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Mutation

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, Melanie May, Tychele Turner, Rebecca Rose, Roger Stevenson, Charles E. Schwartz, Tao Wang

published 13 Feb 2015

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High Prevalence of the K65R Mutation in HIV-1 Subtype C Infected Patients Failing Tenofovir-Based First-Line Regimens in South Africa

Lindiwe Skhosana, Kim Steegen, Michelle Bronze, Azwidowi Lukhwareni, Esrom Letsoalo, Maria A. Papathanasopoulos, Sergio C. Carmona, Wendy S. Stevens

published 06 Feb 2015

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Single Site Suppressors of a Fission Yeast Temperature-Sensitive Mutant in cdc48 Identified by Whole Genome Sequencing

Irina N. Marinova, Jacob Engelbrecht, Adrian Ewald, Lasse L. Langholm, Christian Holmberg, Birthe B. Kragelund, Colin Gordon, Olaf Nielsen, Rasmus Hartmann-Petersen

published 06 Feb 2015

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Characterization of RanBPM Molecular Determinants that Control Its Subcellular Localization

Louisa M. Salemi, Sandra O. Loureiro, Caroline Schild-Poulter

published 06 Feb 2015

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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

published 06 Feb 2015

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Proteasome 19S RP Binding to the Sec61 Channel Plays a Key Role in ERAD

Marie-Luise Kaiser, Karin Römisch

published 06 Feb 2015

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Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M. Wade

published 06 Feb 2015

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Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, Dana Saadeh, Ossama Abbas, Farah Ballout, Abdul-Ghani Kibbi, Ghassan Dbaibo, Nadine Darwiche, Georges Nemer, Mazen Kurban

published 06 Feb 2015

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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C. Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J. Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann

published 03 Feb 2015

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Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, Jonathan J. Zaiat, Sabrina P. Completa, Patricia A. Vega, Dolores González-Morón, Nancy M. Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A. Kauffman

published 03 Feb 2015

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The Unphosphorylated EIIA^Ntr Protein Represses the Synthesis of Alkylresorcinols in Azotobacter vinelandii

Luis Felipe Muriel-Millán, Soledad Moreno, Yanet Romero, Leidy Patricia Bedoya-Pérez, Miguel Castañeda, Daniel Segura, Guadalupe Espín

published 02 Feb 2015

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HIV Drug Resistance Mutations in Proviral DNA from a Community Treatment Program

Anne Derache, Hyoung-Shik Shin, Maya Balamane, Elizabeth White, Dennis Israelski, Jeffrey D. Klausner, Alexandra H. Freeman, David Katzenstein

published 30 Jan 2015

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Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia

Suriati Mohamad, Nurismah Md Isa, Rohaizak Muhammad, Nor Aina Emran, Nor Mayah Kitan, Peter Kang, In Nee Kang, Nur Aishah Mohd Taib, Soo Hwang Teo, Sharifah Noor Akmal

published 28 Jan 2015

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