Results 111 to 120 of about 1,791,159 (252)
Hot and Splicey: Kinesin Isoforms Seek Attention
Cytoskeleton, EarlyView.ABSTRACT
Kinesins family members (KIFs) are encoded in mammals by approximately 45 genes, which are grouped into 14 families based on structural and functional features. As cells increased in complexity, so too did the demand for specialized kinesin‐mediated processes, including intracellular transport, cytoskeletal organization, and cell division. One C. Belhadi, M. A. Silvermanwiley +1 more sourceIdentification of novel candidate disease genes from de novo exonic copy number variants
Genome Medicine, 2017 Exon-targeted microarrays can detect small (T. Gambin, Bo Yuan, W. Bi, Peng-Fei Liu, J. Rosenfeld, Z. Coban-Akdemir, A. Pursley, S. Nagamani, R. Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, R. Matalon, Lisa T. Emrick, Monica B. Proud, D. Treadwell-Deering, Hsiao-Tuan Chao, H. Koillinen, Chester W. Brown, N. Urraca, Roya M Mostafavi, S. Bernes, E. Roeder, Kimberly Nugent, P. Bader, G. Bellus, Michael Cummings, H. Northrup, M. Ashfaq, Rachel Westman, R. Wildin, A. Beck, L. Immken, Lindsay E. Elton, Shaun Varghese, Edward P. Buchanan, L. Faivre, M. Lefebvre, C. Schaaf, M. Walkiewicz, Ya-Ping Yang, S. Kang, S. Lalani, C. Bacino, A. Beaudet, Amy M. Breman, Janice L. Smith, Sau W. Cheung, J. Lupski, Ankita Patel, C. Shaw, P. Stankiewicz +51 moresemanticscholar +1 more sourceOligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.Sarah Duerinckx, Barbara Gravel, Julie Soblet, Benjamin Legros, Susana Ferrao Santos, Wim Van Paesschen, Estelle Rikir, Epi25 Collaborative, Siwei Chen, Zaid Afawi, Quratulain Zulfiqar Ali, Danielle M. Andrade, Mutluay Arslan, Simona Balestrini, Carmen Barba, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Felicitas Becker, Caitlin A. Bennett, Ahmad Beydoun, Francesca Bisulli, Christian Bosselmann, S. Hande Caglayan, Laura Canafoglia, Barbara Castellotti, Francine Chassoux, I‐Jun Chou, Seo‐Kyung Chung, Patrick Cossette, Chantal Depondt, Orrin Devinsky, Dennis J. Dlugos, Viola Doccini, Colin A. Ellis, Thomas N. Ferraro, Lorenzo Ferri, Mark Fitzgerald, Francesco Fortunato, Elena Freri, Tania Giangregorio, Tracy A. Glauser, Aslı Gundogdu‐Eken, Namrata Gupta, Kevin Haas, Erin L. Heinzen, Christian Hengsbach, Olivia Hoeper, Michele Iacomino, Yushi Inoue, Lara Jehi, Symon M. Kariuki, Karl Martin Klein, Susanne Knake, Andreas Koupparis, Ioanna Kousiappa, Roland Krause, Martin Krenn, Heinz Krestel, Wolfram S. Kunz, Austin Lacey, Stephan Lauxmann, Stephanie L. Leech, Gaetan Lesca, David Lewis‐Smith, Calwing Liao, Laura Licchetta, Kuang‐Lin Lin, Tarja Linnankivi, Daniel H. Lowenstein, Colin H.T. Lui, Ida Manna, Paula Marques, Patrick May, Davide Mei, RaAaella Minardi, Barbara Mostacci, Lorenzo Muccioli, Bernd A. Neubauer, Terence J. O'Brien, Savvas S. Papacostas, Elena Parrini, Manuela Pendziwiat, Francesca Ragona, Mark I. Rees, Antonella Riva, Philippe Ryvlin, Andrea Salmon, Ilaria Sammarra, Marcello Scala, Ingrid E. ScheAer, Susanne Schubert‐Bast, Paolo Scudieri, Graeme J. Sills, Sanjay M. Sisodiya, Hannah Stamberger, Ulrich Stephani, Carlotta Stipa, Pasquale Striano, Adam Strzelczyk, Rainer Surges, Toshimitsu Suzuki, Mariagrazia Talarico, George A. Tanteles, Marian Todaro, Meng‐Han Tsai, Birute Tumiene, Dilsad Turkdogan, Luc Valton, Andreas van Baalen, Annalisa