Results 51 to 60 of about 1,974,376 (233)
ADAMTS13 synonymous and non-synonymous variants investigated in this study.
, 2012 *Synonymous ADAMTS13 variants.**Based on SwissProt annotation of domains and regions.Anton A. Komar (154543), Jordan Newell (154512), Zachary A. Hing (154493), Nathan C. Edwards (154490), Teresa M. Przytycka (17022), William Plum (154511), Noam Shomron (86157), Avital Perry (154497), Chava Kimchi-Sarfaty (154547), Idit Kosti (114827), Geetha S. (154517), Adam Blaisdell (154502), Yael Mandel-Gutfreund (13342), Vahan Grigoryan (154530), David B. Kopelman (154506), Aaron Shapiro (154520), Zuben E. Sauna (154537), Robert Fathke (154509), Chinyere Okunji (154525), Raheleh Salari (138728), Courtni E. Allen (154514) +20 morecore +1 more sourceDeep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [PDF]
, 2013 Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These Vermeire, S, Richard H. Duerr (107855), Steve R. Brant, Barclay, M, Sharma, Y., Alikashani, Azadeh, Rutgeerts, P, Colombel, JF, Philippe Goyette, Franke, Andre,, Gautam Goel (457889), Sharma, Yashoda,, Targan, SR, Bresso, Francesca,, Lawrance, I, Ken Sin Lo (457887), Xavier, Ramnik, Jonas Halfvarson, Levine, A, International IBD Genetics Consortium, [missing], McGovern, Dermot P. B., Lo, KS, Regueiro, M, Ellinghaus, David, Stevens, Christine,, International IBD Genetics Consortium, Ahmad, T, D'Inca, R, Bitton, A., Ramnik J. Xavier (153776), Sharma, Y, Lo, K.S., International, I.B.D.G.C., Judy H Cho, Silverberg, MS, Franke, A., Beaudoin, Melissa,, Goel, G, Griffiths, AM, Törkvist, L, Quebec IBD Genetics Consortium, [missing], Azadeh Alikashani (457888), Caroline Lagacé, Weersma, Rinse K., D'Amato, M., Glas, J, Sharma, Yashoda, Weersma, Rinse K.,, Philip L Schumm, Lettre, G., Mowat, Craig; id_orcid, Panés, J, Gautam Goel, Ellinghaus, D., Stevens, C., Beaudoin, Melissa, Jostins, L, Vermeire, S., Guthery, SL, Annese, V, Bis, JC, Lettre, Guillaume, Mélissa Beaudoin, Radford-Smith, G., Azadeh Alikashani, Duerr, RH, Lagacé, C, Boucher, Gabrielle,, Radford-Smith, GL, Newman, W, Florin, T, Phillips, A, Philip L. Schumm (457892), Guillaume Lettre (163230), Weersma, R.K., Gearry, R, Goyette, P., van Gossum, A, Rioux, J.D., Silverberg, Mark S., Lee, J, Vermeire, Severine, Franchimont, Denis, Yashoda Sharma, Mark S Silverberg, Goel, Gautam,, Mauro D'Amato (191109), Daly, Mark J.,, Georges, M, Latiano, A, Duerr, R.H., Proctor, DD, Quebec IBD Genetics Consortium, Duerr, Richard H., Begun, Jakob,, Schreiber, Stefan, John D Rioux, Stevens, Christine, Bresso, F, Cho, Judy H., Schreiber, S., Leif Törkvist (191104), Rivas, M. A., Severine Vermeire, McGovern, D.P.B., Weersma, Rinse K.; id_orcid, Ladouceur, Martin,, Mitrovic, M, Halfvarson, J., Laukens, D, Brant, Steve R., Halfvarson, J, Halfvarson, Jonas, David Ellinghaus (87596), ?, ?, Yashoda Sharma (362205), , K.S. lo, Parkes, M, Mark J Daly, Vito Annese (212128), Lo, Ken Sin,, Rioux, JD, Guillaume Lettre, Manuel A. Rivas, Philip L. Schumm, Goyette, P, Silverberg, M.S., et al., Schumm, PL, Bitton, Alain, Goel, G., Brand, S, Xavier, Ramnik J.,, Christine Stevens (401796), John D. Rioux, Aumais, G, Martin Ladouceur (144366), Cohen, A, Van Gossum, André, Rivas, M.A., Cho, JH, Rivas, Manuel A.,, Cottone, M, Steve R Brant, Ramnik J Xavier, Schumm, Philip L.,, Ken Sin Lo, Cho, Judy H.,, Palmieri, O, Jakob Begun, Gabrielle Boucher, Xavier, R.J., Christine Stevens, Lettre, G, Halfvarson, Jonas,, Brant, S.R., McGovern, Dermot P. B.,, Daly, Mark J., Manuel A Rivas, Potocnik, U, Stevens, C, Begun, J., Philippe Goyette (215465), Ladouceur, M, Bitton, Alain,, Silverberg, Mark S.,, Dermot P B McGovern, McGovern, DPB, Lo, Ken Sin, Alain Bitton (259250), Balschun, T, Prescott, NJ, Boucher, Gabrielle, Anderson, CA, Bresso, F., Schreiber, S, Annese, Vito,, Lo, K. S., International IBD Genetics Consortium,, Schreiber, Stefan,, Francesca Bresso, Mark S. Silverberg, Montgomery, GW, Ladouceur, M., Lees, CW, David Ellinghaus, Mansfield, JC, Mathew, CG, Judy H. Cho, Kugathasan, S, Caroline Lagacé (215515), Franke, Andre, Satsangi, Jack, Weersma, RK, Bresso, Francesca, Mauro