138‑5p modulates the expression of excision repair cross‑complementing proteins ERCC1 and ERCC4, and regulates the sensitivity of gastric cancer cells to cisplatin.

Oncol Rep 2019 Feb 6;41(2):1131-1139. Epub 2018 Dec 6.

Department of Oncology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China.

The microRNA (miR)‑138‑5p affects the chemotherapeutic sensitivity of several human cancer types. In the present study, the expression and regulatory mechanisms of miR‑138‑5p were investigated in the gastric cancer cell line SGC7901 and its cisplatin‑resistant derivative SGC7901/DDP. Gene microarray and reverse transcription‑quantitative polymerase chain reaction analyses revealed that miR‑138‑5p was expressed at significantly lower levels in SGC7901/DDP compared with SGC7901 cells. Read More

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http://dx.doi.org/10.3892/or.2018.6907DOI Listing
February 2019
2.191 Impact Factor

The relationship between DNA repair genes (XPA, XPF, XPG) polymorphism and the risk of preeclampsia in Chinese Han Women.

Pregnancy Hypertens 2018 Oct 2;14:145-149. Epub 2018 Oct 2.

Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China. Electronic address:

Our study aimed to investigate the association between polymorphism of three core genes belonging to NER pathway and preeclampsia (PE) risk in Chinese Han Women. The DNA used in our experiment was extracted from 1004 cases and 1274 normal pregnant women. All single nucleotide polymorphisms (SNPs) were analyzed with TaqMan allelic discrimination real-time PCR. Read More

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http://dx.doi.org/10.1016/j.preghy.2018.09.008DOI Listing
October 2018
2 Reads

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

JAMA Dermatol 2018 Dec 5. Epub 2018 Dec 5.

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

Importance: Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations.

Objective: To correlate disease-associated allele frequencies with expected and reported prevalence of clinical disease.

Design, Setting, And Participants: Xeroderma pigmentosum (XP), a recessive, cancer-prone, neurocutaneous disorder, was used as a model for this study. Read More

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http://dx.doi.org/10.1001/jamadermatol.2018.4473DOI Listing
December 2018
11 Reads

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.

JAAD Case Rep 2018 Nov 14;4(10):1074-1076. Epub 2018 Nov 14.

Division of Dermatology, Dell Medical School, University of Texas at Austin, Austin, Texas.

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http://dx.doi.org/10.1016/j.jdcr.2018.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250902PMC
November 2018
1 Read

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Br J Pharmacol 2018 Nov 30. Epub 2018 Nov 30.

Ataxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.

Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25-30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration and ataxia. Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. Read More

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http://doi.wiley.com/10.1111/bph.14557
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http://dx.doi.org/10.1111/bph.14557DOI Listing
November 2018
8 Reads

Filling gaps in translesion DNA synthesis in human cells.

Mutat Res 2018 Dec 23;836(Pt B):127-142. Epub 2018 Feb 23.

Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

During DNA replication, forks may encounter unrepaired lesions that hamper DNA synthesis. Cells have universal strategies to promote damage bypass allowing cells to survive. DNA damage tolerance can be performed upon template switch or by specialized DNA polymerases, known as translesion (TLS) polymerases. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13835718173028
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http://dx.doi.org/10.1016/j.mrgentox.2018.02.004DOI Listing
December 2018
11 Reads

Silencing of Xeroderma Pigmentosum Group D Gene Promotes Hepatoma Cell Growth by Reducing P53 Expression.

Med Sci Monit 2018 Nov 9;24:8015-8021. Epub 2018 Nov 9.

Department of Electrocardiogram Diagnosis, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China (mainland).

BACKGROUND This study investigated the effect of xeroderma pigmentosum group D (XPD) silencing on the growth of hepatoma cells and assessed the mechanisms. MATERIAL AND METHODS XPD gene was silenced by siRNA in hepatoma cells. The experiments were randomly divided into a control group, a liposome control group, a negative control (NC) group, an XPD siRNA group, and an XPD siRNA + P53 inhibitor group. Read More

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https://www.medscimonit.com/abstract/index/idArt/910944
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http://dx.doi.org/10.12659/MSM.910944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238547PMC
November 2018
13 Reads

Xeroderma pigmentosum.

