نتایج جستجو برای: activating mutation

تعداد نتایج: 342144  

Journal: :Blood 2006
Brandon Triplett Rupert Handgretinger Ching-Hon Pui Wing Leung

1. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;160:2162-2168. 2. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397. 3. Zhao R, Xing S, Li Z, et al. I...

Journal: :Clinical endocrinology 2014
Agnieszka Walczyk Aldona Kowalska Artur Kowalik Jacek Sygut Elżbieta Wypiórkiewicz Renata Chodurska Liliana Pięciak Stanisław Góźdź

CONTEXT An activating mutation in the gene BRAF has been correlated with poorer prognosis and more aggressive clinical course in papillary thyroid carcinoma (PTC). We therefore hypothesized that the good prognosis, high 5-year disease-free rate and high survival rate of patients with less aggressive papillary thyroid microcarcinoma (pT1aNo-x) would be associated with a lower incidence of the BR...

2017
Yong Zhao Lin Lin Yonghui Zhang Dangmurenjiafu Geng

BACKGROUND This study investigated the mechanism underlying the activating mutation of SHP-2 in promoting malignant biological behaviors of glioma cells. MATERIAL AND METHODS The SHP-2 empty plasmid pcDNA3.1 and SHP-2 activating mutation plasmid pcDNA3.1 SHP-2 D61G mutant eukaryotic expression vectors were designed; stable SHP-2-expressing cells transfected with pcDNA3.1 SHP-2 D61G mutant were ...

2016
Yongfeng Wang Long Wang Shan Guan Wenming Cao Hao Wang Zhenghu Chen Yanling Zhao Yang Yu Huiyuan Zhang Jonathan C. Pang Sophia L. Huang Yo Akiyama Yifan Yang Wenjing Sun Xin Xu Yan Shi Hong Zhang Eugene S. Kim Jodi A. Muscal Fengmin Lu Jianhua Yang

ALK receptor tyrosine kinase has been shown to be a therapeutic target in neuroblastoma. Germline ALK activating mutations are responsible for the majority of hereditary neuroblastoma and somatic ALK activating mutations are also frequently observed in sporadic cases of advanced NB. Crizotinib, a first-line therapy in the treatment of advanced non-small cell lung cancer (NSCLC) harboring ALK re...

2013
Hashem A. Dbouk Bassem D. Khalil Haiyan Wu Aliaksei Shymanets Bernd Nürnberg Jonathan M. Backer

The PI3-kinase pathway is commonly activated in tumors, most often by loss of PTEN lipid phosphatase activity or the amplification or mutation of p110α. Oncogenic mutants have commonly been found in p110α, but rarely in any of the other catalytic subunits of class I PI3-kinases. We here characterize a p110β helical domain mutation, E633K, first identified in a Her2-positive breast cancer. The m...

Journal: :Indian Journal of Animal Sciences 2023

Heat shock proteins (HSPs) associated with stress reactions play an important role in cell survival by activating numerous regulatory and inducing black apoptosis. This study aimed to identify the potential SNPs of HSP70 gene Kacang goats Indonesia. Forty-three were selected from Sidoarjo Tulungagung districts. The DNA isolated blood samples was successfully amplified using polymerase chain rea...

Journal: :مجله علوم اعصاب شفای خاتم 0
yasaman behmanesh islamic azad university, mashhad branch, mashhad, iran

multiple sclerosis is an autoimmune disease of the central nervous system which its main characteristic is an inflammation and demyelination and subsequent, neural degeneration. many studies have shown that inflammation causing neuronal demyelination. ms is the most common cause of chronic neurological disability in during youth which the prognosis is that can be death. platelet activating fact...

Journal: :Journal of medical genetics 1998
J Müller B Gondos S Kosugi T Mori A Shenker

Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR). A patient with an unusually early and severe presentation of testotoxicosis, including profound Leydig cell hyperplasia, was found to have a sporadic mutation encoding Asp578-->Tyr. The severe testotoxicosis phenotype appears to be re...

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