Search Result "nonsense mutation"
Therapeutic Suppression of Nonsense Mutation: An Emerging Target in Multiple Diseases and Thrombotic Disorders
Journal: Current Pharmaceutical Design
Volume: 23 Issue: 11 Year: 2017 Page: 1598-1609
Author(s): Md. Asiful Islam,Fahmida Alam,Mohammad Amjad Kamal,Siew Hua Gan,Kah Keng Wong,Teguh Haryo Sasongko
Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome
Journal: Current Gene Therapy
Volume: 17 Issue: 1 Year: 2017 Page: 50-58
Author(s): Siyong Teng,Jian Huang,Zhan Gao,Jie Hao,Yuejin Yang,Shu Zhang,Jielin Pu,Rutai Hui,Yongjian Wu,Zheng Fan
Nonsense-Mediated mRNA Decay: A Comparative Analysis of Different Species
Journal: Current Genomics
Volume: 5 Issue: 3 Year: 2004 Page: 175-190
Author(s): L. E. Maquat
Studies on Nonsense Mediated Decay Reveal Novel Therapeutic Options for Genetic Diseases
Journal: Recent Patents on DNA & Gene Sequences (DIscontinued)
Volume: 3 Issue: 1 Year: 2009 Page: 7-15
Author(s): Murali D. Bashyam
Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients
Journal: Current Pharmaceutical Biotechnology
Volume: 14 Issue: 2 Year: 2013 Page: 194-198
Author(s): Fabiana Quoos Mayer,Osvaldo Alfonso Artigalas,Valeska Lizzi Lagranha,Guilherme Baldo,Ida Vanessa Schwartz,Ursula Matte,Roberto Giugliani
Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers
Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 306-311
Author(s): X. Chen,X. Sheng,G. Liu,Y. Liu,H. Li,P. Xie,Q. Liu,B. Yan,C. Zhao
Pharmacological Suppression of Premature Stop Mutations that Cause Genetic Diseases
Journal: Current Pharmacogenomics
Volume: 3 Issue: 4 Year: 2005 Page: 259-269
Author(s): K. M. Keeling, D. M. Bedwell
Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome
Journal: Current Molecular Medicine
Volume: 18 Issue: 3 Year: 2018 Page: 152-159
Author(s): B. Lin,B. Zeng,J. Zhao,T. Xu,Y. Wang,B. Hu,F. Li,Q. Zhao,R. Liu,J. Liu,J.M. Chen,D. Huang,Y. Wang
Determination of Mutation Trend in Hemagglutinins by Means of Translation Probability Between RNA Codons and Mutated Amino Acids
Journal: Protein & Peptide Letters
Volume: 13 Issue: 6 Year: 2006 Page: 601-609
Author(s): Guang Wu, Shaomin Yan
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boywith Hypophosphatemic Rickets
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 9 Year: 2023 Page: 1235-1239
Author(s): Margherita Lucia De Bernardi,Matteo Della Monica