A5002195285- Biotin and Related Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Corneal Surgery and Treatments
- Sperm and Testicular Function
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- Mycobacterium research and diagnosis
- Pancreatic function and diabetes
- Inflammasome and immune disorders
- Circadian rhythm and melatonin
- Suicide and Self-Harm Studies
- Blood Coagulation and Thrombosis Mechanisms
- Metabolism, Diabetes, and Cancer
- Neuroendocrine regulation and behavior
- Fibroblast Growth Factor Research
- Analytical Methods in Pharmaceuticals
- Attention Deficit Hyperactivity Disorder
- RNA Interference and Gene Delivery
- Congenital Heart Disease Studies
- Neurotransmitter Receptor Influence on Behavior
- Ovarian function and disorders
- Diabetes and associated disorders
- Birth, Development, and Health
- Folate and B Vitamins Research
Gaziantep University
2014-2024
Abstract Background/Aim Maturity‐onset diabetes of the young (MODY) is often misdiagnosed as other types because it overlooked due to atypical clinical presentations. This study aims reveal and laboratory clues examine their compatibility with MODY genotypes. Methods Participants consisted 230 children presentations for type1(T1DM) type2 mellitus (T2DM). MODY‐causing mutations were screened in following genes: GCK‐HNF1A‐HNF4A‐HNF1B‐PDX1‐NEUROD1‐KLF11‐CEL‐PAX4‐INS‐BLK . Clinical features...
Abstract Objective Biotinidase deficiency (BTD) is characterized by a wide range of genetic variants. However, the correlation between these variants and biochemical phenotypes BTD not well-established due to diversity gene, variable nature biotinidase, difficulties in measuring enzyme activity. This study aims identify gene newborns screened for biotinidase Southeastern Anatolia examine phenotypes. Materials methods variant analysis (BT) activity measurements were performed on 711 newborns....
Abstract Background/Objective Although the physiology of minipuberty is well established, it not fully explained why occurs. It has been suggested that contributes to development reproductive organs, somatic growth, cognitive/behavioural and sex‐specific brain development. Given well‐known trade‐off between reproductive/endocrine immune systems in adults, immunological approach minipuberty, which characterized by transient activation hypothalamo‐pituitary gonadal (HPG) axis, seems be...
The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype MFS is highly heterogeneous, with certain symptoms appearing as children age, diagnostic process establishing a genotype-phenotype association in childhood can be challenging. lack sufficient studies also makes it difficult to interpret subject. This study aims evaluate relationship between used criteria FBN1 variations MFS. investigated relationships...
Juvenile delinquency, where young people engage in criminal behavior, is a serious concern for society due to high arrest rates among minors. Delinquent behavior its devastating effect on the well-being of society. The relationship between genetics and violent complex not fully understood. This study aims investigate correlation specific genetic traits, particularly CRHR1 FKBP5 genes, sociodemographic characteristics context their age, gender, socioeconomic status, crime history delinquent...
Background/Aim: Functional and bioinformatic studies provide strong evidence that long non-coding RNAs (lncRNAs) can alter the molecular mechanisms of cancer through their interactions with DNA, RNAs, proteins. This study aimed to evaluate role H19 LINC00675 lncRNAs in colorectal cancers (CRCs) terms clinicopathological features. Materials Methods: Tumor tumor-free surrounding tissue samples were obtained from 51 CRC cases. Total RNA isolation cDNA synthesis performed. qPCR was performed...
Breast cancer is the leading cause of death in women across globe. The aim this study to compare exosomal survivin levels breast patients and healthy population. It also investigate relationship between clinicopathological parameters levels. Patients who were diagnosed with histopathologically confirmed volunteers included study. Serum samples from stored at -80℃. Exosomes isolated these serum samples. integrity exosomes was disrupted. Survivin measured by Enzyme Linked Immuno Sorbent Assay....
Purpose: Pterygium, one of the most common ocular surface diseases, is characterized by inflammatory infiltrates, proliferation, angiogenesis, fibrosis, and extracellular matrix breakdown. The objective this study was to elucidate levels intercellular adhesion molecule (ICAM)-2, ICAM-3 gene protein expressions in pterygium. Methods: A total 59 patients with pterygium were included study. mRNA from pterygial conjunctival autograft tissues extracted, real-time polymerase chain reaction on...
Abstract Background/Aim Biotin is a vital micronutrient that plays role in metabolic homeostasis and the regulation of innate adaptive immune system functions. Biotinidase deficiency (BTD) leads to impairment biotin‐dependent This study focused on immunophenotypic analysis lymphocyte subsets newborns with BTD. Patients Methods A total 181 (95 female 86 male; 114 had BTD 67 were healthy) underwent biotinidase enzyme activity, molecular immunophenotyping analyses. classified into four...
Abstract Background/aim: Biotinidase deficiency (BTD) is characterized by broad genotypic variants and unsteady biotinidase activity. Increasing enzyme activity maturation throughout childhood. This study aims to reveal the course of activities in a long-term follow-up period concordance with their genotypes . Participants/Methods: A total 1,773 (BT) measurements were performed 711 newborns BTD gene over 4-year period. Biochemical phenotyping was classified into four groups based on highest...
Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of diseases should be maintained properly otherwise quality life and period can affected. In this study, we tried to reveal inherited beta-thalassemia surrounding areas Gaziantep. Material Methods: included 208 patients who applied with beta -thalassemia suspicion pediatric hematology...
Acute Myeloid Leukemia (AML) is a hematopoietic stem cell disorder.Many of the tumor development steps are processes regulated by Ca 2+ dependent signaling pathways found in growth.Calcium channels, which can be blocked pharmacological agents such as verapamil, important regulation intracellular homeostasis.The failure to stop cycle and achieve programmed death most factors AML or other types cancers considered real cause cancer.Our aim this study was investigate effect verapamil on...
Abstract The authors have requested that this preprint be removed from Research Square.
Pterygium is a benign fibrovascular proliferation that develops from the conjunctiva and invades cornea. The etiology of this disorder remains unclear. Current treatment pterygium surgical. postoperative recurrence rate reported be high. To best our knowledge, these results are first to demonstrate contribution proteins expressions small GTPase Rho in patients with pterygium. Our data showed leukocyte RhoA, RhoB, RhoD, RhoE protein were markedly elevated primary However, no significant...
Pterygium is one of the most common ocular surface diseases, and characterized by inflammatory infiltrates, proliferation, fibrosis, angiogenesis, extracellular matrix breakdown. We investigated association polymorphisms in RHO genes RHOA, RHOB, RHOC, RHOD, RND3 (RHOE). The results this study demonstrate for first time with pterygium. displayed that gene were significantly associated pterygium Turkish population.