Ann Dermatol Venereol 2018 Nov 6;145(11):706-722. Epub 2018 Nov 6.

Service de dermatologie, Hôpital La Rabta, Tunis, Tunisie; Unité de recherche UR 12SP07, Hôpital La Rabta, Tunis, Tunisie. Electronic address:

Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. In addition to these signs, there may also be neurological involvement. This disease is related to a defect in genes within the nucleotide excision repair system for the first seven genetic groups (A-G), and to an abnormality in transcription groups for the eighth group (xeroderma pigmentosum variant - XPV). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01519638183055
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http://dx.doi.org/10.1016/j.annder.2018.09.004DOI Listing
November 2018
10 Reads

Targeting the DNA Repair Endonuclease ERCC1-XPF with Green Tea Polyphenol Epigallocatechin-3-Gallate (EGCG) and Its Prodrug to Enhance Cisplatin Efficacy in Human Cancer Cells.

Nutrients 2018 Nov 3;10(11). Epub 2018 Nov 3.

Department of Oncology, Karmanos Cancer Institute, Wayne State University, Detroit, MI 48201, USA.

The 5'-3' structure-specific endonuclease ERCC1/XPF (Excision Repair Cross-Complementation Group 1/Xeroderma Pigmentosum group F) plays critical roles in the repair of cisplatin-induced DNA damage. As such, it has been identified as a potential pharmacological target for enhancing clinical response to platinum-based chemotherapy. The goal of this study was to follow up on our previous identification of the compound NSC143099 as a potent inhibitor of ERCC1/XPF activity by performing an in silico screen to identify structural analogues that could inhibit ERCC1/XPF activity in vitro and in vivo. Read More

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http://www.mdpi.com/2072-6643/10/11/1644
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http://dx.doi.org/10.3390/nu10111644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267282PMC
November 2018
5 Reads

Rapidly Growing Conjunctival Squamous Cell Carcinoma Following Corneal Transplantation in a Patient with Xeroderma Pigmentosum.

Transplantation 2018 Nov 5. Epub 2018 Nov 5.

Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.1097/TP.0000000000002521DOI Listing
November 2018
2 Reads

Otological surgery in paediatric photosensitive patients.

Int J Pediatr Otorhinolaryngol 2018 Dec 15;115:175-176. Epub 2018 Sep 15.

Great Ormond Street Hospital, London, UK.

There are a wide range of genetic and auto-immune conditions where UV light exposure poses a threat of UV irradiation to the external auditory canal, tympanic membrane and surrounding skin. Preoperative Ultraviolet Light (UV) measurements were taken in the operating theatre with standard operating microscope and an approved UV light meter prior to surgery on a patient with xeroderma pigmentosa. UV light meter readings of UV index 75 were taken at an operating distance of 290mm. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183045
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http://dx.doi.org/10.1016/j.ijporl.2018.09.001DOI Listing
December 2018
13 Reads

ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells.

Photochem Photobiol 2019 Jan 23;95(1):345-354. Epub 2018 Nov 23.

Department of Microbiology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil.

The crucial role of DNA polymerase eta in protecting against sunlight-induced tumors is evidenced in Xeroderma Pigmentosum Variant (XP-V) patients, who carry mutations in this protein and present increased frequency of skin cancer. XP-V cellular phenotypes may be aggravated if proteins of DNA damage response (DDR) pathway are blocked, as widely demonstrated by experiments with UVC light and caffeine. However, little is known about the participation of DDR in XP-V cells exposed to UVA light, the wavelengths patients are mostly exposed. Read More

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http://doi.wiley.com/10.1111/php.13041
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http://dx.doi.org/10.1111/php.13041DOI Listing
January 2019
3 Reads

Differential corneal involvement in xeroderma pigmentosum.

Authors:
Sunita Chaurasia

Indian J Ophthalmol 2018 Nov;66(11):1623

Cornea and Anterior Segment Services, Tej Kohli Cornea Institute, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

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http://dx.doi.org/10.4103/ijo.IJO_667_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213660PMC
November 2018

Corneal edema in xeroderma pigmentosa.

