نتایج جستجو برای: pc mutation
تعداد نتایج: 331855 فیلتر نتایج به سال:
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epidermal cysts. Although the ...
Vandetanib is a novel multitarget tyrosine kinase inhibitor (TKI) that inhibits vascular endothelial growth factor receptor-2 (VEGFR-2), with additional inhibition of epidermal growth factor receptor (EGFR) and rearranged during transfection receptor signaling, which has shown promising results in clinical trials for advanced non-small cell lung cancer. However, the mechanisms of acquired resis...
BACKGROUND The filamentous fungus Trichoderma reesei (anamorph of Hypocrea jecorina) produces increased cellulase expression when grown on cellulose or its derivatives as a sole carbon source. It has been believed that β-glucosidases of T. reesei not only metabolize cellobiose but also contribute in the production of inducers of cellulase gene expression by their transglycosylation activity. Th...
BACKGROUND Hepatitis B virus (HBV) infection is an important health concern worldwide, with critical outcomes. Hepatitis B e antigen (HBeAg) negative chronic hepatitis B is frequently caused by a mutation (G1896A) in the hepatitis B virus (HBV) precore (PC) reading frame, which creates a stop codon, causing premature termination of the HBe protein. OBJECTIVES This study aimed to investigate t...
ABSTRACT Background and objectives: Globally, about one third of the population has been infected with Hepatitis B virus (HBV) and more than 400 million people have become chronically infected. Nearly, 20-25% of all carriers develop serious liver diseases such as cirrhosis, chronic hepatitis and hepatocellular carcinoma (HCC). According to t...
OBJECTIVE Hepatitis B virus (HBV) has been classified into 8 genotypes that have different geographic distributions. The clinical outcomes of acute hepatitis are dependent on genotype. The aim of this study was to investigate the distribution of HBV subgenotypes and basal core promoter (BCP)/precore (PC) regions in acute hepatitis patients in Central Vietnam to clarify the distributions and the...
Many applications have stimulated the recent surge of interest single-chip parallel processing. In such machines, it is crucial to implement a high-throughput low-latency interconnection network to connect the on-chip components, especially the processing units and the memory units. In this paper, we propose a new mesh of trees (MoT) implementation of the interconnection network and evaluate it...
Protein C (PC) is an essential vitamin K-dependent protein that regulates thrombosis and hemostasis in the body. A mutation PROC gene on chromosome 2q14.3 results PC deficiency. The clinical presentation of deficiency can vary, ranging from a single vein to disseminated intravascular coagulation, purpura fulminans, or even life-threatening complications such as sepsis. Here, we present case 37-...
BACKGROUND Protein C (PC) deficiency is associated with a high risk of venous thrombosis. Recently, we identified the PC-A267T mutation in a patient with PC deficiency and revealed by in vitro studies decreased intracellular and secreted levels of the mutant. The aim of the present study was to characterize the underlying mechanism(s). METHODOLOGY/PRINCIPAL FINDINGS CHO-K1 cells stably expres...
Background: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case being reported for its rarity. To the best...
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