Search Result "mutation"


Research Article

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

Research Article

Inhibition of Mutated Isocitrate Dehydrogenase 1 in Cancer

Journal: Medicinal Chemistry
Volume: 14 Issue: 7 Year: 2018 Page: 715-724
Author(s): Fangrui Wu,Gang Cheng,Yuan Yao,Mari Kogiso,Hong Jiang,Xiao-Nan Li,Yongcheng Song

Review Article

Development of Novel Therapeutics Targeting Isocitrate Dehydrogenase Mutations in Cancer

Journal: Current Topics in Medicinal Chemistry
Volume: 18 Issue: 6 Year: 2018 Page: 505-524
Author(s): Horrick Sharma

Research Article

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease

Journal: Current Genomics
Volume: 19 Issue: 1 Year: 2018 Page: 70-75
Author(s): Yuan Wu,Hong Xia,Jinzhong Yuan,Hongbo Xu,Xiong Deng,Jun Liu,Hao Zhang,Hao Deng

Research Article

TARDBP Ala382Thr Mutation in Multiple Sclerosis: A Possible Role in Brain Atrophy

Journal: Current Medical Imaging
Volume: 14 Issue: 1 Year: 2018 Page: 95-98
Author(s): Lorena Lorefice,Giuseppe Fenu,Maria R. Murru,Vincenzo Sechi,Jessica Frau,Giancarlo Coghe,Stefania Cuccu,Stefania Tranquilli,Eleonora Cocco,Maria G. Marrosu

Research Article

Exploring the Influence of Mutation on Transthyretin Aggregation in Heart Disease

Journal: Current Computer-Aided Drug Design
Volume: 14 Issue: 2 Year: 2018 Page: 125-130
Author(s): Ankita Sharma,Monu,Sagarika Biswas

Research Article

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

Review Article

Potential of Liquid Biopsy in Papillary Thyroid Carcinoma in Context of miRNA, BRAF and p53 Mutation

Journal: Current Drug Targets
Volume: 19 Issue: 1 Year: 2018 Page: 1721-1729
Author(s): Ewelina Perdas,Robert Stawski,Dariusz Nowak,Maria Zubrzycka

Research Article

Appearance of Drug Resistance Mutations Among the Dominant HIV-1 Subtype, CRF01_AE in Maumere, Indonesia

Journal: Current HIV Research
Volume: 16 Issue: 2 Year: 2018 Page: 158-166
Author(s): Dwi Wahyu Indriati,Tomohiro Kotaki,Siti Qamariyah Khairunisa,Adiana Mutamsari Witaningrum,Muhammad Qushai Yunifiar Matondang,Shuhei Ueda,Nasronudin,Asep Purnama,Dwi Kurniawan,Masanori Kameoka

Review Article

Mutations of Nuclear and Mitochondrial Genomes as Potential Targets for the Treatment of Metabolic Syndrome

Journal: Current Pharmaceutical Design
Volume: 24 Issue: 1 Year: 2018 Page: 1711-1716
Author(s): Elena V. Galitsyna,Andrey V. Zhelankin,Igor A. Sobenin,Alexander N. Orekhov

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