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xeroderma pigmentosum

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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
#1
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
#2
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 9, 2017: Mathematical Biosciences
https://www.readbyqxmd.com/read/29024689/xeroderma-pigmentosum-diagnosis-using-a-flow-cytometry-based-nucleotide-excision-repair-assay
#3
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
#4
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
#5
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
#6
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/28977422/the-intricate-network-between-the-p34-and-p44-subunits-is-central-to-the-activity-of-the-transcription-dna-repair-factor-tfiih
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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/28860187/analysis-of-dna-binding-by-human-factor-xeroderma-pigmentosum-complementation-group-a-xpa-provides-insight-into-its-interactions-with-nucleotide-excision-repair-substrates
#16
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
https://www.readbyqxmd.com/read/28846868/transcription-coupled-repair-deficiency-protects-against-human-mutagenesis-and-carcinogenesis-personal-reflections-on-the-50th-anniversary-of-the-discovery-of-xeroderma-pigmentosum
#17
REVIEW
James E Cleaver
Xeroderma pigmentosum (XP) patients who lack the main damage recognition protein for global genome repair (GGR), XPC, have greatly increased skin cancer rates and elevated mutation frequencies originating from unrepaired ultraviolet photoproducts in the nontranscribed regions of the genome and in nontranscribed strands of expressed genes. But they show no increased mutations in transcribed strands. In contrast, cancer is absent from Cockayne syndrome (CS) patients that have defective transcription coupled repair (TCR) despite severe photosensitivity, CS patients remarkably show no elevation of UV induced mutagenesis implying that defective TCR may be protective against mutagenesis and carcinogenesis...
October 2017: DNA Repair
https://www.readbyqxmd.com/read/28843705/recurrent-conjunctival-atypical-fibroxanthoma-in-pigmentosum-xeroderma
#18
M Cerdà-Ibáñez, A Barreiro-González, H Barranco González, J Aviñó Martínez, M Évole-Buselli, M Á Harto-Castaño
CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion...
August 23, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28833524/trichothiodystrophy-complementation-group-a-complicated-with-squamous-cell-carcinoma
#19
T Takeichi, S Tomimura, Y Okuno, M Hamada, M Kono, K Sugiura, M Akiyama
There are three related, clinically defined disorders of DNA repair: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS).(1) Photosensitivity, neurological/developmental abnormalities, and skin cancer are important pathological features that can be used to distinguish between these three archetypes.(1,2) TTD is a rare, autosomal recessive disease characterized by brittle, sulfur-deficient hair and multisystem abnormalities.(3) This article is protected by copyright. All rights reserved...
August 22, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28832189/the-association-between-xpg-gene-polymorphism-and-gastric-cancer-risk
#20
Yanyan Su, Chong Yang, Zongxiang Zhang
PURPOSE: Studies exploring the association between the Xeroderma pigmentosum group G (XPG) gene polymorphisms and gastric cancer (GC) risk provide conflicting findings. Thus, this meta-analysis was performed. MATERIALS AND METHODS: The PubMed and EMBASE databases were comprehensively searched to identify studies for the inclusion in the meta-analysis. The strength of the association was evaluated by calculating pooled odds ratios and 95% confidence intervals. RESULTS: Nine case-control studies involving 3540 cases and 3953 controls were included in the meta-analysis, which revealed that the XPG rs751402 polymorphism is positively associated with GC risk and could be viewed as a risk factor of GC in three genetic models...
August 23, 2017: Genetic Testing and Molecular Biomarkers
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