Vetro, Yvonne G. Weber, Sarah Weckhuysen, Peter Widdess‐Walsh, Samuel Wiebe, Randi von Wrede, Kazuhiro Yamakawa, Zuhal Yapıcı, Fritz Zimprich, Milena Zizovic, Gábor Zsurka, Benjamin M. Neale, Samuel F. Berkovic, Solve‐RD DITF‐EpiCARE, Marc Abramowicz, Nicholas Allen, Simona Balestrini, Tobias Bartolomaeus, Ravishankara Bellampalli, Katherine Benson, Francesca Bisulli, Christian Boßelmann, Susan Byrne, Laura Canafoglia, Evelina Carapancea, Barbara Castellotti, Gianpiero Cavalleri, Roberta Cilio, Norman Delanty, Christel Depienne, Chantal Depondt, Sarah Duerinckx, Zakaria Eddafir, Kornelia Ellwanger, Silvana Franceschetti, Elena Freri, Hamidah Ghani, Tiziana Granata, Marie Greally, Renzo Guerrini, Tobias B. Haack, Eva Hammar Bouveret, Michele Iacomino, Rami Jamra, Josua Kegele, Christian Korff, Roland Krause, Alma Küchler, Robert Lauerer‐Braun, Damien Lederer, Elsa Leitão, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Laura Licchetta, Frédéric Masclaux, Patrick May, Davide Mei, Cyril Mignot, Charissa Millevert, Raffaella Minardi, Patrick Moloney, Hiltrud Muhle, Mary O. Reghan, Joohyun Park, Elena Parrini, Manuela Pendziwiat, Konrad Platzner, Johanna Pohl, Mary Sandrine, Marcello Scala, Sanjay Sisodiya, Noor Smal, Hannah Stamberger, Pasquale Striano, Roxane van Heurck, Christina Vosseler‐Wolf, David Webb, Sarah Weckhuysen, Federico Zara, Alec Aeby, Guillaume Smits, Chantal Depondt +192 morewiley +1 more sourceA novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report
HeliyonMost pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most ...Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie +12 moredoaj +1 more sourceA plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity
Bioinform., 2018 Summary Assessing the pathogenicity of genetic variants can be a complex and challenging task. Spliceogenic variants, which alter mRNA splicing, may yield mature transcripts that encode non-functional protein products, an important predictor of Mendelian J. Shamsani, S. Kazakoff, I. Armean, W. McLaren, M. Parsons, B. Thompson, T. O'Mara, S. Hunt, N. Waddell, A. Spurdle +9 moresemanticscholar +1 more sourceMutAid variant cross-referencing.
, 2016 MutAid constructs direct links to more than 30 publically available databases for each variant in the output summary table. These links are created based on coordinates, and the Entrez gene ID.Ram Vinay Pandey (233450), Albert Kriegner (34976), Stephan Pabinger (146505), Andreas Weinhäusel (748931) +3 morecore +1 more sourceDeep whole genome sequencing of epileptogenic brain lesions
Epilepsia, EarlyView.Abstract Objective
Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.Christian M. Boßelmann, Costin Leu, Lucas Hoffmann, Roland Coras, Katja Kobow, Hajo Hamer, Daniel Delev, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Kerstin Becker, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal +17 morewiley +1 more sourceGeVaCT - Genomic Variant Classifier Tool
, 2016 High throughput screening (HTS) techniques, like mendeliome, whole exomeand genome screening, are becoming a routine in a clinical diagnosticsetting. However, classifying the identified genomic variants as benign or(likely) pathogenic, is still a tedious Farid, D., Bonduelle, M.L., Nowé, A., Van Dooren, S., Croes, D., Sengupta, D., Daneels, D., Grau, I. +7 morecore +3 more sources
