6,179 results match your criteria Xeroderma Pigmentosum


Characterization of putative proteins encoded by variable ORFs in white spot syndrome virus genome.

BMC Struct Biol 2019 Apr 18;19(1). Epub 2019 Apr 18.

Applied Molecular Biology Lab - LAPLIC, Department of Biochemistry, Federal University of Rio Grande do Norte, Natal, RN, Brazil.

Background: White Spot Syndrome Virus (WSSV) is an enveloped double-stranded DNA virus which causes mortality of several species of shrimp, being considered one of the main pathogens that affects global shrimp farming. This virus presents a complex genome of ~ 300 kb and viral isolates that present genomes with great identity. Despite this conservation, some variable regions in the WSSV genome occur in coding regions, and these putative proteins may have some relationship with viral adaptation and virulence mechanisms. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12900-019-0106-yDOI Listing

[Xeroderma Pigmentosum].

Brain Nerve 2019 Apr;71(4):394-399

Division of Dermatology, Kobe University Graduate School of Medicine.

Xeroderma pigmentosum is a DNA repair disorder characterized by the occurrence of pigmented freckles and skin cancers on sun-exposed areas. Additionally, more than 50% of patients present with progressive degenerative neurological symptoms. Eight clinical subtypes of this condition are known, and neurological symptoms can be seen in XP-A, B, D, F, G complementation groups. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11477/mf.1416201283DOI Listing
April 2019
2 Reads

Heterogeneity and overlaps in nucleotide excision repair (NER) disorders.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

Istituto di Genetica Molecolare (IGM), Consiglio Nazionale delle Ricerche, Pavia, Italy.

Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the cancer-prone xeroderma pigmentosum and the neurodevelopmental/progeroid conditions trichothiodystrophy, Cockayne syndrome and cerebro-oculo-facio-skeletal-syndrome. A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different genes associated with the same disease. Read More

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13545
Publisher Site
http://dx.doi.org/10.1111/cge.13545DOI Listing
March 2019
1 Read

Asp1104His polymorphism increases colorectal cancer risk especially in Asians.

Am J Transl Res 2019 15;11(2):1020-1029. Epub 2019 Feb 15.

Department of Colorectal and Anal Surgery, The First Affiliated Hospital of Zhengzhou University Zhengzhou 450052, Henan, China.

Xeroderma pigmentosum group G (XPG) protein is a pivotal element of the nucleotide excision repair pathway. gene single nucleotide polymorphisms (SNPs) have been shown to confer colorectal cancer (CRC) susceptibility. In this study, we further investigated the role of Asp1104His (rs17655 G > C) in on CRC risk. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413257PMC
February 2019
2 Reads

Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.

Nat Commun 2019 03 20;10(1):1288. Epub 2019 Mar 20.

Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch Cedex, C.U. Strasbourg, France.

The TFIIH subunit XPB is involved in combined Xeroderma Pigmentosum and Cockayne syndrome (XP-B/CS). Our analyses reveal that XPB interacts functionally with KAT2A, a histone acetyltransferase (HAT) that belongs to the hSAGA and hATAC complexes. XPB interacts with KAT2A-containing complexes on chromatin and an XP-B/CS mutation specifically elicits KAT2A-mediated large-scale chromatin decondensation. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41467-019-09270-2
Publisher Site
http://dx.doi.org/10.1038/s41467-019-09270-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426930PMC
March 2019
5 Reads

Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis.

Exp Dermatol 2019 Mar 18. Epub 2019 Mar 18.

Department of Internal Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.

We aimed to evaluate whether variants in repair (XPD Asp312Asn, XPD Lys751Gln) and detoxification (GSTM1, GSTT1) genes alter risk, clinicopathological aspects and survival of cutaneous melanoma (CM). Genotyping was performed in 229 CM patients and 258 controls. Individuals with XPD 312Asp/Asn or Asn/Asn plus GSTT1 null genotype were under 2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/exd.13914DOI Listing
March 2019
1 Read

Loss of epidermal hypoxia-inducible factor-1α blocks UVB-induced tumorigenesis by affecting DNA repair capacity and oxidative stress.

J Invest Dermatol 2019 Mar 13. Epub 2019 Mar 13.

Univ. Bordeaux, Inserm, BMGIC, U1035, F-33000 Bordeaux, France; Centre de Référence pour les Maladies Rares de la Peau, CHU de Bordeaux, France. Electronic address:

Hypoxia-inducible factor-1α (HIF-1α) is constitutively expressed in mouse and human epidermis. It plays a crucial role in skin physiology including the response of keratinocytes to ultraviolet (UV) radiation. However, little information is available about its role in photocarcinogenesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.01.035DOI Listing
March 2019
1 Read
7.216 Impact Factor

Skin cancers in patients of skin phototype V or VI with xeroderma pigmentosum type C (XP-C): A retrospective study.

