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Missense mutation

Molecular Cloning, Expression Pattern and Polymorphisms of NADPH-Cytochrome P450 Reductase in the Bird Cherry-Oat Aphid Rhopalosiphum padi (L.)

Kang Wang, Xiong Peng, Yayun Zuo, Yuting Li, Maohua Chen

published 28 Apr 2016

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Diverse Basis of β-Catenin Activation in Human Hepatocellular Carcinoma: Implications in Biology and Prognosis

Hirohisa Okabe, Hiroki Kinoshita, Katsunori Imai, Shigeki Nakagawa, Takaaki Higashi, Kota Arima, Hideaki Uchiyama, Toru Ikegami, Norifumi Harimoto, Shinji Itoh, Takatoshi Ishiko, Tomoharu Yoshizumi, Toru Beppu, Satdarshan P. S. Monga, Hideo Baba, Yoshihiko Maehara

published 21 Apr 2016

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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Alexander Y. Сhurbanov, Tatiana M. Karafet, Igor V. Morozov, Valeriia Yu. Mikhalskaia, Marina V. Zytsar, Alexander A. Bondar, Olga L. Posukh

published 15 Apr 2016

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Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration

Glenn P. Lobo, Adrian Au, Philip D. Kiser, Stephanie A. Hagstrom

published 17 Mar 2016

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Missense Mutations Allow a Sequence-Blind Mutant of SpoIIIE to Successfully Translocate Chromosomes during Sporulation

Baundauna Bose, Sydney E. Reed, Marina Besprozvannaya, Briana M. Burton

published 05 Feb 2016

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High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension

Qunying Xi, Zhihong Liu, Zhihui Zhao, Qin Luo, Zhiwei Huang

published 28 Jan 2016

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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, Pallavi Shukla, Anita Rao, Kanjaksha Ghosh, Babu Rao Vundinti

published 22 Jan 2016

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M. Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

published 14 Jan 2016

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Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, Mira Šilar, Mitja Košnik, Radovan Mijanović, Branka Bonači-Nikolić, Matija Rijavec

published 04 Nov 2015

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A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

Haochen Liu, Tingting Ding, Yuan Zhan, Hailan Feng

published 25 Sep 2015

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

Xiaodong Jiaox, Shahid Y. Khan, Bushra Irum, Arif O. Khan, Qiwei Wang, Firoz Kabir, Asma A. Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

published 24 Sep 2015

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Functional Impact of 14 Single Nucleotide Polymorphisms Causing Missense Mutations of Human α7 Nicotinic Receptor

Qinhui Zhang, Yingjie Du, Jianliang Zhang, Xiaojun Xu, Fenqin Xue, Cong Guo, Yao Huang, Ronald J. Lukas, Yongchang Chang

published 04 Sep 2015

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Overexpression of Both ERG11 and ABC2 Genes Might Be Responsible for Itraconazole Resistance in Clinical Isolates of Candida krusei

Xiaoyuan He, Mingfeng Zhao, Jinyan Chen, Rimao Wu, Jianlei Zhang, Rui Cui, Yanyu Jiang, Jie Chen, Xiaoli Cao, Yi Xing, Yuchen Zhang, Juanxia Meng, Qi Deng, Tao Sui

published 26 Aug 2015

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