Authors:
Sunita Chaurasia

Indian J Ophthalmol 2018 Nov;66(11):1622

Cornea and Anterior Segment Services, Tej Kohli Cornea Institute, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

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http://dx.doi.org/10.4103/ijo.IJO_469_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213657PMC
November 2018
1 Read

Interaction of polymorphisms in xeroderma pigmentosum group C with cigarette smoking and pancreatic cancer risk.

Oncol Lett 2018 Nov 23;16(5):5631-5638. Epub 2018 Aug 23.

Xinjiang Research Institute of Cancer Prevention and Control, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, P.R. China.

The aim of the present study was to evaluate the association between xeroderma pigmentosum group C (XPC) polymorphisms and pancreatic cancer (PC) risk. A total of 7 XPC tagging SNPs (tag-SNPs) were selected from the International HapMap Project Databases (rs2228001A/C, rs2470353G/C, rs2228000C/T, rs3731114C/G, rs3729587G/C, rs2607775C/G and rs3731055G/A) and were genotyped in 205 patients with PC and 230 non-cancer control subjects using a SNaPshot assay. The C allelic gene frequency of rs2470353 was higher in patients with PC compared with that in the control group (P=0. Read More

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http://dx.doi.org/10.3892/ol.2018.9350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176251PMC
November 2018

Ocular and Periocular Tumors in Xeroderma Pigmentosum: A Study of 120 Asian Indian Patients.

Am J Ophthalmol 2019 Feb 16;198:146-153. Epub 2018 Oct 16.

Ophthalmic Pathology Laboratory, L. V. Prasad Eye Institute, Hyderabad, India.

Purpose: We studied the incidence, treatment, and outcome of ocular and periocular tumors in patients with xeroderma pigmentosum (XP).

Design: Retrospective case series.

Methods: This single-institution study included 120 patients with XP who underwent intervention with excisional biopsy, enucleation, or orbital exenteration. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029394183059
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http://dx.doi.org/10.1016/j.ajo.2018.10.011DOI Listing
February 2019
19 Reads

Sirtuin 1-mediated deacetylation of XPA DNA repair protein enhances its interaction with ATR protein and promotes cAMP-induced DNA repair of UV damage.

J Biol Chem 2018 Dec 16;293(49):19025-19037. Epub 2018 Oct 16.

From the Markey Cancer Center and

Blunted melanocortin 1 receptor (MC1R) signaling promotes melanocyte genomic instability in part by attenuating cAMP-mediated DNA repair responses, particularly nucleotide excision repair (NER), which recognizes and clears mutagenic photodamage. cAMP-enhanced NER is mediated by interactions between the ataxia telangiectasia-mutated and Rad3-related (ATR) and xeroderma pigmentosum complementation group A (XPA) proteins. We now report a critical role for sirtuin 1 (SIRT1) in regulating ATR-mediated phosphorylation of XPA. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.RA118.003940
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http://dx.doi.org/10.1074/jbc.RA118.003940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295715PMC
December 2018
5 Reads

Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case.

J Pak Med Assoc 2018 Oct;68(10):1531-1534

Dow Medical College, Dow University of Health Sciences, Karachi.

We present the case of a 3-year old girl with clinical manifestations typical of XP-CS, an extremely rare combination of Xeroderma Pigmentosum and Cockayne Syndrome. She had a swelling above the upper lip and multiple brown spots on her face, neck, arms and back. She was globally delayed, deaf, dumb and photophobic. Read More

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October 2018
19 Reads

Effects of gene polymorphisms of metabolic enzymes on the association between red and processed meat consumption and the development of colon cancer; a literature review.

J Nutr Sci 2018 2;7:e26. Epub 2018 Oct 2.

