Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner by Sylwia Michorowska

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Class 1 CF Mutations by Michael eWilschanski

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Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report by Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime, Ahmed Bouhouche

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A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets by Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

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An association analysis between a polymorphism in the SEC24A gene and lipid traits recorded in Duroc pigs by Emilio Mármol-Sánchez, Raquel Quintanilla, María Gracia Luigi-Sierra, Marcel Amills

Subjects: “…nonsense mutation…”
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Rescue of nonsense mutations by amlexanox in human cells by Gonzalez-Hilarion Sara, Beghyn Terence, Jia Jieshuang, Debreuck Nadège, Berte Gonzague, Mamchaoui Kamel, Mouly Vincent, Gruenert Dieter C, Déprez Benoit, Lejeune Fabrice

Subjects: “…NMD/nonsense mutation/readthrough/RNA/small molecules…”
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BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer by Jiangfen Wang, Jiayue Qin, Chunfang Xi, Yafen Zhang

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ROBO1 p.E280* Loses the Inhibitory Effects on the Proliferation and Angiogenesis of Wild-Type ROBO1 in Cholangiocarcinoma by Interrupting SLIT2 Signal by Tao Zhou, Yaodong Zhang, Yananlan Chen, Jijun Shan, Jifei Wang, Yirui Wang, Jiang Chang, Wangjie Jiang, Ruixiang Chen, Ziyi Wang, Xiaoli Shi, Yue Yu, Yue Yu, Changxian Li, Changxian Li, Xiangcheng Li, Xiangcheng Li

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A nonsense mutation in the tyrosinase gene causes albinism in water buffalo by Damé Maria Cecília, Xavier Gildenor, Oliveira-Filho José, Borges Alexandre, Oliveira Henrique, Riet-Correa Franklin, Schild Ana

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Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome by Abolfazl Heidari, Ali Homaei, Fatemeh Saffari

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Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia by Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M. Sain, Muhammad Jawad Khan, Muhammad Umair, Muhammad Umair

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A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa by Hui-Hui Sun, Jing-Cong Zhao, Su-Ling Yang, Jin-Dou Shi, Yun-Shuo Wei, Jian-Cang Wang, Feng Gu, Lu Chen

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Identification of a Polyketide Synthase Gene Responsible for Ascochitine Biosynthesis in <italic toggle="yes">Ascochyta fabae</italic> and Its Abrogation in Sister Taxa by Wonyong Kim, Judith Lichtenzveig, Robert A. Syme, Angela H. Williams, Tobin L. Peever, Weidong Chen

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PMS2 germline mutation c.943C>T (p.Arg315*)‐induced Lynch syndrome‐associated ovarian cancer by Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu

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Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors by Meiqiongzi Zhang, Angelos Heldin, Mireia Palomar-Siles, Susanne Öhlin, Vladimir J. N. Bykov, Klas G. Wiman

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A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report by Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang

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De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures by Ping Yang, Ping Yang, Robert Broadbent, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie, Joan H. Knoll, Joan H. Knoll, Asuri N. Prasad

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A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy by Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster

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Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report by Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen

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Isolated brachydactyly type E caused by a <it>HOXD13 </it>nonsense mutation: a case report by Jamsheer Aleksander, Sowińska Anna, Kaczmarek Leszek, Latos-Bieleńska Anna

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