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Xeroderma

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https://www.readbyqxmd.com/read/29217584/aging-and-neurodegeneration-are-associated-with-increased-mutations-in-single-human-neurons
#1
Michael A Lodato, Rachel E Rodin, Craig L Bohrson, Michael E Coulter, Alison R Barton, Minseok Kwon, Maxwell A Sherman, Carl M Vitzthum, Lovelace J Luquette, Chandri Yandava, Pengwei Yang, Thomas W Chittenden, Nicole E Hatem, Steven C Ryu, Mollie B Woodworth, Peter J Park, Christopher A Walsh
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)...
December 7, 2017: Science
https://www.readbyqxmd.com/read/29208038/genetic-investigation-of-xpa-gene-high-frequency-of-the-c-682c-t-mutation-in-moroccan-xp-patients-with-moderate-clinical-profile
#2
Zineb Kindil, Mohamed Amine Senhaji, Amina Bakhchane, Hicham Charoute, Soumia Chihab, Sellama Nadifi, Abdelhamid Barakat
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...
December 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29197837/bilateral-ocular-surface-squamous-neoplasia-with-bilateral-periocular-basal-cell-carcinoma-in-a-case-of-xeroderma-pigmentosum
#3
Rohit Agarwal, Bhavna Chawla, Mohamed Ibrahime Asif, Amar Pujari
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. Because of extensive disease in the right eye, orbital exenteration was performed, and for the left eye, a wide excision of the mass with triple freeze thaw cryo application to the margins followed by amniotic membrane grafting was done...
December 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29184429/topical-application-of-st266-reduces-uv-induced-skin-damage
#4
Linna Guan, Amanda Suggs, Emily Galan, Minh Lam, Elma D Baron
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. Acutely, UVR causes skin inflammation and DNA damage, which manifest as sunburn (erythema). ST266 is the secretome of proprietary amnion-derived cells that have been shown to reduce inflammation and accelerate healing of various wounds by promoting migration of keratinocytes and fibroblasts in preclinical animal studies...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29178624/clinical-and-genetic-characteristics-of-xeroderma-pigmentosum-in-nepal
#5
Pauline Espi, Sudip Parajuli, Meriem Benfodda, Anne-Sophie Lebre, Upama Paudel, Anne Grange, Virginie Grybek, Thomas Grange, Nadem Soufir, Florent Grange
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. Clinical data were collected using a standardized questionnaire. DNA was extracted from salivary samples and next generation sequencing (NGS) was conducted using a panel covering all 8 known XP genes (classical XP (XPA to XPG) and XP variant) and a skin cancer modifier gene, the melanocortin 1 receptor gene (MC1R)...
November 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29169765/whole-exome-sequencing-allows-the-identification-of-two-novel-groups-of-xeroderma-pigmentosum-in-tunisia-xp-d-and-xp-e-impact-on-molecular-diagnosis
#6
Mariem Ben Rekaya, Chokri Naouali, Olfa Messaoud, Meriem Jones, Yosra Bouyacoub, Majdi Nagara, Tommaso Pippucci, Haifa Jmel, Mariem Chargui, Manel Jerbi, Mohamed Alibi, Hamza Dallali, Anu Bashamboo, Kenneth McElreavey, Giovanni Romeo, Abdelhamid Barakat, Mohamed Zghal, Houda Yacoub-Youssef, Sonia Abdelhak
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. Second, to provide early molecular diagnosis for pre-symptomatic patient and finally to offer genetic counseling for related individuals...
November 2, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29148016/association-of-xpg-gene-rs751402-polymorphism-with-gastric-cancer-risk-a-meta-analysis-in-the-chinese-population
#7
Jun Liang, Ya-Yun Xu, Cheng Zhang, Qing-Rong Xia
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...
November 9, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29129631/binding-of-calcium-and-target-peptide-to-calmodulin-like-protein-cml19-the-centrin-2-of-arabidopsis-thaliana
#8
Valentina La Verde, Matteo Trande, Mariapina D'Onofrio, Paola Dominici, Alessandra Astegno
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...
November 9, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29124689/xeroderma-pigmentosa-group-a-xpa-nucleotide-excision-repair-and-regulation-by-atr-in-response-to-ultraviolet-irradiation
#9
Phillip R Musich, Zhengke Li, Yue Zou
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. Central among these is ataxia telangiectasia and Rad3-related (ATR), a protein kinase involved in intracellular signaling in response to DNA damage, especially DNA damage-induced replicative stresses...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29114686/modulation-of-xpc-peptide-on-binding-tb-3-to-euplotes-octocarinatus-centrin
#10
Enxian Shi, Wenlong Zhang, Yaqin Zhao, Binsheng Yang
Centrins are Ca(2+)-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 (Ca(2+) and Tb(3+)) on the peptide binding of Euplotes octocarinatus centrin (EoCen) by isothermal titration calorimetry (ITC) and fluorescence spectroscopy. ITC and tryptophan spectrofluorimetric titrations revealed that metal ions (Ca(2+) and Tb(3+)) could enhance the affinity between EoCen and the XPC peptide, and the enhanced effects were closely related to the ion potential of metal ions...
