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Missense mutation

Sequencing of DISC1 Pathway Genes Reveals Increased Burden of Rare Missense Variants in Schizophrenia Patients from a Northern Swedish Population

Lotte N. Moens, Peter De Rijk, Joke Reumers, Maarten J. A. Van Den Bossche, Wim Glassee, Sonia De Zutter, An-Sofie Lenaerts, Annelie Nordin, Lars-Göran Nilsson, Ignacio Medina Castello, Karl-Fredrik Norrback, Dirk Goossens, Kristel Van Steen, Rolf Adolfsson, Jurgen Del-Favero

published 11 Aug 2011

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In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in Spermine Synthase

Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov

published 27 May 2011

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The Drosophila Mitochondrial Translation Elongation Factor G1 Contains a Nuclear Localization Signal and Inhibits Growth and DPP Signaling

Catherine Trivigno, Theodor E. Haerry

published 25 Feb 2011

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TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

Aaron Voigt, David Herholz, Fabienne C. Fiesel, Kavita Kaur, Daniel Müller, Peter Karsten, Stephanie S. Weber, Philipp J. Kahle, Till Marquardt, Jörg B. Schulz

published 18 Aug 2010

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Transcription-Associated Mutagenesis Increases Protein Sequence Diversity More Effectively than Does Random Mutagenesis in Escherichia coli

Hyunchul Kim, Baek-Seok Lee, Masaru Tomita, Akio Kanai

published 10 May 2010

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Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

Stephen C. Collins, Brad Coffee, Paul J. Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E. Zwick, David J. Cutler, Stephen T. Warren

published 05 Mar 2010

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Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell MacKenzie, Hee-Won Park

published 20 Oct 2009

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Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky

published 13 Oct 2009

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The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio

published 24 Jul 2009

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Toll-Like Receptor 4 (TLR4) and Typhoid Fever in Vietnam

Nguyen Thi Hue, Mai Ngoc Lanh, Le Thi Phuong, Ha Vinh, Nguyen Tran Chinh, Tran Tinh Hien, Nguyen T. Hieu, Jeremy J. Farrar, Sarah J. Dunstan

published 11 Mar 2009

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VHL Type 2B Mutations Retain VBC Complex Form and Function

Kathryn E. Hacker, Caroline Martz Lee, W. Kimryn Rathmell

published 25 Nov 2008

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Cataloging Coding Sequence Variations in Human Genome Databases

Hong-Hee Won, Hee-Jin Kim, Kyung-A Lee, Jong-Won Kim

published 30 Oct 2008

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Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, Jian Cheng, Bingrong Zhou, Xin Tong, Xiangbai Dong, Zixing Wang, Qingang Hu, Meng Chen, Zi-Chun Hua

published 11 Jun 2008

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