Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes.
Cancers
Rybicka, Magda M; Woziwodzka, Anna A; Sznarkowska, Alicja A; Romanowski, Tomasz T; Stalke, Piotr P; Dręczewski, Marcin M; Verrier, Eloi R ER; Baumert, Thomas F TF; Bielawski, Krzysztof Piotr KP
Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.
Genes
Santos, Luís S LS; Gomes, Bruno Costa BC; Bastos, Hélder N HN; Gil, Octávia M OM; Azevedo, Ana Paula AP; Ferreira, Teresa C TC; Limbert, Edward E; Silva, Susana N SN; Rueff, José J
A Comprehensive Evaluation of the Association between Polymorphisms in XRCC1, ERCC2, and XRCC3 and Prognosis in Hepatocellular Carcinoma: A Meta-Analysis.
Journal Of Oncology
Zhao, Yan Y; Zhao, Erjiang E; Zhang, Junhui J; Chen, Yuanyuan Y; Ma, Junli J; Li, Hailiang H
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: XRCC4: 894-7G>A; rs1805377
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Association Between Twelve Polymorphisms in Five X-ray Repair Cross-complementing Genes and the Risk of Urological Neoplasms: A Systematic Review and Meta-Analysis.
Ebiomedicine
Zhang, Meng M; Li, Wanzhen W; Hao, Zongyao Z; Zhou, Jun J; Zhang, Li L; Liang, Chaozhao C
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization.
Genetic polymorphisms modify bladder cancer recurrence and survival in a USA population-based prognostic study.
Bju International
Andrew, Angeline S AS; Gui, Jiang J; Hu, Ting T; Wyszynski, Asaf A; Marsit, Carmen J CJ; Kelsey, Karl T KT; Schned, Alan R AR; Tanyos, Sam A SA; Pendleton, Eben M EM; Ekstrom, Rebecca M RM; Li, Zhongze Z; Zens, Michael S MS; Borsuk, Mark M; Moore, Jason H JH; Karagas, Margaret R MR
Distinct cancer-specific survival in metastatic prostate cancer patients classified by a panel of single nucleotide polymorphisms of cancer-associated genes.
A replicated association between polymorphisms near TNFα and risk for adverse reactions to radiotherapy.
British Journal Of Cancer
Talbot, C J CJ; Tanteles, G A GA; Barnett, G C GC; Burnet, N G NG; Chang-Claude, J J; Coles, C E CE; Davidson, S S; Dunning, A M AM; Mills, J J; Murray, R J S RJ; Popanda, O O; Seibold, P P; West, C M L CM; Yarnold, J R JR; Symonds, R P RP
An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs.
Dna Repair
Yu, Hongping H; Zhao, Hui H; Wang, Li-E LE; Han, Younghun Y; Chen, Wei V WV; Amos, Christopher I CI; Rafnar, Thorunn T; Sulem, Patrick P; Stefansson, Kari K; Landi, Maria Teresa MT; Caporaso, Neil N; Albanes, Demetrius D; Thun, Michael M; McKay, James D JD; Brennan, Paul P; Wang, Yufei Y; Houlston, Richard S RS; Spitz, Margaret R MR; Wei, Qingyi Q
DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.
Neuro-Oncology
Rajaraman, Preetha P; Hutchinson, Amy A; Wichner, Sara S; Black, Peter M PM; Fine, Howard A HA; Loeffler, Jay S JS; Selker, Robert G RG; Shapiro, William R WR; Rothman, Nathaniel N; Linet, Martha S MS; Inskip, Peter D PD
Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
Leukemia
Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR
Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Margulis, Vitaly V; Lin, Jie J; Yang, Hushan H; Wang, Wei W; Wood, Christopher G CG; Wu, Xifeng X
Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
Blood
Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
American Journal Of Human Genetics
Wu, Xifeng X; Gu, Jian J; Grossman, H Barton HB; Amos, Christopher I CI; Etzel, Carol C; Huang, Maosheng M; Zhang, Qing Q; Millikan, Randal E RE; Lerner, Seth S; Dinney, Colin P CP; Spitz, Margaret R MR