A5070355672- Prenatal Screening and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Thyroid Disorders and Treatments
- Cystic Fibrosis Research Advances
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Glycosylation and Glycoproteins Research
- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- Parvovirus B19 Infection Studies
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Kidney Cyst Diseases
- Pancreatic function and diabetes
- Mitochondrial Function and Pathology
- Neonatal and Maternal Infections
- Inflammasome and immune disorders
- Pregnancy and preeclampsia studies
- Neurological diseases and metabolism
- Sexual Differentiation and Disorders
- Thyroid Cancer Diagnosis and Treatment
Izmir University
2018-2025
Sağlık Bilimleri Üniversitesi
2018-2025
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2014-2024
University of Health Science
2024
Antalya IVF
2004-2020
Intergen (Turkey)
2020
Dokuz Eylül University
2019
Medical Genetics Center
2013-2018
Izmir Kâtip Çelebi University
2018
Ege University
2010-2017
Toll-like receptor 2 (TLR2), a member of the family, plays an important role in recognition of, and subsequent immune response activation against, mycobacteria. The genetic polymorphism TLR2 (arginine to glutamine substitution at residue 753 (Arg753Gln)) has been associated with negative influence on function, which may, turn, determine innate host aim present study was investigate Arg753Gln single nucleotide gene tuberculosis (TB) patients compared healthy controls. A retrospective...
Limb-girdle muscular dystrophy (LGMD) is the fourth most common dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because this, use high-throughput methods such as next-generation sequencing (NGS) important in evaluation LGMD.In this report, we applied custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32,...
Introduction Lung cancer (LC) is a leading cause of cancer-related mortality worldwide. Approximately 80% LC cases are the non-small cell lung (NSCLC) type, and approximately two-thirds these diagnosed in advanced stages. Only systemic treatment methods can be applied to patients stages when there no chance surgical treatment. Identification mutations that vital importance determining appropriate methods. New noninvasive needed repeat monitor molecular analyses. In this regard, liquid biopsy...
Abstract Background and Objectives: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by genetic clinical diversity. It often overlaps with other neurological conditions, such as cerebellar ataxia, which complicates diagnosis highlights the importance molecular testing. This study aimed to investigate basis HSP in patients suspicion identifying germline mutations HSP-related genes expanding spectrum disease through discovery novel variants. Methods:...
Background Maturity-onset diabetes of the young (MODY) is a common form monogenic diabetes. Fourteen genes have been identified, each leading to cause different type MODY. The aims this study were reveal both known and novel variants in MODY patients with using targeted next generation sequencing (NGS) present genotype-phenotype correlations. Methods Mutation analysis (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS KCNJ11) was performed NGS 106 clinical diagnosis evaluated according American College...
SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, reverse normal or slightly elevated thyrotropin. He also had attention-deficit disorder muscle weakness but no delay growth bone age. Sequencing of genomic DNA revealed novel c.800_801insA, p.K267Kfs*2 mutation, homozygous...
The demand for Janus Kinase-2 ( JAK2 ) testing has been disproportionate to the low yield of positive results, which highlights need more discerning test strategies. aim this study is introduce an artificial intelligence application as a rational approach mutations in cases erythrocytosis. Test results were sourced from samples sent tertiary hospital’s genetic laboratory between 2017 and 2023, meeting 2016 World Health Organization criteria V617F mutation testing. Somatic Mutation Screening...
The aim of this study was to evaluate the relationship between keratoconus (KC) and interleukin-1β (IL1 β) (-511C>T) interleukin-1 receptor antagonist (IL1RN) variable number tandem repeat (VNTR) polymorphisms that are potentially associated in their genetic susceptibility KC.A total 121 patients with KC healthy individuals were enrolled. Blood samples ethylenediamine tetraacetic acid obtained, IL1β (rs16944) (polymerase chain reaction-restriction fragment length polymorphism method) IL1RN...
