Güncel Gönderiler: Moleküler Biyoloji ve Genetik Bölümü / Department of Molecular Biology and Genetics
Toplam kayıt 74, listelenen: 41-60
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HNF1A-MODY Mutations in Nuclear Localization Signal Impair HNF1A-Import Receptor KPNA6 Interactions
(Springer, 2021)Mutations in hepatocyte nuclear factor (HNF)1A gene cause the most common form of Maturity-onset diabetes of the young (MODY), a monogenic subtype of diabetes mellitus. Functional characterization of mutant proteins reveals ... -
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 ... -
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 ... -
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 ... -
Functional Characterization of the Type 1 VWD Candidate VWF Gene Variants: P.M771I, p.L881R, p.P1413L, and p.Q1475X
(AMER SOC HEMATOLOGY, 2012)… -
Ex-Proof Materials and Regulations in Turkey
(STEF92 TECHNOLOGY LTD, 2014)Atmospheric Explosion is crucial point in occupational safety in modern industrilized economy. That is because ex-proof materials should be used in the explosive environments. Legistlation and governmental regulations aim ... -
Neuroprotective strategies against calpain-mediated neurodegeneration
(DOVE MEDICAL PRESS LTD, 2015)Calpains are calcium-dependent proteolytic enzymes that have deleterious effects on neurons upon their pathological over-activation. According to the results of numerous studies to date, there is no doubt that abnormal ... -
Identification of novel vwf gene mutations in the Turkish type 2 VWD patient population
(Wiley Blackwell, 2015)… -
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 ... -
Lack of association of plasma factor XI with bleeding and report of two novel factor VII mutations
(Pergamon-Elsevier Science, 2016)7th International Eurasian Hematology Congress -
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 ... -
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, ... -
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). ... -
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 ... -
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 ... -
A correlation between the genotype and clinical course in hemophilia B patients
(Wiley, 2018-02)… -
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. ... -
Improving of stability of formate dehydrogenase from candida methylica by immobilization onto eupergit C 250 L
(Pleiades Publishing, 2016)…