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Mutation

Microarray and Proteomic Analyses of Myeloproliferative Neoplasms with a Highlight on the mTOR Signaling Pathway

Vladan P. Čokić, Pascal Mossuz, Jing Han, Nuria Socoro, Bojana B. Beleslin-Čokić, Olivera Mitrović, Tijana Subotički, Miloš Diklić, Danijela Leković, Mirjana Gotić, Raj K. Puri, Constance Tom Noguchi, Alan N. Schechter

published 14 Aug 2015

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Analysis of Tospovirus NSs Proteins in Suppression of Systemic Silencing

Marcio Hedil, Mark G. Sterken, Dryas de Ronde, Dick Lohuis, Richard Kormelink

published 14 Aug 2015

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang

published 14 Aug 2015

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Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

Daniela Chieffo, Claudia Brogna, Angela Berardinelli, Grazia D’Angelo, Maria Mallardi, Adele D’Amico, Paolo Alfieri, Eugenio Mercuri, Marika Pane

published 14 Aug 2015

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ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification

Riyue Bao, Kyle Hernandez, Lei Huang, Wenjun Kang, Elizabeth Bartom, Kenan Onel, Samuel Volchenboum, Jorge Andrade

published 13 Aug 2015

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R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

Kheng-Seang Lim, Ai-Huey Tan, Chun-Shen Lim, Kek-Heng Chua, Ping-Chin Lee, Norlisah Ramli, Giri Shan Rajahram, Fatimah Tina Hussin, Kum-Thong Wong, Meenakshi B. Bhattacharjee, Ching-Ching Ng

published 13 Aug 2015

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Loss-of-Function PTPRD Mutations Lead to Increased STAT3 Activation and Sensitivity to STAT3 Inhibition in Head and Neck Cancer

Noah D. Peyser, Yu Du, Hua Li, Vivian Lui, Xiao Xiao, Timothy A. Chan, Jennifer R. Grandis

published 12 Aug 2015

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The Epidermal Growth Factor Receptor (EGFR / HER-1) Gatekeeper Mutation T790M Is Present in European Patients with Early Breast Cancer

Vahid Bemanian, Torill Sauer, Joel Touma, Bjørn Arne Lindstedt, Ying Chen, Hilde Presterud Ødegård, Katja Marjaana Vetvik, Ida Rashida Bukholm, Jürgen Geisler

published 12 Aug 2015

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Individual Substitution Mutations in the AID C Terminus That Ablate IgH Class Switch Recombination

Tatenda Kadungure, Anna J. Ucher, Erin K. Linehan, Carol E. Schrader, Janet Stavnezer

published 12 Aug 2015

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Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

Anita Kloss-Brandstätter, Hansi Weissensteiner, Gertraud Erhart, Georg Schäfer, Lukas Forer, Sebastian Schönherr, Dominic Pacher, Christof Seifarth, Andrea Stöckl, Liane Fendt, Irma Sottsas, Helmut Klocker, Christian W. Huck, Michael Rasse, Florian Kronenberg, Frank R. Kloss

published 11 Aug 2015

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Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia

Jingping Ge, Marisa Apicella, Jason A. Mills, Loïc Garçon, Deborah L. French, Mitchell J. Weiss, Monica Bessler, Philip J. Mason

published 10 Aug 2015

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Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

Yi Jiang, Shasha Huang, Tao Deng, Lihua Wu, Juan Chen, Dongyang Kang, Xiufeng Xu, Ruiyu Li, Dongyi Han, Pu Dai

published 07 Aug 2015

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Structure and Function of p53-DNA Complexes with Inactivation and Rescue Mutations: A Molecular Dynamics Simulation Study

Balu Kamaraj, Annemie Bogaerts

published 05 Aug 2015

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