Pathogenic variants in SURF1, a nuclear-encoded gene encoding mitochondrial chaperone involved COX assembly, are one of the most common causes Leigh syndrome (LS). Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included study. Their clinical, biochemical molecular findings recorded. 10/16 using whole-exome sequencing (WES), 4/16 by Sanger 1/16 via targeted exome patient with whole-genome (WGS). The pathogenicity SURF1 was evaluated phylogenetic studies...
Preterm neonates are susceptible to infection due a combination of sub-optimal immunity and increased exposure invasive organisms. Invasive fungal infections associated with significant morbidity mortality among preterm infants cared for in the neonatal intensive care unit (NICU). Mannose-binding lectin (MBL) is component innate immune system, which may be especially important setting. The objective this study was investigate presence any association between MBL gene polymorphism nosocomial...
The aim of this study was to determine the frequencies chromosomal abnormalities and Y-chromosome microdeletions in Turkish cases with primary male infertility a single center.Chromosomal were investigated 1696 between 2012 2017. Karyotype analyzes [azoospermia factor (AZF) regions] performed all by using standard cytogenetic methods multiplex polymerase chain reaction method, respectively.Chromosomal found 142 (8.4%; 142/1696). detected 46 (2.7%; 46/1696). AZFc region 20 (43%).This is one...
Abstract Objectives Diagnostic process of mitochondrial disorders (MD) is challenging because the clinical variability and genetic heterogeneity these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD. Methods We included 59 72 patients that undergone WES targeted exome sequencing panel suspected to have potential PMDs. Patients who were in analysis considering possible PMD reviewed retrospectively scored according Mitochondrial Disease...
Background Chromosomal microarray analysis is the first‐tier test for evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results 971 patient 301 parent samples. Materials Methods Among samples, 133 (13.6%) had pathogenic variants. Results While analyzing, an “in‐house” variant database was also used besides other databases. Owing to this, have found chance report most frequent benign variants in Turkish population. Conclusion With additional...
Ozdemir, Taha R.a; Atik, Tahira; Karaca, Emina; Onay, Huseyina; Ozkinay, Ferdab; Cogulu, Ozgura Author Information
Abstract Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), 18, 13, sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” contrast to noninvasive conventional serum screening, it provides identification 98%–99% fetuses with Down syndrome. Methods Retrospective analysis targeted testing (NIPT) (Clarigo Test) pregnancies moderate risk, which...
Exhaled breath is a source of volatile and nonvolatile biomarkers in the body that can be accessed non-invasively used for monitoring. The collection lung secretions by conventional methods such as bronchoalveolar lavage, induced sputum collection, core biopsies limited invasive nature these methods. Non-invasive exhaled condensate (EBC) provides fluid samples are representative airway lining fluids. Various detected condensates, H2O2, nitric oxide, lipid mediators, cytokines, chemokines,...
Abstract Background Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today. Case presentation We reported 5 CD patients from two families. Four were male and one patient was female. Two of them NICCD (neonatal intrahepatic cholestasis citrin deficiency); three CTLN2 (adult-onset type II citrullinemia). Both showed typical biochemical changes...
Background. Immunosuppression at the feto-maternal interface is crucial for a successful pregnancy outcome. Human leukocyte antigen-G (HLA-G) seems to be major contributor fetal tolerance. The HLA-G expression seen in cytotrophoblasts and maternal blood. Fetal acts on decidual antigen-presenting cells (APCs), natural killers (NKs) T cells. Recent findings revealed that defects placentation their consequences are associated with variants levels.Objectives. objective of this article...
Abstract Periodic fever syndromes ( PFS s) are a family of clinical disorders, which characterized by recurrent episodes in the absence microbial, autoimmune or malign conditions. Most common types s associated with four genes: MEFV , MVK TNFRSF 1A and NLRP 3 . This paper aims to add new data genotype–phenotype association -, -1A- ‐associated s. A total number 211 patients were evaluated. Two different approaches used for molecular genetic evaluation For first 147 patients, Sanger sequence...