Yayın tarihi için Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 61, listelenen: 1-20
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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 ... -
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 ... -
A common VWF exon 28 haplotype in the Turkish population
(Elsevier, 2013)An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated ... -
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation
(SIMTI servizi, 2014)… -
Characterization of a new acidic NAD(+)-dependent formate dehydrogenase from thermophilic fungus Chaetomium thermophilum
(ELSEVIER SCIENCE BV, 2015)NAD(+)-dependent formate dehydrogenase (FDH) enzyme catalyses the NAD(P)(+)-dependent interconversion of formate anion to carbon dioxide coupled with the conversion of NAD(P)(+) to NAD(P)H. NADH is widely used as cofactor ... -
Highly stable and reusable immobilized formate dehydrogenases: Promising biocatalysts for in situ regeneration of NADH
(2016)This study aimed to prepare robust immobilized formate dehydrogenase (FDH) preparations which can be used as effective biocatalysts along with functional oxidoreductases, in which in situ regeneration of NADH is required. ... -
Mechanisms of peptide hydrolysis by aspartyl and metalloproteases
(Royal Society of Chemistry, 2016)Peptide hydrolysis has been involved in a wide range of biological, biotechnological, and industrial applications. In this perspective, the mechanisms of three distinct peptide bond cleaving enzymes, beta secretase (BACE1), ... -
Improving of stability of formate dehydrogenase from candida methylica by immobilization onto eupergit C 250 L
(Pleiades Publishing, 2016)… -
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 ... -
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 ... -
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 ... -
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L
(SIMTI Servizi, 2017)Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ... -
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, ... -
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 ... -
Computational insight into the phthalocyanine-DNA binding via docking and molecular dynamics simulations
(Elsevier, 2018-12)Phthalocyanines are considered as good DNA binders, which makes them promising anti-tumor drug leads. The purpose of this study is to investigate the interactions between DNA and quaternary metallophthalocyanine derivatives ... -
Novel N-(1-thia-4-azaspiro[4.5]decan-4-yl)carboxamide derivatives as potent and selective influenza virus fusion inhibitors
(Wiley, 2019)Hemagglutinin is the surface protein of the influenza virus that mediates both binding and penetration of the virus into host cells. We here report on the synthesis and structure-activity relationship of some novel ... -
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. ... -
p60-katanin: a novel interacting partner for p53
(Springer, 2020)Katanin, one of the best-characterized microtubule (MT) severing proteins, is composed of two subunits: catalytic p60-katanin, and regulatory p80-katanin. p60-katanin triggers MT reorganization by severing them. MT ... -
Whole exome sequencing reveals novel candidate gene variants for MODY
(Elsevier, 2020)Maturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. In this ...
