A5051448503- Prenatal Screening and Diagnostics
- Retinal Development and Disorders
- Biotechnology and Related Fields
- Connective tissue disorders research
- Retinal Diseases and Treatments
- Sexual Differentiation and Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetics, Bioinformatics, and Biomedical Research
- Inflammasome and immune disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Lymphatic System and Diseases
- Congenital limb and hand anomalies
- Hormonal and reproductive studies
- Nutrition, Genetics, and Disease
- SARS-CoV-2 and COVID-19 Research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Congenital Heart Disease Studies
- Metabolism and Genetic Disorders
- Renal and related cancers
- Neurogenetic and Muscular Disorders Research
- Chromosomal and Genetic Variations
- Epigenetics and DNA Methylation
- Ovarian function and disorders
Erciyes University
2016-2025
Abdullah Gül University
2023-2024
National Institute of Biology
2023
University of Perugia
2023
Bursa Uludağ Üni̇versi̇tesi̇
2023
Near East University
2021
University of Chemical Technology and Metallurgy
2021
Best Biotech
2021
Faculty (United Kingdom)
2007-2020
Kayseri Eğitim ve Araştırma Hastanesi
2009-2018
The sulfated polysaccharide dermatan sulfate (DS) forms proteoglycans with a number of distinct core proteins. Iduronic acid-containing domains in DS have key role mediating the functions proteoglycans. Two tissue-specific epimerases, encoded by DSE and DSEL, GalNAc-4-O-sulfotransferase CHST14 are necessary for formation these domains. mutations were previously identified patients musculocontractural type Ehlers–Danlos syndrome (MCEDS). We now homozygous missense mutation (c.803C>T, p.S268L)...
AIM:To identify novel non-invasive biomarkers for non-alcoholic fatty liver disease (NAFLD). METHODS:Twenty patients with histologically proven NAFLD and 20 controls were included.All cases scored using the activity score.The relative expressions of miR-197, miR-146b, miR-10b, miR-181d, miR-34a, miR-122, miR-99a miR-29a analyzed real-time polymerase chain reaction. RESULTS:Serum levels miR-99a, miR-197 miR-146b significantly lower in biopsy-proven than healthy controls.Serum miR-10b...
The aim of the present study was not only to review clinical and demographic features child-onset familial Mediterranean fever (FMF) patients but also investigate whether there is a phenotype-genotype correlation in same patient population.The medical records 102 with FMF were retrospectively reviewed. Patients classified into three groups according mutations: group 1, Met694Val-Met694Val (homozygote); 2, Met694Val-other; 3, other-other. These compared regard gender, age onset, diagnosis,...
Traumatic brain injury (TBI) is a devastating public health problem which may result in hypopituitarism. However, the mechanisms and risk factors responsible for hypothalamo-pituitary dysfunction due to TBI are still unclear. Although APO E one of most abundant protein region, there no study investigating relation between polymorphism TBI-induced This was undertaken determine whether genotypes modulate pituitary after various causes, including traffic accident, boxing, kickboxing....
This article aims at answering the following questions: (1) What is influence of age structure on spread coronavirus disease 2019 (COVID-19)? (2) can be impact stringency policy (policy responses to pandemic) COVID-19? (3) might quantitative effect development levelincome and number hospital beds deaths due COVID-19 epidemic? By employing methodologies generalized linear model, moments method, quantile regression models, this reveals that shares median age, 65, 70 older population have...
Biotechnology is an innovative, interdisciplinary field that impacts many different sectors, including agriculture, veterinary, medicine, pharmaceutical and fine chemicals production. It emerging as one of the leading technologies for transition towards carbon-free society solving critical societal challenges comprising health protection, food energy supply, environmental protection. Professional networks such EBTNA (European Thematic Network Association) are important to disseminate...
Many studies have reported that psychiatric disorders may be associated with oxytocin receptor (OXTR) gene polymorphisms. The aim of this study was to investigate whether there is a relationship between OXTR polymorphisms and bipolar disorder (BPD). included 100 patients diagnosed BPD type 1 (BPD I) 96 healthy controls. Single nucleotide (SNPs) the gene, including rs53576, rs2254298 rs2268494, were examined via polymerase chain reaction in blood samples taken from participants. Based on...
Objective: To investigate the expression levels of genes (SLC6A3, SLC6A4, SLC1A2, SLC18A2, MAOA, COMT, GLYAT, GRM5, DRD4, TPH1, and ADRA2C) associated with attention deficit hyperactivity disorder (ADHD) by pre post-treatment methylphenidate to see if they may serve as biomarkers in etiopathogenesis diseases. Materials Methods : Thirty-five ADHD-diagnosed children 38 healthy controls were included divided three groups control, pre-treatment group. After isolation mRNA from peripheral blood...
Abstract Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance the body is demonstrated by emergence of various developmental disorders resulting from defects cilia structure function caused different inherited mutations more than 150 genes. Genomic analysis has rapidly improved our understanding ciliopathies’ intracellular molecular biological basis over past two decades, new technological advances have...
ABSTRACT Autosomal recessive primary microcephaly (MCPH) is a rare, genetically heterogeneous disorder characterized by congenital microcephaly, non‐progressive intellectual disability, and absence of neurological abnormalities. Pathogenic variants in CDK5RAP2 , linked to MCPH3, represent one the least common causes MCPH. reduced head size at birth, variable no Among This study aimed identify characterize novel genetic clinical findings patients with gene variants, contributing understanding...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current pandemics. This virus attacks cells by binding to transmembrane angiotensin I converting enzyme 2. In this study, we experimented a food supplement containing alpha-cyclodextrin and hydroxytyrosol improvement of defenses against SARS-CoV-2. Hydroxytyrosol has anti-viral properties able reduce serum lipids in mice. α-cyclodextrin ability deplete sphingolipids phospholipids from cellular membranes. The...
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism branched-chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode subunits α-ketoacid dehydrogenase complex, which responsible for these Biallelic pathogenic variants in or DBT are characteristic MSUD. In addition, a patient with PPM1K defect was previously reported. dephosphorylates activates enzyme complex. We report MSUD mild findings elevated BCAA levels carrying novel homozygous...