November 8, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29111769/xpc-deficiency-alters-cigarette-smoke-dna-damage-cell-fate-and-accelerates-emphysema-development
#11
Catherine R Sears, Huaxin Zhou, Matthew J Justice, Amanda J Fisher, Jacob Saliba, Isaac Lamb, Jessica Wicker, Kelly S Schweitzer, Irina Petrache
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...
November 7, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29105242/ercc4-variants-identified-in-a-cohort-of-patients-with-segmental-progeroid-syndromes
#12
Takayasu Mori, Matthew J Yousefzadeh, Maryam Faridounnia, Jessica X Chong, Fuki M Hisama, Louanne Hudgins, Gabriela Mercado, Erin A Wade, Amira S Barghouthy, Lin Lee, George M Martin, Deborah A Nickerson, Michael J Bamshad, Laura J Niedernhofer, Junko Oshima
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. Pathogenic variants in this gene cause xeroderma pigmentosum, XFE progeroid syndrome, Cockayne syndrome (CS), and Fanconi anemia...
November 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/29100394/effects-of-photodynamic-therapy-on-dermal-fibroblasts-from-xeroderma-pigmentosum-and-gorlin-goltz-syndrome-patients
#13
Alicia Zamarrón, Marta García, Marcela Del Río, Fernando Larcher, Ángeles Juarranz
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. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049208/association-between-the-polymorphisms-in-xpg-gene-and-gastric-cancer-susceptibility-in-chinese-populations-a-prisma-compliant-meta-analysis
#14
Jun Xia, Rulin Sun
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...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29044057/clinicodemographic-profile-and-treatment-outcome-in-patients-of-ocular-surface-squamous-neoplasia
#15
Rachna Meel, Rebika Dhiman, Murugesan Vanathi, Neelam Pushker, Radhika Tandon, Saranya Devi
PURPOSE: The aim is to study the clinicodemographic profile and treatment outcome of ocular surface squamous neoplasia (OSSN). METHODS: This was a retrospective observational study of 57 eyes (56 cases) with clinically diagnosed OSSN, presenting in our center over the past year. RESULTS: The median age of presentation was 55 years with male:female ratio being 4.5:1. Systemic predisposing conditions were xeroderma pigmentosa (1) postkidney transplant immunosuppression (1), and human immunodeficiency virus infection (1)...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29035087/xeroderma-pigmentosum-complementation-group-d-polymorphism-toward-lung-cancer-susceptibility-survival-and-response-in-patients-treated-with-platinum-chemotherapy
#16
Shweta Lawania, Navneet Singh, Digamber Behera, Siddharth Sharma
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...
October 16, 2017: Future Oncology
https://www.readbyqxmd.com/read/29024746/dynamics-of-dna-unwinding-by-helicases-with-frequent-backward-steps
#17
Ping Xie
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. We explain quantitatively the single-molecule data on probability of -1-bp step and mean dwell time of one step versus ATP concentration for XPD at fixed large external force applied to the ends of the DNA hairpin to unzip the hairpin...
October 10, 2017: Mathematical Biosciences
https://www.readbyqxmd.com/read/29024689/xeroderma-pigmentosum-diagnosis-using-a-flow-cytometry-based-nucleotide-excision-repair-assay
#18
Eiji Nakano, Seiji Takeuchi, Ryusuke Ono, Mariko Tsujimoto, Taro Masaki, Chikako Nishigori
No abstract text is available yet for this article.
October 9, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29018037/chromatin-remodeler-chd1-promotes-xpc-to-tfiih-handover-of-nucleosomal-uv-lesions-in-nucleotide-excision-repair
#19
Peter Rüthemann, Chiara Balbo Pogliano, Tamara Codilupi, Zuzana Garajovà, Hanspeter Naegeli
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. Immunoprecipitation of chromatin fragments revealed that CHD1 co-localizes in part with GG-NER factors...
November 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28991657/quantitative-analysis-of-brain-atrophy-in-patients-with-xeroderma-pigmentosum-group-a-carrying-the-founder-mutation-in-japan
#20
Takehiro Ueda, Fumio Kanda, Masahiro Nishiyama, Chikako Nishigori, Tatsushi Toda
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...
October 15, 2017: Journal of the Neurological Sciences
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