Mutation

Growth of the Obligate Anaerobe Desulfovibrio vulgaris Hildenborough under Continuous Low Oxygen Concentration Sparging: Impact of the Membrane-Bound Oxygen Reductases

Fanny Ramel, Gael Brasseur, Laetitia Pieulle, Odile Valette, Agnès Hirschler-Réa, Marie Laure Fardeau, Alain Dolla

published 02 Apr 2015

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A TatABC-Type Tat Translocase Is Required for Unimpaired Aerobic Growth of Corynebacterium glutamicum ATCC13032

Dan Oertel, Sabrina Schmitz, Roland Freudl

published 02 Apr 2015

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Idd5.4" class="list-title">Increased Autoimmune Diabetes in pIgR-Deficient NOD Mice Is Due to a "Hitchhiking" Interval that Refines the Genetic Effect of Idd5.4

Kim R. Simpfendorfer, Richard A. Strugnell, Thomas C. Brodnicki, Odilia L. C. Wijburg

published 02 Apr 2015

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A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Nina van Beek, Aikaterini Patsatsi, Yask Gupta, Steffen Möller, Miriam Freitag, Susanne Lemcke, Andreas Recke, Detlef Zillikens, Enno Schmidt, Saleh Ibrahim

published 02 Apr 2015

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Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Gorka Ruiz de Garibay, Pablo Librado, Alejandro Sánchez-Gracia, Julio Rozas, Núria Bonifaci, Lesley McGuffog, Vernon S. Pankratz, Abul Islam, Francesca Mateo, Antoni Berenguer, Anna Petit, Isabel Català, Joan Brunet, Lidia Feliubadaló, Eva Tornero, Javier Benítez, Ana Osorio, Teresa Ramón y Cajal, Heli Nevanlinna, Kristiina Aittomäki, Banu K. Arun, Amanda E. Toland, Beth Y. Karlan, Christine Walsh, Jenny Lester, Mark H. Greene, Phuong L. Mai, Robert L. Nussbaum, Irene L. Andrulis, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Rosa B. Barkardottir, Anna Jakubowska, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Kathleen Claes, Tom Van Maerken, Orland Díez, Thomas V. Hansen, Lars Jønson, Anne-Marie Gerdes, Bent Ejlertsen, Miguel de la Hoya, Trinidad Caldés, Alison M. Dunning, Clare Oliver, Elena Fineberg, Margaret Cook, Susan Peock, Emma McCann, Alex Murray, Chris Jacobs, Gabriella Pichert, Fiona Lalloo, Carol Chu, Huw Dorkins, Joan Paterson, Kai-Ren Ong, Manuel R. Teixeira, Teixeira , Frans B. L. Hogervorst, Annemarie H. van der Hout, Caroline Seynaeve, Rob B. van der Luijt, Marjolijn J. L. Ligtenberg, Peter Devilee, Juul T. Wijnen, Matti A. Rookus, Hanne E. J. Meijers-Heijboer, Marinus J. Blok, Ans M. W. van den Ouweland, Cora M. Aalfs, Gustavo C. Rodriguez, Kelly-Anne A. Phillips, Marion Piedmonte, Stacy R. Nerenstone, Victoria L. Bae-Jump, David M. O'Malley, Elena S. Ratner, Rita K. Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hansjoerg J. Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Uffe Birk Jensen, Mads Thomassen, Torben A. Kruse, Lenka Foretova, Paolo Peterlongo, Loris Bernard, Bernard Peissel, Giulietta Scuvera, Siranoush Manoukian, Paolo Radice, Laura Ottini, Marco Montagna, Simona Agata, Christine Maugard, Jacques Simard, Penny Soucy, Andreas Berger, Anneliese Fink-Retter, Christian F. Singer, Christine Rappaport, Daphne Geschwantler-Kaulich, Muy-Kheng Tea, Georg Pfeiler, BCFR , Esther M. John, Alex Miron, Susan L. Neuhausen, Mary Beth Terry, Wendy K. Chung, Mary B. Daly, David E. Goldgar, Ramunas Janavicius, Cecilia M. Dorfling, Elisabeth J. van Rensburg, Florentia Fostira, Irene Konstantopoulou, Judy Garber, Andrew K. Godwin, Edith Olah, Steven A. Narod, Gad Rennert, Shani Shimon Paluch, Yael Laitman, Eitan Friedman, SWE-BRCA , Annelie Liljegren, Johanna Rantala, Marie Stenmark-Askmalm, Niklas Loman, Evgeny N. Imyanitov, Ute Hamann, kConFab Investigators , Amanda B. Spurdle, Sue Healey, Jeffrey N. Weitzel, Josef Herzog, David Margileth, Chiara Gorrini, Manel Esteller, Antonio Gómez, Sergi Sayols, Enrique Vidal, Holger Heyn, GEMO , Dominique Stoppa-Lyonnet, Melanie Léoné, Laure Barjhoux, Marion Fassy-Colcombet, Antoine de Pauw, Christine Lasset, Sandra Fert Ferrer, Laurent Castera, Pascaline Berthet, François Cornelis, Yves-Jean Bignon, Francesca Damiola, Sylvie Mazoyer, Olga M. Sinilnikova, Christopher A. Maxwell, Joseph Vijai, Mark Robson, Noah Kauff, Marina J. Corines, Danylko Villano, Julie Cunningham, Adam Lee, Noralane Lindor, Conxi Lázaro, Douglas F. Easton, Kenneth Offit, Georgia Chenevix-Trench, Fergus J. Couch, Antonis C. Antoniou, Miguel Angel Pujana

