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Missense mutation

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, Ahoura Arasteh Kani, Omid Aryani, Mahdi Tondar, Fatemeh Ahmadipour, Lip Yong Chung, Massoud Houshmand

published 12 Sep 2014

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In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis

Syed Irfan Raza, Dost Muhammad, Abid Jan, Raja Hussain Ali, Mubashir Hassan, Wasim Ahmad, Sajid Rashid

published 13 Aug 2014

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Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang

published 12 Aug 2014

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Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Alice E. Davidson, Sek-Shir Cheong, Pirro G. Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B. Ruddle, Hala Ali, Nicole Carnt, Jessica C. Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R. Webb, David Laws, Michael Cosgrove, Jens M. Hertz, Isabelle Russell-Eggitt, Daniela T. Pilz, Christopher J. Hammond, Stephen J. Tuft, Alison J. Hardcastle

published 05 Aug 2014

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PIK3CA and TP53 Gene Mutations in Human Breast Cancer Tumors Frequently Detected by Ion Torrent DNA Sequencing

Xusheng Bai, Enke Zhang, Hua Ye, Vijayalakshmi Nandakumar, Zhuo Wang, Lihong Chen, Chuanning Tang, Jianhui Li, Huijin Li, Wei Zhang, Wei Han, Feng Lou, Dandan Zhang, Hong Sun, Haichao Dong, Guangchun Zhang, Zhiyuan Liu, Zhishou Dong, Baishuai Guo, He Yan, Chaowei Yan, Lu Wang, Ziyi Su, Yangyang Li, Lindsey Jones, Xue F. Huang, Si-Yi Chen, Jinglong Gao

published 11 Jun 2014

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Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Preethi S. Nair, Shrimati D. Shetty, S. Chandrakala, Kanjaksha Ghosh

published 20 May 2014

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Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Giulia Masi, Maurizio Iacobone, Alessandro Sinigaglia, Barbara Mantelli, Gianmaria Pennelli, Ignazio Castagliuolo, Giorgio Palù, Luisa Barzon

published 19 May 2014

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ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Xiaoling Yang, Hua Gao, Jie Zhang, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Liping Wei, Yuehua Zhang

published 19 May 2014

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Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families

Limeng Dai, Dan Liu, Min Song, Xueqing Xu, Gang Xiong, Kang Yang, Kun Zhang, Hui Meng, Hong Guo, Yun Bai

published 01 May 2014

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Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

Alexandra F. S. Breitenkamp, Jan Matthes, Robert Daniel Nass, Judith Sinzig, Gerd Lehmkuhl, Peter Nürnberg, Stefan Herzig

published 21 Apr 2014

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Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

Zhan-Hui Zhang, Wei-Xia Lin, Mei Deng, Shu-Tao Zhao, Han-Shi Zeng, Feng-Ping Chen, Yuan-Zong Song

published 21 Feb 2014

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BOR-Syndrome-Associated Eya1 Mutations Lead to Enhanced Proteasomal Degradation of Eya1 Protein

Amna Musharraf, Dagmar Kruspe, Jürgen Tomasch, Birgit Besenbeck, Christoph Englert, Kathrin Landgraf

published 29 Jan 2014

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Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Ángel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas

published 23 Jan 2014

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