نتایج جستجو برای: variants

تعداد نتایج: 108401  

Mediator complex subunit 12 (MED12) is a part of the mediator complex, which is believed to regulate transcription. MED12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different populations. This study aimed to analyze MED12 mutations in Senegalese population. MED12 was sequenced in the tumoral tissues and blood samples of S...

The requirement of varying doses of warfarin for different individuals can be explained by environmental and genetic factors. We evaluated the frequency of vitamin K epoxide reductase complex subunit 1 (VKORC1) and cytochrome P450 2C9 (CYP2C9) variants together with patientdemographic characteristics and investigated their association with warfarin dose requirement with the ob...

Introduction: Abortion is a common complication that refers to the early termination of pregnancy with the death of the fetus before the 20th week of pregnancy. Previous studies show that many genes are involved in this disease, including the CX3CR1 gene, which is one of the inflammatory response genes in the immune system. The pathogenicity of these variants was determined in this study using ...

2010
Mahendra Nakarani Priyal Patel Jayvadan Patel Pankaj Patel Rayasa S. R. Murthy Subhash S. Vaghani

Cyclosporine A-nanosuspensions were prepared using zirconium oxide beads as a milling media, Poloxamer 407 as a stabilizer and distilled water as an aqueous medium using the Pearl Milling technique. The optimized formulation was characterized in terms of particle size distribution, surface morphology, drug-surfactant interaction, drug content, saturation solubility, osmolarity, and stability. T...

Journal: :Biological & pharmaceutical bulletin 2014
Makoto Miyazaki Chisako Nishimura Minori Minamida Kazunori Iwanaga Masawo Kakemi

Etoposide and morphine are well known P-glycoprotein (P-gp) substrates. The pharmacokinetic effect of morphine on plasma etoposide concentration after the oral concomitant use of etoposide and morphine in rats was assessed using a population analysis approach. A P-gp substrate quinidine and the anticholinergic drug propantheline were also administered with etoposide to compare with the effects ...

2003
Iwona Miliszewska Anne Venables

An Intelligent Systems subject is offered in the final year of the Computer Science degree. The subject includes a diverse selection of topics in artificial intelligence and intelligent agents. The paper reflects on an innovative approach to the implementation of this subject. The development of the approach drew on educational research and the Informing Science paradigm. The aims of the approa...

2012
Ildikó Kasza György Várady Hajnalka Andrikovics Magdalena Koszarska Attila Tordai George L. Scheffer Adrienn Németh Gergely Szakács Balázs Sarkadi

We have developed a rapid, simple and reliable, antibody-based flow cytometry assay for the quantitative determination of membrane proteins in human erythrocytes. Our method reveals significant differences between the expression levels of the wild-type ABCG2 protein and the heterozygous Q141K polymorphic variant. Moreover, we find that nonsense mutations on one allele result in a 50% reduction ...

2000
Rafael Caballero Francisco Javier López-Fraguas Mario Rodríguez-Artalejo

Traditional debugging techniques are not well suited for lazy functional programming, because of the diicult-to-predict evaluation order. Therefore, declarative debugging techniques have been proposed, which allow to focus on the intended meaning of programs, abstracting away operational concerns. Similar techniques are known also for logic programming and for combined functional logic language...

Journal: :مجله بین المللی زیست و زیست پزشکی 0
bineta kénémé département de biologie animale, faculté des sciences et techniques, université cheikh anta diop, dakar, sénégal fatimata mbaye département de biologie animale, faculté des sciences et techniques, université cheikh anta diop, dakar, sénégal sidy ka faculté de médecine de pharmacie et d’odontologie, université cheikh anta diop, dakar, sénégal balla diop hôpital militaire de ouakam, dakar, sénégal ahmadou dem faculté de médecine de pharmacie et d’odontologie, université cheikh anta diop, dakar, sénégal mbacké sembène institut de recherche pour le développement, campus bel-air, université cheikh anta diop, dakar, sénégal

mediator complex subunit 12 (med12) is a part of the mediator complex, which is believed to regulate transcription. med12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different populations. this study aimed to analyze med12 mutations in senegalese population. med12 was sequenced in the tumoral tissues and blood samples of s...

Journal: :genetics in the 3rd millennium 0
zahra , kalhor zohreh fattahi mahsa fadaee raheleh vazehan elham parsimehr

neuromuscular disorders (nmds) include a broad range of diseases affecting muscles, nerves and neuromuscular junctions. approximately 761 different disorders occur in this group which is subdivided into 16 different subgroups with 406 known genes. nmds are genetically and clinically heterogeneous conditions. the advent of next generation sequencing (ngs) approaches has accelerated the pace of d...

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