نتایج جستجو برای: activating mutation

تعداد نتایج: 342144  

Farzaneh Rabiee, Kamran Ghaedi, Marziyeh Tavalaee, Mohammad Hossein Nasr-Esfahani, Mohammad Reza Deemeh Soudabeh Javadian-Elyaderani

Objective(s): Phospholipase C ζ (PLCζ) is considered as a nominee for sperm associated oocyte activating factors and is located back-to-back with CAPZA3, an actin-capping protein controlling actin polymerization during spermiogenesis. They contain a common bidirectional promoter. The objective of this study was to identify individuals with parallel low expression of PLCζ and CAPZA3 mRNA, in hop...

2014
Jaehyuk Choi Sean F Landrette Tiffany Wang Perry Evans Antonella Bacchiocchi Robert Bjornson Elaine Cheng Amy L Stiegler Symon Gathiaka Orlando Acevedo Titus J Boggon Michael Krauthammer Ruth Halaban Tian Xu

BRAF inhibitors improve melanoma patient survival, but resistance invariably develops. Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing whole-exome sequencing of drug-resistant BRAF(V600K) melanoma cells. We further describe a new screening approach, a genome-wide piggyBac mutagenesis screen that revealed clinically relevant aberrations (N-termi...

Journal: :Clinical genetics 2012
Alireza Baradaran-Heravi

1. Yuan TL, Cantley LC. PI3K pathway alterations in cancer: variations on a theme. Oncogene 2008: 27: 5497–5510. 2. Lindhurst MJ, Sapp JC, Teer JK et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011: 365: 611–619. 3. Kurek KC, Luks VL, Ayturk UM et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012: 90: 11...

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