Search Result "mutation"

Research Article

Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

Journal: Current Genomics
Volume: 18 Issue: 1 Year: 2017 Page: 93-103
Author(s): Daniela Alosi,Marie Luise Bisgaard,Sophie Nowak Hemmingsen,Lotte Nylandsted Krogh,Hanne Birte Mikkelsen,Marie Louise Molgaard Binderup

Research Article

Congenital FX Deficiency Rio Tercero: A New Heterozygous Missense Mutation (Cys241Gly) with a Potentiating Effect by a Polymorphism (c. 503-57C>T)#

Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 17 Issue: 2 Year: 2017 Page: 136-141
Author(s): Antonio Girolami,Salvador Minoldo,Silvia Ferrari,Diego Colussi,Anna Maria Lombardi,Hugo Guglielmone

Research Article

Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia

Journal: Current Alzheimer Research
Volume: 14 Issue: 10 Year: 2017 Page: 1102-1108
Author(s): Xiang-Qian Che,Qian-Hua Zhao,Yue Huang,Xia Li,Ru-Jing Ren,Sheng-Di Chen,Gang Wang,Qi-Hao Guo

Research Article

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

Research Article

Mutational Impact on the Interaction Between Human IL27 and gp130: In silico Approach for Defending HIV Infection

Journal: Current HIV Research
Volume: 15 Issue: 5 Year: 2017 Page: 327-335
Author(s): Arundhati Banerjee,Rakhi Dasgupta,Sujay Ray

Research Article

Cystic Fibrosis Mutation Detection with SPR Biosensor in Real Samples via Multiple Surfaces Binding Method

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 20 Issue: 1 Year: 2017 Page: 56-63
Author(s): Yasin Ugur Kayran,Dilsat Ozkan-Ariksoysal,Seda Nur Topkaya,Burcin Tezcanli Kaymaz,Buket Kosova Can

Review Article

Activating Mutations of ESR1, BRCA1 and CYP19 Aromatase Genes Confer Tumor Response in Breast Cancers Treated with Antiestrogens

Journal: Recent Patents on Anti-Cancer Drug Discovery
Volume: 12 Issue: 2 Year: 2017 Page: 136-147
Author(s): Zsuzsanna Suba

Review Article

Neurogenomic Pathway of Autism Spectrum Disorders: Linking Germline and Somatic Mutations to Genetic-Environmental Interactions

Journal: Current Bioinformatics
Volume: 12 Issue: 1 Year: 2017 Page: 19-26
Author(s): Svetlana G. Vorsanova,Yuri B. Yurov,Ivan Y. Iourov

Editorial free to download

Editorial: Proteomic alterations by mutations involved in Parkinsons disease and related disorders

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 654-655
Author(s): F. Cardona, J. Perez-Tur

Review Article

Recent Progress in Mutation-driven Therapy, Immunotherapy and Combination Therapy for the Treatment of Melanoma

Journal: Current Cancer Drug Targets
Volume: 17 Issue: 2 Year: 2017 Page: 137-157
Author(s): Hazem I. Assi,Rita E. Assi

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