Ann Dermatol Venereol 2019 Mar 8;146(3):192-203. Epub 2019 Mar 8.

Service de dermatologie, CHU de La Réunion, 97400 Saint-Denis, La Réunion, France.

Background: Xeroderma pigmentosum (XP) is a rare genetic disease comprising 7 subgroups, A to G, all of which are associated with early onset of several forms of skin cancer. Our main objective was to determine the prevalence of skin cancers in a cohort of dark-skinned XP-C patients in Mayotte.

Patients And Methods: A single-centre cohort consisting of all XP patients was followed in the island of Mayotte from December 2015 to May 2017 by dermatologists from the University Hospital of Saint-Denis (Reunion) during the course of dermatological missions. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01519638193003
Publisher Site
http://dx.doi.org/10.1016/j.annder.2018.11.013DOI Listing
March 2019
1 Read

Gene polymorphism of DNA repair gene X-ray repair cross complementing group 1 and xeroderma pigmentosum group D and environment interaction in non-small-cell lung cancer for Chinese nonsmoking female patients.

Kaohsiung J Med Sci 2019 Jan;35(1):39-48

Department of Medical Oncology in Section One, Inner Mongolia Chifeng Hospital, Chifeng, China.

An association between genetic polymorphisms in encoding X-ray repair cross complementing group 1 (XRCC1) and encoding xeroderma pigmentosum group D (XPD) and risks of non-small-cell lung cancer (NSCLC) in East Chinese Han population has been observed. Herein we hypothesized that genetic polymorphisms in these two DNA repair genes are likely to be important in the NSCLC in Chinese nonsmoking female patients. We recruited 327 nonsmoking female patients with NSCLC and 342 individuals with benign lung diseases or healthy controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/kjm2.12007DOI Listing
January 2019
2 Reads

Self-assembled Lipid Nanoparticles for Ratiometric Codelivery of Cisplatin and siRNA Targeting XPF to Combat Drug Resistance in Lung Cancer.

Chem Asian J 2019 Mar 6. Epub 2019 Mar 6.

Department of Chemistry, City University of Hong Kong, 83 Tat Chee Ave, Kowloon Tong, Hong Kong SAR, China.

DNA damage repair through the nucleotide excision repair (NER) pathway is one of the major reasons for the decreased antitumor efficacy of platinum-based anticancer drugs that have been widely applied in the clinic. Inhibiting the intrinsic NER function may enhance the antitumor activity of cisplatin and conquer cisplatin resistance. Herein, we report the design, optimization, and application of a self-assembled lipid nanoparticle (LNP) system to simultaneously deliver a cisplatin prodrug together with siRNA targeting endonuclease xeroderma pigmentosum group F (XPF), a crucial component in the NER pathway. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/asia.201900005DOI Listing
March 2019
1 Read

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.

Front Genet 2019 14;10:111. Epub 2019 Feb 14.

Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, Université de Tunis El Manar, Tunis, Tunisia.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder due to a defect in the nucleotide excision repair (NER) DNA repair pathway, characterized by severe sunburn development of freckles, premature skin aging, and susceptibility to develop cancers at an average age of eight. XP is an example of accelerated photo-aging. It is a genetically and clinically heterogeneous disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2019.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383105PMC
February 2019
3 Reads

Nucleotide excision repair capacity increases during differentiation of human embryonic carcinoma cells into neurons and muscle cells.

J Biol Chem 2019 Apr 26;294(15):5914-5922. Epub 2019 Feb 26.

From the Department of Biochemistry and Biophysics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599,

Embryonic stem cells can self-renew and differentiate, holding great promise for regenerative medicine. They also employ multiple mechanisms to preserve the integrity of their genomes. Nucleotide excision repair, a versatile repair mechanism, removes bulky DNA adducts from the genome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.RA119.007861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463700PMC
April 2019
1 Read

TFIIH: A multi-subunit complex at the cross-roads of transcription and DNA repair.

Adv Protein Chem Struct Biol 2019 10;115:21-67. Epub 2019 Feb 10.

Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch Cedex, C.U. Strasbourg, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France; Université de Strasbourg, Illkirch, France. Electronic address:

Transcription factor IIH (TFIIH) is a multiprotein complex involved in both eukaryotic transcription and DNA repair, revealing a tight connection between these two processes. Composed of 10 subunits, it can be resolved into a 7-subunits core complex with the XPB translocase and the XPD helicase, and the 3-subunits kinase complex CAK, which also exists as a free complex with a distinct function. Initially identified as basal transcription factor, TFIIH also participates in transcription regulation and plays a key role in nucleotide excision repair (NER) for opening DNA at damaged sites, lesion verification and recruitment of additional repair factors. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/bs.apcsb.2019.01.003DOI Listing
February 2019
3.036 Impact Factor

Successful Treatment of Generalized Eruptive Keratoacanthoma of Grzybowski with Acitretin.

Dermatol Ther (Heidelb) 2019 Feb 21. Epub 2019 Feb 21.

Department of Dermatology, Saint-Louis Hospital, AP-HP, INSERM U976, University of Paris 7 Paris Diderot, Paris, France.

Introduction: Keratoacanthomas (KA) are common cutaneous skin tumors originating from the hair follicles. Unlike squamous cell carcinoma, KA can regress spontaneously and have a benign evolution. Solitary KA is the most common form but familial multiple KA (Ferguson-Smith type), genetically predisposed KA (such as in xeroderma pigmentosum, or Muir-Torre syndrome), or sporadic multiple eruptive KA (Grzybowski type) have been described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13555-019-0287-0DOI Listing
February 2019
5 Reads

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

View Article

Download full-text PDF

Source
http://bmjopen.bmj.com/lookup/doi/10.1136/bmjopen-2018-02444
Publisher Site
http://dx.doi.org/10.1136/bmjopen-2018-024445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377541PMC
February 2019
5 Reads

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

Gene 2019 May 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2019.02.018DOI Listing
May 2019
5 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1049732319826561DOI Listing
February 2019
9 Reads

Fibroblast 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 complementation group 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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_1319_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376802PMC
February 2019
6 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369448PMC
February 2019
6 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

View Article

Download full-text PDF

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

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 Apr;99(4):360-369

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3123DOI Listing
April 2019
11 Reads

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

Respir Investig 2019 Mar 7;57(2):111-121. 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22125345183011
Publisher Site
http://dx.doi.org/10.1016/j.resinv.2018.11.005DOI Listing
March 2019
10 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

View Article

Download full-text PDF

Source
http://www.spandidos-publications.com/10.3892/or.2019.6959
Publisher Site
http://dx.doi.org/10.3892/or.2019.6959DOI Listing
March 2019
11 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://scripts.iucr.org/cgi-bin/paper?S2053230X18016990
Publisher Site
http://dx.doi.org/10.1107/S2053230X18016990DOI Listing
January 2019
15 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

View Article

Download full-text PDF

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

Predictive Value of Two Polymorphisms of ERCC2, rs13181 and rs1799793, in Clinical Outcomes of Chemotherapy in Gastric Cancer Patients: A Meta-Analysis.

Dis Markers 2018 19;2018:3947626. Epub 2018 Nov 19.

Affiliated Tumor Hospital of Zhengzhou University, Henan Tumor Hospital, Zhengzhou, Henan 450008, China.

Background: Several researchers have investigated the relationship between ERCC2 rs13181 and rs1799793 polymorphisms and chemotherapy efficacy in terms of tumour response and prognosis in gastric patients. However, the published data have shown inconsistencies.

Methods: PubMed, Elsevier, and Chinese National Knowledge Infrastructure databases were searched for relevant articles published before August 1, 2017. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/3947626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276480PMC
April 2019
1 Read

PIBIDS syndrome in two Brazilian siblings.

BMJ Case Rep 2018 Dec 22;11(1). Epub 2018 Dec 22.

Department of Genetics, Universidade Federal do Parana, Curitiba, Brazil.

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2017-223744DOI Listing
December 2018
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canlet.2018.12.004DOI Listing
March 2019
4 Reads

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

View Article

Download full-text PDF

Source
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 01 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/php.13052DOI Listing
January 2019
2 Reads

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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

Polymorphisms in XPC gene and risk for prostate cancer.

Mol Biol Rep 2019 Feb 14;46(1):1117-1125. 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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11033-018-4572-2
Publisher Site
http://dx.doi.org/10.1007/s11033-018-4572-2DOI Listing
February 2019
13 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000013358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310529PMC
December 2018
16 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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.preghy.2018.09.008DOI Listing
October 2018
5 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamadermatol.2018.4473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439575PMC
December 2018
18 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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bph.14557
Publisher Site
http://dx.doi.org/10.1111/bph.14557DOI Listing
November 2018
15 Reads