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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
October 10, 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
#7
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
https://www.readbyqxmd.com/read/28988442/dramatic-response-to-nivolumab-in-xeroderma-pigmentosum-skin-tumor
#8
Fanny Chambon, Sophie Osdoit, Kelly Bagny, Anne Moro, Jacqueline Nguyen, Yves Réguerre
We report the case of a 6-year-old female with xeroderma pigmentosum (XP) who developed a nonoperable scalp tumor, treated with anti-programmed cell death protein 1 (anti-PD-1) therapy (nivolumab). She presented with a sarcomatoid carcinoma of the scalp with bone lysis as well as vascular and meningeal contact. Nivolumab was initiated because it has emerged as a promising immunotherapy. We observed a dramatic tumor response with excellent tolerance. However, while on nivolumab therapy she developed two large skin melanomas and several squamous cell carcinomas, which have been resected...
October 8, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28984139/neurological-improvement-of-perineural-and-leptomeningeal-spread-of-squamous-cell-carcinoma-treated-with-intrathecal-chemotherapy-and-systemic-egfr-inhibition
#9
Vincent Alexander van Vugt, Marlon Garzo Saria, Andres Javier, Navin Kesari, Tiffany Turpin, Santosh Kesari
Squamous cell carcinoma (SCC) is a common cancer of the skin. Risk factors include fair skin, excessive sun and ultraviolet light exposure, and history of xeroderma pigmentosa. Perineural invasion (PNI), an uncommon manifestation of SCC, involves microscopic tumor cells invading various layers of the nerve sheath. It is associated with a poorer prognosis. Standard treatment for PNI includes radiation therapy. Here, we describe a case an older gentleman with a history of SCC with PNI successfully treated with erlotinib and intrathecal chemotherapy...
October 6, 2017: CNS Oncology
https://www.readbyqxmd.com/read/28977422/the-intricate-network-between-the-p34-and-p44-subunits-is-central-to-the-activity-of-the-transcription-dna-repair-factor-tfiih
#10
Laura Radu, Elisabeth Schoenwetter, Cathy Braun, Julien Marcoux, Wolfgang Koelmel, Dominik R Schmitt, Jochen Kuper, Sarah Cianférani, Jean M Egly, Arnaud Poterszman, Caroline Kisker
The general transcription factor IIH (TFIIH) is a multi-protein complex and its 10 subunits are engaged in an intricate protein-protein interaction network critical for the regulation of its transcription and DNA repair activities that are so far little understood on a molecular level. In this study, we focused on the p44 and the p34 subunits, which are central for the structural integrity of core-TFIIH. We solved crystal structures of a complex formed by the p34 N-terminal vWA and p44 C-terminal zinc binding domains from Chaetomium thermophilum and from Homo sapiens...
August 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28974143/structural-dynamics-and-interactions-of-xeroderma-pigmentosum-complementation-group-a-xpa98-210-with-damaged-dna
#11
Sushmita Pradhan, Venkata Satish Kumar Mattaparthi
Nucleotide Excision Repair (NER) in higher organisms repair massive DNA abrasions caused by ultra-violet (UV) rays, and various mutagens, where Xeroderma Pigmentosum group A (XPA) protein is known to be involved in damage recognition step. Any mutations in XPA cause classical Xeroderma Pigmentosum (XP) disease. The extent to which XPA is required in the NER is still unclear. Here, we present the comparative study on the structural and conformational changes in globular DNA binding domain of XPA98-210 in DNA bound and DNA free state...
October 4, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28952280/a-polymorphism-located-near-pmaip1-noxa-gene-influences-susceptibility-to-hodgkin-lymphoma-development-in-south-india
#12
Dimpal N Thakkar, Sunitha Kodidela, Selvarajan Sandhiya, Biswajit Dubashi, Steven Aibor Dkhar
Background: Single nucleotide polymorphisms (SNPs) in DNA repair and Toll-like receptor (TLR) genes have been reported to be associated with Hodgkin Lymphoma (HL) risk. Since such associations may be ethnicity dependent, polymorphisms in TLR4 rs1554973, Xeroderma pigmentosum C (XPC) rs2228000, rs2228001 and a variant near PMAIP1/Noxa gene rs8093763 were here investigated with regard to HL susceptibility in a south Indian population. Normative frequencies of SNPs were established and compared with data for 1000 genome populations...
September 27, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28933851/design-and-structure-guided-development-of-novel-inhibitors-of-the-xeroderma-pigmentosum-group-a-xpa-protein-dna-interaction
#13
Navnath S Gavande, Pamela VanderVere-Carozza, Akaash K Mishra, Tyler L Vernon, Katherine S Pawelczak, John J Turchi
XPA is a unique and essential protein required for the nucleotide excision DNA repair pathway and represents a therapeutic target in oncology. Herein, we are the first to develop novel inhibitors of the XPA-DNA interaction through structure-guided drug design efforts. Ester derivatives of the compounds 1 (X80), 22, and 24 displayed excellent inhibitory activity (IC50 of 0.82 ± 0.18 μM and 1.3 ± 0.22 μM, respectively) but poor solubility. We have synthesized novel amide derivatives that retain potency and have much improved solubility...