published 01 Apr 2015

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BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line

Arianne Morrison, Yvonne Chekaluk, Ruben Bacares, Marc Ladanyi, Liying Zhang

published 01 Apr 2015

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Insight into Neutral and Disease-Associated Human Genetic Variants through Interpretable Predictors

Bastiaan A. van den Berg, Marcel J. T. Reinders, Dick de Ridder, Tjaart A. P. de Beer

published 31 Mar 2015

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Lower Mutation Frequency of BCP/Precore Regions in e Antigen-Negative Chronic HBV-Infected Children instead of Adults Patients

Yong Huang, Haijun Deng, Xuefeng Shan, Xuyang Gong, Xiaosong Li, Zen Tu, Quanxin Long, Ailong Huang

published 30 Mar 2015

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Identification and Analysis of the Paulomycin Biosynthetic Gene Cluster and Titer Improvement of the Paulomycins in Streptomyces paulus NRRL 8115

Jine Li, Zhoujie Xie, Min Wang, Guomin Ai, Yihua Chen

published 30 Mar 2015

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Pre-Existing Mutations in Reverse Transcriptase of Hepatitis B Virus in Treatment-Naive Chinese Patients with Chronic Hepatitis B

Jie Xu, Biao Wu, Jing-Hui Wang, Ling Huang, Deng-yu Wang, Ling Zhao, Guo-ping Zhao, Ying Wang

published 30 Mar 2015

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Model-Independent Phenotyping of C. elegans Locomotion Using Scale-Invariant Feature Transform

Yelena Koren, Raphael Sznitman, Paulo E. Arratia, Christopher Carls, Predrag Krajacic, André E. X. Brown, Josué Sznitman

published 27 Mar 2015

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Mismatch Repair-Deficient Crypt Foci in Lynch Syndrome – Molecular Alterations and Association with Clinical Parameters

Laura Staffa, Fabian Echterdiek, Nina Nelius, Axel Benner, Wiebke Werft, Bernd Lahrmann, Niels Grabe, Martin Schneider, Mirjam Tariverdian, Magnus von Knebel Doeberitz, Hendrik Bläker, Matthias Kloor

published 27 Mar 2015

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A Comprehensive Alanine-Scanning Mutagenesis Study Reveals Roles for Salt Bridges in the Structure and Activity of Pseudomonas aeruginosa Elastase

Fei Bian, Shousong Yue, Zhenying Peng, Xiaowei Zhang, Gao Chen, Jinhui Yu, Ning Xuan, Yuping Bi

published 27 Mar 2015

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Mutation

Growth of the Obligate Anaerobe Desulfovibrio vulgaris Hildenborough under Continuous Low Oxygen Concentration Sparging: Impact of the Membrane-Bound Oxygen Reductases

A TatABC-Type Tat Translocase Is Required for Unimpaired Aerobic Growth of Corynebacterium glutamicum ATCC13032

Idd5.4" class="list-title">Increased Autoimmune Diabetes in pIgR-Deficient NOD Mice Is Due to a "Hitchhiking" Interval that Refines the Genetic Effect of Idd5.4

A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line

Insight into Neutral and Disease-Associated Human Genetic Variants through Interpretable Predictors

Lower Mutation Frequency of BCP/Precore Regions in e Antigen-Negative Chronic HBV-Infected Children instead of Adults Patients

Identification and Analysis of the Paulomycin Biosynthetic Gene Cluster and Titer Improvement of the Paulomycins in Streptomyces paulus NRRL 8115

Pre-Existing Mutations in Reverse Transcriptase of Hepatitis B Virus in Treatment-Naive Chinese Patients with Chronic Hepatitis B

Model-Independent Phenotyping of C. elegans Locomotion Using Scale-Invariant Feature Transform

Mismatch Repair-Deficient Crypt Foci in Lynch Syndrome – Molecular Alterations and Association with Clinical Parameters

A Comprehensive Alanine-Scanning Mutagenesis Study Reveals Roles for Salt Bridges in the Structure and Activity of Pseudomonas aeruginosa Elastase

Mutation

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