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Mutation databases

Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Lucie Grodecká, Pavla Lockerová, Barbora Ravčuková, Emanuele Buratti, Francisco E. Baralle, Ladislav Dušek, Tomáš Freiberger

published 21 Feb 2014

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FBXW7 Mutations in Patients with Advanced Cancers: Clinical and Molecular Characteristics and Outcomes with mTOR Inhibitors

Denis L. Jardim, Jennifer J. Wheler, Kenneth Hess, Apostolia M. Tsimberidou, Ralph Zinner, Filip Janku, Vivek Subbiah, Aung Naing, Sarina A. Piha-Paul, Shannon N. Westin, Sinchita Roy-Chowdhuri, Funda Meric-Bernstam, David S. Hong

published 19 Feb 2014

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Characteristics of HIV-1 Natural Drug Resistance-Associated Mutations in Former Paid Blood Donors in Henan Province, China

Yi Bao, Di Tian, Ying-Ying Zheng, Hong-Li Xi, Dan Liu, Min Yu, Xiao-Yuan Xu

published 19 Feb 2014

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Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study

Kuerbanjiang Abuduxikuer, Jian-She Wang

published 24 Jan 2014

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Identification of Mutations in the PYRIN-Containing NLR Genes (NLRP) in Head and Neck Squamous Cell Carcinoma

Yu Lei, Vivian W. Y. Lui, Jennifer R. Grandis, Ann Marie Egloff

published 21 Jan 2014

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Deriving a Mutation Index of Carcinogenicity Using Protein Structure and Protein Interfaces

Octavio Espinosa, Konstantinos Mitsopoulos, Jarle Hakas, Frances Pearl, Marketa Zvelebil

published 15 Jan 2014

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Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld

published 09 Jan 2014

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6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Marika Pane, Elena S. Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C. Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri

published 08 Jan 2014

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The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Azra Fatima, Shao Kaifeng, Sven Dittmann, Guoxing Xu, Manoj K. Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jürgen Hescheler, Tomo Šarić

published 11 Dec 2013

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CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová

published 11 Dec 2013

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Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

Hege Beard, Anuradha Cholleti, David Pearlman, Woody Sherman, Kathryn A. Loving

published 10 Dec 2013

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An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Michelle Falcone, Kemal O. Yariz, David B. Ross, Joseph Foster II, Ibis Menendez, Mustafa Tekin

published 06 Dec 2013

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Structural and Functional Analysis of Human SOD1 in Amyotrophic Lateral Sclerosis

Lorenna Giannini Alves Moreira, Livia Costa Pereira, Priscila Ramalho Drummond, Joelma Freire De Mesquita

published 02 Dec 2013

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