Browsing Temel Tıp Bilimleri Bölümü Makale Koleksiyonu by Department "Tıbbi Biyoloji"
Now showing items 1-20 of 41
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A Comparison of Different Irrigation Systems and Gravitational Effect on Final Extrusion of the Irrigant
(2015)Background The aim of this study was to compare manual needle irrigation (MNI), RinsEndo (RE), and passive ultrasonic irrigation (PUI), and assess the effect of gravity on extrusion from the apex in vitro. Material and ... -
Aryl Butenoic Acid Derivatives As A New Class Of Histone Deacetylase Inhibitors: Synthesis, In Vitro Evaluation, And Molecular Docking Studies
(Scientific Technical Research Council Turkey-Tubitak, 2014)New aryl butenoic acid derivatives have been synthesized by combining hydroxy- or methoxy-substituted phenyl rings as the capping group, with a double bond in the short linker as well as metal binding groups, enoic ester, ... -
Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1Q42
(Univ Chicago Press, 2000)We have previously reported an autosomal recessive form of congenital muscular dystrophy, characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine, and contractures of the tendo ... -
Association of Cystic Fibrosis Genetic Modifiers with Congenital Bilateral Absence of the Vas Deferens
(Elsevier Science Inc, 2010)Objective: To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance ... -
Carboxylic Acid Derivatives of Histone Deacetylase Inhibitors Induce Full Length Smn2 Transcripts: A Promising Target For Spinal Muscular Atrophy Therapeutics
(2011)Introduction Proximal spinal muscular atrophy (SMA) is a common autosomal recessively inherited neuromuscular disorder. It is caused by homozygous absence of the survival motor neuron 1 (SMN1) gene. SMN2, which modulates ... -
Class I Histone Deacetylase Inhibition By Aryl Butenoic Acid Derivatives: In Silico And In Vitro Studies
(2019)Histone deacetylases (HDAC) are evolutionary conserved enzymes, which catalyze removal of acetyl groups from histone and non-histone proteins, therefore, control multiple biological processes. Inhibition of their activities ... -
Clinical Long-Time Course, Novel Mutations And Genotype-Phenotype Correlation In A Cohort Of 27 Families With Pomt1-Related Disorders
(2019)Background The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1–related disorders belong to the group of dystroglycanopathies characterized by a ... -
Comparison Of Intravenous Versus Intraperitoneal Interleukin-10 Gene Delivery In Mouse Model Of Sepsis
(Kafkas Univ, Veteriner Fakultesi Dergisi, 2013)The most novel approach utilizing IL-10 in sepsis is IL-10 gene delivery in experimental model of sepsis. In our study, we aimed to compare kinetics of intravenous versus intraperitoneal delivery of IL-10 gene transfer in ... -
Epma-World Congress 2015
(SpringerLink, 2016)A1 Predictive and prognostic biomarker panel for targeted application of radioembolisation improving individual outcomes in hepatocellular carcinoma, Jella-Andrea Abraham, Olga Golubnitschaja, A2 Integrated market access ... -
Exome Sequencing Reveals Cubilin Mutation As A Single-Gene Cause Of Proteinuria
(Amer Soc Nephrology, 2011)In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively ... -
Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ... -
Genetic Analysis Of Chst6 And Tgfbi In Turkish Patients With Corneal Dystrophies: Five Novel Variations In Chst6
(2016)Purpose To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). Methods In this study, patients ... -
Genetic Testing: Predictive Value Of Genotyping For Diagnosis And Management Of Disease
(2011)This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human ... -
Genome-Wide Screen for MicroRNAs Reveals a Role for miR-203 in Melanoma Metastasis
(Elsevier Science Inc, 2018)Melanoma is one of the deadliest human cancers with limited therapeutic options. MicroRNAs are a class of short noncoding RNAs regulating gene expression at the post-transcriptional level. To identify important miRNAs in ... -
Identification Of Two Novel Pnpla1 Mutations In Turkish Families With Autosomal Recessive Congenital Ichthyosis
(Turkish J Pediatrics, 2017)Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including ... -
Impairment Of Lipophagy By Pnpla1 Mutations Causes Lipid Droplet Accumulation In Primary Fibroblasts Of Autosomal Recessive Congenital Ichthyosis Patients
(2019)Background: Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays ...