September 21, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28927037/xrcc1-and-xpd-polymorphisms-and-their-relation-to-the-clinical-course-in-hepatocarcinoma-patients
#14
Qinghai Guan, Zhiqiang Chen, Qiangpu Chen, Xuting Zhi
In this study genotyping of hepatocellular carcinoma (HCC) patients was conducted to detect polymorphisms on the X-ray repair cross-complementing 1 (XRCC1) and xeroderma pigmentosum complementary group D (XPD) genes and analyze the relationship of their presence with the clinical features of the cancer. A total of 172 patients with HCC were selected in Qilu Hospital, Shandong University, from January 2010 to September 2011. All patients underwent resection of HCC and no tumor metastases were found. Peripheral venous blood samples (3-5 ml) were collected from the patients to extract genomic DNA...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28916831/the-melanocortin-signaling-camp-axis-accelerates-repair-and-reduces-mutagenesis-of-platinum-induced-dna-damage
#15
Stuart G Jarrett, Katharine M Carter, Brent J Shelton, John A D'Orazio
Using primary melanocytes and HEK293 cells, we found that cAMP signaling accelerates repair of bi- and mono-functional platinum-induced DNA damage. Elevating cAMP signaling either by the agonistic MC1R ligand melanocyte stimulating hormone (MSH) or by pharmacologic cAMP induction by forskolin enhanced clearance of intrastrand cisplatin-adducts in melanocytes or MC1R-transfected HEK293 cells. MC1R antagonists human beta-defensin 3 and agouti signaling protein blocked MSH- but not forskolin-mediated enhancement of platinum-induced DNA damage...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28902838/the-cryo-electron-microscopy-structure-of-human-transcription-factor-iih
#16
Basil J Greber, Thi Hoang Duong Nguyen, Jie Fang, Pavel V Afonine, Paul D Adams, Eva Nogales
Human transcription factor IIH (TFIIH) is part of the general transcriptional machinery required by RNA polymerase II for the initiation of eukaryotic gene transcription. Composed of ten subunits that add up to a molecular mass of about 500 kDa, TFIIH is also essential for nucleotide excision repair. The seven-subunit TFIIH core complex formed by XPB, XPD, p62, p52, p44, p34, and p8 is competent for DNA repair, while the CDK-activating kinase subcomplex, which includes the kinase activity of CDK7 as well as the cyclin H and MAT1 subunits, is additionally required for transcription initiation...
September 21, 2017: Nature
https://www.readbyqxmd.com/read/28894662/acellular-dermal-matrix-treating-periocular-melanoma-in-a-patient-with-xeroderma-pigmentosa
#17
Kamlen Pillay, Saleigh Adams, Laura Vandermaesen, Donald Anthony Hudson
We report a 7-year-old girl with xeroderma pigmentosum (XP), who presented in our clinic with a large melanoma (35 × 50 × 20 mm, Breslow depth 18 mm) in the zygomatic-malar area. Palliative surgery was performed to maintain her residual vision and to reduce the pain caused by the compression of local structures. Because of the limited access of autologous skin grafts in pediatric patients with XP who are severely affected, we opted to use an acellular dermal matrix. There was 100% graft uptake, and the pain due to compression by the tumor was alleviated...
August 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28881835/xpg-gene-rs751402-c-t-polymorphism-and-cancer-risk-evidence-from-22-publications
#18
Haixia Zhou, Ting-Yan Shi, Wenwen Zhang, Qiwen Li, Jinhong Zhu, Jing He, Jichen Ruan
The Xeroderma pigmentosum group G (XPG) gene promotes recognition and excision of damaged DNA during the DNA repair process. We conducted a comprehensive search of the MEDLINE, EMBASE, and Chinese Biomedical databases for publications evaluating the association XPG gene rs751402 C>T polymorphism and overall cancer risk. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were adopted to assess the strength of the association. A total of 22 publications encompassing 10538 cases and 10511 control subjects were included in the final meta-analysis...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28871434/cutaneous-and-mucosal-manifestations-of-sj%C3%A3-gren-s-syndrome
#19
REVIEW
Elena Generali, Antonio Costanzo, Carlo Mainetti, Carlo Selmi
Sjögren's syndrome is currently considered an "autoimmune epithelitis," as exocrine glands, especially salivary and lacrimal, are progressively destructed by an immune-mediated process associated with specific serum autoantibodies and local lymphocyte infiltrate. Xerostomia remains a key complain in patients with Sjögren's syndrome but should be evaluated also for other causes such as xerogenic medications, followed by radiation and chemotherapy for head and neck cancers, hormone disorders, infections, or other connective tissue diseases...
September 4, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28860187/analysis-of-dna-binding-by-human-factor-xeroderma-pigmentosum-complementation-group-a-xpa-provides-insight-into-its-interactions-with-nucleotide-excision-repair-substrates
#20
Norie Sugitani, Markus W Voehler, Michelle S Roh, Agnieszka M Topolska-Woś, Walter J Chazin
Xeroderma pigmentosum (XP) complementation group A (XPA) is an essential scaffolding protein in the multiprotein nucleotide excision repair (NER) machinery. The interaction of XPA with DNA is a core function of this protein; a number of mutations in the DNA-binding domain (DBD) are associated with XP disease. Although structures of the central globular domain of human XPA and data on binding of DNA substrates have been reported, the structural basis for XPA's DNA-binding activity remains unknown. X-ray crystal structures of the central globular domain of yeast XPA (Rad14) with lesion-containing DNA duplexes have provided valuable insights, but the DNA substrates used for this study do not correspond to the substrates of XPA as it functions within the NER machinery...
October 13, 2017: Journal of Biological Chemistry
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