نتایج جستجو برای: pc mutation

تعداد نتایج: 331855  

2014
Jose L. Izquierdo-Garcia Larry M. Cai Myriam M. Chaumeil Pia Eriksson Aaron E. Robinson Russell O. Pieper Joanna J. Phillips Sabrina M. Ronen Eliana Scemes

BACKGROUND Over 70% of low-grade gliomas carry a heterozygous R132H mutation in the gene coding for isocitrate dehydrogenase 1 (IDH1). This confers the enzyme with the novel ability to convert α-ketoglutarate to 2-hydroxyglutarate, ultimately leading to tumorigenesis. The major source of 2-hydroxyglutarate production is glutamine, which, in cancer, is also a source for tricarboxylic acid cycle ...

2013
Filomena Cetani Chiara Banti Elena Pardi Simona Borsari Paolo Viacava Paolo Miccoli Liborio Torregrossa Fulvio Basolo Maria Rosa Pelizzo Massimo Rugge Gianmaria Pennelli Guido Gasparri Mauro Papotti Marco Volante Edda Vignali Federica Saponaro Claudio Marcocci

Inactivating mutations of the CDC73 tumor suppressor gene have been reported in parathyroid carcinomas (PC), in association with the loss of nuclear expression of the encoded protein, parafibromin. The aim of this study was to further investigate the role of the CDC73 gene in PC and evaluate whether gene carrier status and/or the loss of parafibromin staining might have an effect on the outcome...

2012
Rym Ayari Yousr Lakhoua-Gorgi Lamjed Bouslama Imen Safar Fatma Houissa Kchouk Houda Aouadi Saloua Jendoubi-Ayed Taoufik Najjar Kaled Ayed Taieb Ben Abdallah

BACKGROUND In this study, we evaluated the prevalence of the most common mutations occurring in Enhancer II (EnhII), Basal Core Promoter (BCP), Precore (PC), and Core (C) regions of hepatitis B virus (HBV) genome. OBJECTIVES We also investigated the correlation between HBV variants, their genotypes, and patients' HBe antigen (HBeAg: soluble shape of the capsid antigen) status. PATIENTS AND ...

Journal: :Acta dermatovenerologica Croatica : ADC 2013
Paulo Morais Lígia Peralta Manuela Loureiro Sónia Coelho

Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations. Although classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localizati...

Journal: :gas processing 0
cyrus ghotbi department of chemical and petroleum engineering, sharif university of technology, tehran, iran mohammadali safavi research institute of petroleum industry (ripi), tehran, iran maryam tavakolmoghadam research institute of petroleum industry (ripi), tehran, iran

in this work, the pc-saft equation of state (eos) has been used to model the solubility of acid gases (co2 and h2s) in two imidazolium-based ionic liquids (ils) ([c8-mim][pf6] and [c8-mim][tf2n]). parameters of pure ils were estimated using experimental densities. two strategies were considered to model densities of pure ils. in strategy 1, ils were modeled as nonassociating compounds and in st...

Journal: :Journal of the American Chemical Society 2008
Rinske Hulsker Maria V Baranova George S Bullerjahn Marcellus Ubbink

The nature of transient protein complexes can range from a highly dynamic ensemble of orientations to a single well-defined state. This represents variation in the equilibrium between the encounter and final, functional state. The transient complex between plastocyanin (Pc) and cytochrome f (cytf) of the cyanobacterium Prochlorothrix hollandica was characterized by NMR spectroscopy. Intermolecu...

2015
Mei-Chuan Tang Mei-Yi Wu Ming-Hung Hwang Ya-Ting Chang Hui-Ju Huang Anya Maan-Yuh Lin James Chih-Hsin Yang

Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs), including gefitinib, are effective for non-small cell lung cancer (NSCLC) patients with EGFR mutations. However, these patients eventually develop resistance to EGFR-TKI. The goal of the present study was to investigate the involvement of autophagy in gefitinib resistance. We developed gefitinib-resistant cells (PC-9/gef) ...

Journal: :The Journal of investigative dermatology 2011
Neil J Wilson Sancy A Leachman C David Hansen Alexandra C McMullan Leonard M Milstone Mary E Schwartz W H Irwin McLean Peter R Hull Frances J D Smith

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we...

Journal: :The journal of investigative dermatology. Symposium proceedings 2005
W H Irwin McLean Frances J D Smith Andrew J Cassidy

Keratins are the intermediate filament proteins specifically expressed by epithelial cells. The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal dominant genodermatoses affecting the ...

Journal: :IEEE Trans. Systems, Man, and Cybernetics 1994
M. Srinivas Lalit M. Patnaik

In this paper we describe an efficient approach for solving the economic dispatch problem using Genetic Algorithms (GAs). We recommend the use of adaptive probabilities crossover and mutation to realize the twin goals of maintaining diversity in the population and sustaining the convergence capacity of the GA. In the Adaptive Genetic Algorithm (AGA), the probabilities of crossover and mutation,...

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