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Nonsense mutation

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies

Daniel R. McHugh, Miarasa S. Steele, Dana M. Valerio, Alexander Miron, Rachel J. Mann, David F. LePage, Ronald A. Conlon, Calvin U. Cotton, Mitchell L. Drumm, Craig A. Hodges

published 20 Jun 2018

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Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri, Ramya Sachidanandam, Srikrupa N. Natarajan, Mamatha Gandra, Arokiasamy Tharigopala, Muthukumaran Sivashanmugam, Mohammed Alameen, Umashankar Vetrivel, Lingam Gopal, Vikas Khetan, Rajiv Raman, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam

published 31 May 2018

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Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, Haya Al-balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki

published 30 May 2018

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ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

published 03 May 2018

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Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, Huishuang Chen, Yuanyuan Ma, Pei-Wen Chiang, Jing Zhong, Xuyang Liu, Asan, Jing Wu, Yan Su, Xin Li, Jianlian Deng, Yingping Huang, Xinxin Zhang, Yang Li, Ning Fan, Ying Wang, Lihui Tang, Jinting Shen, Meiyan Chen, Xiuqing Zhang, Deng Te, Santasree Banerjee, Hui Liu, Ming Qi, Xin Yi

published 11 Apr 2018

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Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

L. Lavalle, A. S. Thomas, B. Beaton, H. Ebrahim, M. Reed, U. Ramaswami, P. Elliott, A. B. Mehta, D. A. Hughes

published 05 Apr 2018

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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, Korcan Demir, Roua A. Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F. Al-Enezi, Seçil Özışık, Manar S. A. Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E. Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E. Tamimi, Brian F. Meyer, Ece Böber, Yufei Shi

published 05 Mar 2018

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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

Peter C. van den Akker, Anna M. G. Pasmooij, Hans Joenje, Robert M. W. Hofstra, Gerard J. te Meerman, Marcel F. Jonkman

published 22 Feb 2018

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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, Xiaohui Guo, Xiaoyu Chen, Zhisong He, Qun He

published 25 Jan 2018

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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

published 11 Jan 2018

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The absence of N-acetylglucosamine in wall teichoic acids of Listeria monocytogenes modifies biofilm architecture and tolerance to rinsing and cleaning procedures

Thomas Brauge, Christine Faille, Irina Sadovskaya, Alain Charbit, Thierry Benezech, Yang Shen, Martin J. Loessner, Jean Romain Bautista, Graziella Midelet-Bourdin

published 10 Jan 2018

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Thomas M. Bennett, Oussama M’Hamdi, J. Fielding Hejtmancik, Alan Shiels

published 21 Dec 2017

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RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan

published 20 Dec 2017

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