Search Result "missense mutations"


Impact of Splicing Factor Mutations on Pre-mRNA Splicing in the Myelodysplastic Syndromes

Journal: Current Pharmaceutical Design
Volume: 22 Issue: 1 Year: 2016 Page: 2333-2344
Author(s): Bon Ham Yip, Hamid Dolatshad, Swagata Roy, Andrea Pellagatti, Jacqueline Boultwood

Chemoresistance of Cancer Cells: Oncogenic Mutation of the p53 Tumor Suppressor Gene

Journal: Current Signal Transduction Therapy
Volume: 11 Issue: 1 Year: 2016 Page: 3-8
Author(s): Daisuke Uchida,Hitoshi Kawamata,Fujiyuki Inaba,Ichio Fukasawa,Takahiro Fujimori

Engineering Human Urate Oxidase: Towards Reactivating It as an Important Therapeutic Enzyme

Journal: Current Pharmaceutical Biotechnology
Volume: 17 Issue: 2 Year: 2016 Page: 141-146
Author(s): Fatemeh Dabbagh,Mohammad B. Ghoshoon,Shiva Hemmati,Mozhdeh Zamani,Milad Mohkam,Younes Ghasemi

Research Article

Application of Bioinformatics to Investigate the Mutant Alleles of Multiple Endocrine Neoplasia Type 1 on its Structure, Function and Stability

Journal: Current Chemical Biology
Volume: 10 Issue: 2 Year: 2016 Page: 142-148
Author(s): Muhammad A. Hassan, Muhammad Qasim, Aqib Z. Khan, Mohsin A. Nasir, Mohammad Bilal, Simon Manzoor

Review Article open access plus

Pharmacological Chaperones that Protect Tetrahydrobiopterin Dependent Aromatic Amino Acid Hydroxylases Through Different Mechanisms

Journal: Current Drug Targets
Volume: 17 Issue: 1 Year: 2016 Page: 1515-1526
Author(s): Magnus Hole, Ana Jorge-Finnigan, Jarl Underhaug, Knut Teigen, Aurora Martinez

Review Article

Mutagenesis and TILLING to Dissect Gene Function in Plants

Journal: Current Genomics
Volume: 17 Issue: 6 Year: 2016 Page: 499-508
Author(s): Zerihun Tadele

Review Article

Emerging Role for RBM20 and its Splicing Substrates in Cardiac Function and Heart Failure

Journal: Current Pharmaceutical Design
Volume: 22 Issue: 3 Year: 2016 Page: 4744-4751
Author(s): Jipeng Ma, Linhe Lu, Wei Guo, Jun Ren, Jian Yang

Review Article

Natural and Unnatural Compounds Rescue Folding Defects of Human Alanine: Glyoxylate Aminotransferase Leading to Primary Hyperoxaluria Type I

Journal: Current Drug Targets
Volume: 17 Issue: 1 Year: 2016 Page: 1482-1491
Author(s): Elisa Oppici, Riccardo Montioli, Mirco Dindo, Barbara Cellini

Review Article

Human Induced Pluripotent Stem Cells for Inherited Cardiovascular Diseases Modeling

Journal: Current Stem Cell Research & Therapy
Volume: 11 Issue: 7 Year: 2016 Page: 533-541
Author(s): Wenjian Jiang,Feng Lan,Hongjia Zhang

The Roles of Chromatin Remodeling Proteins in Cancer

Journal: Current Protein & Peptide Science
Volume: 17 Issue: 5 Year: 2016 Page: 446-454
Author(s): Chun Zhang,Jie Lu,Pingyu Zhang

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