A5089450597- Bioinformatics and Genomic Networks
- Connective tissue disorders research
- RNA modifications and cancer
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Bone and Dental Protein Studies
- Growth Hormone and Insulin-like Growth Factors
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Acute Myeloid Leukemia Research
- Protease and Inhibitor Mechanisms
- Cell Adhesion Molecules Research
- MicroRNA in disease regulation
- Cancer-related gene regulation
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Genetics, Bioinformatics, and Biomedical Research
- Ubiquitin and proteasome pathways
- Protein Degradation and Inhibitors
- Cholesterol and Lipid Metabolism
- Adipokines, Inflammation, and Metabolic Diseases
- Connexins and lens biology
- Apelin-related biomedical research
- Congenital heart defects research
Istanbul University
2015-2024
University of Pittsburgh
2018-2022
Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into function. However, the variants identified fall predominantly in non-coding regions their underlying mechanisms remain unclear. Here, we identify putative functional coding variation changes interval duration by combining Illumina HumanExome BeadChip genotype data from 77,898 participants of European...
The embryonic extracellular matrix (ECM) undergoes transition to mature ECM as development progresses, yet few mechanisms ensuring proteostasis during this period are known. Fibrillin microfibrils macromolecular complexes serving structural and regulatory roles. In mice, Fbn1 Fbn2, encoding the major microfibrillar components, strongly expressed embryogenesis, but fibrillin-1 is component observed in adult tissue microfibrils. Here, analysis of Adamts6 Adamts10 mutant mouse embryos, lacking...
ATP binding cassette transporter A1 (ABCA1) controls the reverse cholesterol transport. Some ABCA1 variants are correlated with serum high-density lipoprotein (HDL-C) and other lipid concentrations. We aimed to explore relationship of gene both profile coronary heart disease (CHD) risk.Selected 627 individuals Turkish Adult Risk Factor Study were genotyped for R219K polymorphism using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. Student's t-test,...
RORα is a member of nuclear receptor superfamily transcription factors, which has vital role in the regulation various physiological processes. Cholesterol known ligand and one key components that take part cardiovascular diseases such as atherosclerosis. Therefore, it possible might have development To test this hypothesis, we investigated presence novel response elements (ROREs) located promoter CYP19A1, MIF ABCA1 genes. Briefly, occupancy regions these genes was demonstrated THP-1 HUVEC...
Background Nitric oxide (NO) plays a major role in the regulation of endothelial functions and reduced NO synthesis has been implicated development coronary atherosclerosis. Endothelial nitric synthase (eNOS) intron 4a/b polymorphism shown to be related plasma concentrations artery disease various population studies. The aim this study is assess relationship between eNOS premature CAD.Material methods A total 70 patients under age 35 who presented with ST-segment elevation myocardial...
Abstract Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis lethal deformation sequence. We hereby present series 26 fetuses displaying severe MCC phenotypes 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, genetic investigations. Most common findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios...
The observation that Bop null allele mice show underdeveloped right ventricle and excessive development of left ventricle, suggests the possible relationship between human BOP gene hypertrophic cardiomyopathy (HCMP). In our study, we investigated this variations QT dispersion, a noninvasive arrhythmic risk marker for HCMP.This cross-sectional study consisted 50 patients clinically diagnosed with HCMP 60 healthy subjects. Exonic regions were amplified by polymerase chain reaction exonic...
Progranulin (GRN) gene mutations are a major cause of frontotemporal dementia (FTD). Most identified to date null mutations, which predicted the pathology via haploinsufficiency. Decreased peripheral progranulin protein (PGRN) levels associated with presence GR N and accepted as reliable biomarkers. In this study, our aim was test whether specific GRN splice site (c.– 8+2T>G c.708+6_9del), could be by mRNA or levels, studying affected asymptomatic individuals from FTD families. We also...
Homeodomain Only Protein X (HOPX) is an unusual homeodomain protein which regulates Serum Response Factor (SRF) dependent gene expression. Due to the regulatory role of HOPX on SRF activity and cardiac hypertrophy, we aimed investigate relationship between variations hypertrophic cardiomyopathy (HCM).In this study, designed as a case-control analyzed coding flanking non-coding regions through 67 patients with HCM 31 healty subjects. Certain were investigated by Single Stranded Conformation...
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components predominantly associated with pathogenic variants shown nuclear or mitochondrial genomes that affect vital respiratory chain function. The development high-throughput sequencing technologies has accelerated elucidation etiology many previously remained undiagnosed. Methods: Thirty affected...
<b><i>Introduction:</i></b> Pathogenic biallelic <i>RNPC3</i> variants cause congenital hypopituitarism (CH) with cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical molecular characteristics of 2 patients CH neuropathy. <b><i>Materials Methods:</i></b> Proband was evaluated by clinical, laboratory, radiological exams,...
The SET gene is a target of chromosomal translocations in acute leukemia and encodes widely expressed multifunctional phosphoprotein. It has been shown that upregulated BCR-ABL1-positive cell lines, patient-derived chronic myeloid CD34-positive cells, some solid tumors.We determined the expression level 59 pediatric lymphoblastic patients who were BCR-ABL-negative using quantitative real-time reverse-transcriptase-polymerase chain reaction. Results. We showed was significantly 96.5% B-acute...
Aims and background The SET gene is a target of chromosomal translocations in acute leukemia encodes widely expressed multifunctional phosphoprotein. It has been shown that upregulated BCR-ABL1-positive cell lines, patient-derived chronic myeloid CD34-positive cells, some solid tumors. Methods study design We determined the expression level 59 pediatric lymphoblastic patients who were BCR-ABL-negative using quantitative real-time reverse-transcriptase-polymerase chain reaction. Results...
Background Little is known about the pathogenesis and genetics of coronary artery ectasia (CAE). We studied eNOS gene intron 4a/b polymorphism in this patient population.Methods The study group included 30 patients with non-obstructive CAD besides CAE on angiogram performed due to positive non-invasive diagnostic test results. control 20 normal arteries. Agarose gel electrophoresis was used identify polymorphisms.Results Only one vessel involved most cohort left anterior descending (LAD)...
Multiple congenital contractures (MCC) comprise a number of rare, non-progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half the affected individuals, attributed to defects formation functioning central peripheral nervous system, neuromuscular junctions, skeletal muscles, connective tissue. Ubiquitin-specific protease 14 (USP14) encodes major proteasome-associated deubiquitinating enzyme with an dual role as...
Abstract The embryonic extracellular matrix (ECM) undergoes transition to mature ECM as development progresses, yet specific mechanisms ensuring proteostasis and their regulatory impact are poorly defined. Fibrillin microfibrils macromolecular complexes serving structural roles. In mice, Fbn1 Fbn2, encoding major microfibrillar components, strongly expressed during embryogenesis, but fibrillin-1 is the component observed in adult tissue microfibrils. Here, analysis of mouse Adamts6 Adamts10...