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Toplam kayıt 31, listelenen: 21-30
De novo 8p23.1 deletion in a patient with absence epilepsy
(John Libbey Eurotext, 2017)
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, ...
Semi-rational design of geobacillus stearothermophilus l-lactate dehydrogenase to access various chiral ?-hydroxy acids
(Springer, 2016)
Chiral ?-hydroxy acids (AHAs) are rapidly becoming important synthetic building blocks, in particular for the production of pharmaceuticals and other fine chemicals. Chiral compounds of a variety of functionalities are now ...
The molecular genetics of von willebrand disease
(2012)
Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic ...
Easy stabilization of interfacially activated lipases using heterofunctional divinyl sulfone activated-octyl agarose beads. Modulation of the immobilized enzymes by altering their nanoenvironment
(Elsevier, 2016)
Octyl-agarose is a support that permits the one step immobilization, stabilization and purification of lipases. However, the enzyme may be released from the support under drastic conditions. This paper describes a new ...
Effect of Plant Oil-Based Crosslinker on Drug Release Behaviour of Hydrogels
(IEEE, 2017)
Thermoresponsive hydrogels have great potential in biomedical applications such as drug delivery systems and tissue engineering. Synthesis of hydrogels from renewable resources attracts attention day by day. In this study ...
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
(Elsevier, 2016)
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard ...
Higher expression of the novel gene upregulated gene 4 in two acute lymphoblastic leukemia patients with poor prednisolone response
(Karger, 2012)
Elucidation of the molecular mechanisms of leukemogenesis is important for a better understanding of the prognosis of acute lymphoblastic leukemia (ALL). Studies have shown that the expression of upregulated gene 4 (URG4), ...
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
(Elsevier, 2012)
Idiopathic absence epilepsies (IAE), that have high prevalence particularly among children and adolescents, are complex disorders mainly caused by genetic factors. Childhood absence epilepsy and juvenile absence epilepsy ...
Computational investigation of influenza A virus M2 protein inhibition mechanism by ion channel blockers
(Scientific Technical Research Council Turkey-TUBITAK, 2019)
The M2 protein of the influenza A virus, responsible for flu, is a homotetramer transmembrane protein, forming a transmembrane ion channel, where His 37s act as pH sensors and Trp 41s and Asp 44s act as channel gates. ...
Exploring the role of miRNAs in the diagnosis of MODY3
(TUBITAK, 2018)
Background/aim: MODY3 associated with HNF1A is the most common form of MODY and is clinically misdiagnosed as type 1 diabetes due to similar clinical symptoms. This study aimed to analyze the role of HNF1A-regulated miRNAs ...