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Point mutation

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Susan Sparks, Carsten Bonnemann, Madhuri Hegde

published 11 Jan 2013

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Control of Hes7 Expression by Tbx6, the Wnt Pathway and the Chemical Gsk3 Inhibitor LiCl in the Mouse Segmentation Clock

Aitor González, Iris Manosalva, Tianxiao Liu, Ryoichiro Kageyama

published 09 Jan 2013

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A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

published 08 Jan 2013

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The Role of Viral Population Diversity in Adaptation of Bovine Coronavirus to New Host Environments

Monica K. Borucki, Jonathan E. Allen, Haiyin Chen-Harris, Adam Zemla, Gilda Vanier, Shalini Mabery, Clinton Torres, Pamela Hullinger, Tom Slezak

published 07 Jan 2013

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Structure-Function Relation of Phospholamban: Modulation of Channel Activity as a Potential Regulator of SERCA Activity

Serena Smeazzetto, Andrea Saponaro, Howard S. Young, Maria Rosa Moncelli, Gerhard Thiel

published 04 Jan 2013

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Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Félix Claverie-Martín, Víctor García-Nieto, Cesar Loris, Gema Ariceta, Inmaculada Nadal, Laura Espinosa, Ángeles Fernández-Maseda, Montserrat Antón-Gamero, África Avila, Álvaro Madrid, Hilaria González-Acosta, Elizabeth Córdoba-Lanus, Fernando Santos, Marta Gil-Calvo, Mar Espino, Elena García-Martinez, Ana Sanchez, Rafael Muley, RenalTube Group

published 03 Jan 2013

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Epitope Dampening Monotypic Measles Virus Hemagglutinin Glycoprotein Results in Resistance to Cocktail of Monoclonal Antibodies

Patrycja J. Lech, Gregory J. Tobin, Ruth Bushnell, Emily Gutschenritter, Linh D. Pham, Rebecca Nace, Els Verhoeyen, François-Loïc Cosset, Claude P. Muller, Stephen J. Russell, Peter L. Nara

published 03 Jan 2013

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Investigation of Prolific Sheep from UK and Ireland for Evidence on Origin of the Mutations in BMP15 (FecXG, FecXB) and GDF9 (FecGH) in Belclare and Cambridge Sheep

Michael P. Mullen, James P. Hanrahan, Dawn J. Howard, Richard Powell

published 02 Jan 2013

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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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Specificity and Versatility of Substrate Binding Sites in Four Catalytic Domains of Human N-Terminal Acetyltransferases

Cédric Grauffel, Angèle Abboud, Glen Liszczak, Ronen Marmorstein, Thomas Arnesen, Nathalie Reuter

published 28 Dec 2012

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High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

Camilla Krakstad, Even Birkeland, Danila Seidel, Kanthida Kusonmano, Kjell Petersen, Siv Mjøs, Erling A. Hoivik, Elisabeth Wik, Mari Kyllesø Halle, Anne M. Øyan, Karl-Henning Kalland, Henrica Maria Johanna Werner, Jone Trovik, Helga Salvesen

published 27 Dec 2012

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Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

Chun-hong Xia, Bo Chang, Adam M. DeRosa, Catherine Cheng, Thomas W. White, Xiaohua Gong

published 26 Dec 2012

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Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler

published 20 Dec 2012

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