Yayıncı "Elsevier" Moleküler Biyoloji ve Genetik Bölümü Makale Koleksiyonu için listeleme
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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 ... -
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 ... -
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 ... -
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 ... -
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 ... -
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 ...