Student Research Committee, Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

The role of environmental factors and genetic susceptibility in the development of colon cancer (CC) has been already proven, but the role of gene polymorphisms in modifying the risk of environmental factors such as nutritional factors is still unknown. This study aimed to investigate the effect of polymorphisms of involved genes in the association between red meat consumption and the development of CC. The present review was carried out using keywords such as polymorphism and/or protein and/or red meat and/or processed meat and/or colon cancer. Read More

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https://www.cambridge.org/core/product/identifier/S204867901
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http://dx.doi.org/10.1017/jns.2018.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176493PMC
October 2018
9 Reads

Lesion Sensing during Initial Binding by Yeast XPC/Rad4: Toward Predicting Resistance to Nucleotide Excision Repair.

Chem Res Toxicol 2018 Nov 22;31(11):1260-1268. Epub 2018 Oct 22.

NYU-ECNU Center for Computational Chemistry at New York University Shanghai , Shanghai 200062 , China.

Nucleotide excision repair (NER) excises a variety of environmentally derived DNA lesions. However, NER efficiencies for structurally different DNA lesions can vary by orders of magnitude; yet the origin of this variance is poorly understood. Our goal is to develop computational strategies that predict and identify the most hazardous, repair-resistant lesions from the plethora of such adducts. Read More

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http://pubs.acs.org/doi/10.1021/acs.chemrestox.8b00231
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http://dx.doi.org/10.1021/acs.chemrestox.8b00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247245PMC
November 2018
1 Read

Association of ERCC2 Gene Polymorphisms with Susceptibility to Diffuse Large B-Cell Lymphoma.

Med Sci Monit 2018 Oct 3;24:7015-7022. Epub 2018 Oct 3.

Department of Hematology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong, China (mainland).

BACKGROUND The objective of this study was to detect the association between ERCC excision repair 2, TFIIH core complex helicase subunit (ERCC2) gene polymorphisms and diffuse large B-cell lymphoma (DLBCL) susceptibility. MATERIAL AND METHODS This study used a case-control design. ERCC2 gene rs1799793 (Asp312Asn) and rs13181 (Lys751Gln) polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) both in DLBCL patients and healthy controls. Read More

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http://dx.doi.org/10.12659/MSM.908813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6179170PMC
October 2018
12 Reads

DNA Repair Gene (XPD, XRCC4, and XRCC1) Polymorphisms in Patients with Endometrial Hyperplasia: A Pilot Study.

Med Sci Monit Basic Res 2018 Oct 2;24:146-150. Epub 2018 Oct 2.

Department of Pathology, Medical School, Gaziantep University, Gaziantep, Turkey.

BACKGROUND In this study, we aimed to evaluate the association between endometrial hyperplasia and DNA repair gene (XPD, XRCC4, and XRCC1) polymorphisms. MATERIAL AND METHODS There were 114 cases enrolled in the study in 4 groups: simple endometrial hyperplasia (SH) (Group 1), complex endometrial hyperplasia without atypia (CH) (Group 2), complex atypical endometrial hyperplasia (CAH) (Group 3), and normal endometrium (NE) (Group 4). Of these cases, 37 cases had SH, 36 cases had CH, 16 cases had CAH, and 25 cases had NE. Read More

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https://basic.medscimonit.com/abstract/index/idArt/911041
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http://dx.doi.org/10.12659/MSMBR.911041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178876PMC
October 2018
4 Reads

Novel therapeutic approaches to xeroderma pigmentosum.

Authors:
J L Weon D A Glass

Br J Dermatol 2018 Sep 28. Epub 2018 Sep 28.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, U.S.A.

Background: The study of xeroderma pigmentosum has yielded unforeseen advances regarding how defects in the nucleotide excision repair pathway result in this devastating disease, but development of therapeutic strategies has trailed behind the mechanistic discoveries.

Objectives: This review aims to cover clinical presentation, molecular mechanisms and current management, and highlights more recent insights into targeting the deficiencies secondary to the DNA repair defects to prevent skin cancer and/or neurological degeneration.

Methods: This review article discusses novel therapeutic approaches to xeroderma pigmentosum that focus on metabolic defects downstream of nucleotide excision repair. Read More

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http://dx.doi.org/10.1111/bjd.17253DOI Listing
September 2018