D'Amato, Ellinghaus, D, John D. Rioux (215621), McGovern, D.P., Lagace, C., D'Amato, Mauro, Lemann, M, Franke, A, Gabrielle Boucher (215508), Alikashani, Azadeh,, Begun, Jakob, Graham Radford-Smith, Lettre, Guillaume,, Leif Törkvist, Alain Bitton, Mark J. Daly, Deslandres, C, Mowat, C, Steinhart, AH, NIDDK IBD Genetics Consortium, [missing], Xavier, RJ, Boucher, G, Libioulle, C, Lees, Charlie, Rinse K. Weersma (131692), Richard H Duerr, Schumm, P.L., Ellinghaus, David,, Judy H. Cho (159806), Goel, Gautam, Martin Ladouceur, Kullak-Ublick, G, Törkvist, Leif,, Vito Annese, Lagace, Caroline,, D'Amato, Mauro,, Jakob Begun (273749), Begun, J, Alikashani, A., Annese, Vito, Brant, Steve R.,, Int IBD Genetics Consortium, Ponsioen, CY, Ladouceur, Martin, Graham Radford-Smith (457891), Radford-Smith, Graham L., Duerr, Richard H.,, Daly, M.J., Beaudoin, M., Goyette, Philippe, Torkvist, L., Lahaie, R, Dermot P. B. McGovern (179863), Rivas, Manuel A., Brant, SR, Edwards, C, Bayless, TM, Hakonarson, H, Ramnik J. Xavier, Gibson, Greg, Stefan Schreiber, Radford-Smith, Graham,, Louis, E, Mark S. Silverberg (179888), Annese, V., Beaudoin, M, Bernard, EJ, de Jong, DJ, Rivas, MA, Buning, C, Jong, D.J. de, Manuel A. Rivas (228371), Dermot P. B. McGovern, Haritunians, T, Goyette, Philippe,, Consortium, N.I.G., Rinse K. Weersma, Cho, J.H., Baldassano, RN, Mark J. Daly (210204), Andre Franke (77511), Lagace, Caroline, Denson, T, Franchimont, D, Mélissa Beaudoin (457886), NIDDK IBD Genetics Consortium, Alikashani, A, Boucher, G., D'Amato, M, Hugot, JP, Bitton, A, Severine Vermeire (5649814), Schumm, Philip L., Barrett, JC, Richard H. Duerr, Quebec, I.B.D.G.C., Rioux, John D., Steve R. Brant (457890), Andre Franke, Dubinsky, M, Stefan Schreiber (36915), Laukens, Debby, Daly, MJ, Bumpstead, S, Francesca Bresso (191101), Rinse K Weersma, Xavier, Ramnik J., Daly, Mark, Torkvist, Leif, Jonas Halfvarson (117749), Radford-Smith, Graham, Paré, P, Rioux, John D.,, Vermeire, Severine, +308 morecore +3 more sourcesSCREENING OF ONCOGENIC VARIANTS IN DNA POLYMERASES WITH TRANSLESION SYNTHESIS ACTIVITY IN MYELODYSPLASTIC NEOPLASM
Hematology, Transfusion and Cell Therapy, 2023 Introduction: Myelodysplastic Neoplasm (MDS) is characterized by cytogenetic alterations in 40-60% of cases and 94% have at least one oncogenic mutation.RTG Oliveira, ME Escócia, LR Sampaio, DP Borges, JVC Goes, MA Viana, RDB Dias, NFAM Mendonça, SMM Magalhães, RF Pinheiro +9 moredoaj +1 more sourceMagmaFlow: A desktop platform for artificial intelligence‐driven expression analysis
FEBS Open Bio, EarlyView.MagmaFlow is a free, no‐code platform for gene expression analysis. It generates interactive volcano plots, links genes to literature, pathways, and diseases, prioritizes candidates using millions of publications, identifies affected biological processes, builds network diagrams, and exports publication‐ready figures and reports for macOS and Windows ...Carlos E. Buss, Ao Li, Eduardo H. Gilglioni, Mayank Bansal, Sumeet Pal Singh, Latifa Bakiri, Alessandra K. Cardozo, Esteban N. Gurzov +7 morewiley +1 more sourceCase Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case
Frontiers in Cardiovascular Medicine, 2022 BackgroundSudden cardiac death (SCD), based on sudden cardiac ejection cessation, is an unexpected death. Primary cardiomyopathies, including dilated cardiomyopathy (DCM), are one of main causes of SCD.Jie-Yuan Jin, Jiao Xiao, Yi Dong, Yue Sheng, Ya-Dong Guo, Ya-Dong Guo, Ya-Dong Guo, Rong Xiang, Rong Xiang, Rong Xiang +9 moredoaj +1 more sourceDistribution of allele frequencies of non-synonymous and synonymous germline and somatic variants in melanoma patients.
, 2012 (a) Allele frequencies of germline and somatic variants. The mean allele frequencies were: higher for germline variants (ns = 6.125, s = 7.412) than for the somatic variants, (ns = 2.685, s = 1.857).Austin Y. Shull (141749), Dora Oroian (141761), Alicia Latham-Schwark (141752), Phillip J. Buckhaults (141767), Poornema Ramasamy (141756), Kristin Leskoske (141759), Marc R. Birtwistle (141764) +6 morecore +1 more source
