A5002523532- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Anesthesia and Sedative Agents
- Genomic variations and chromosomal abnormalities
- Anesthesia and Neurotoxicity Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Protein Tyrosine Phosphatases
- Inflammasome and immune disorders
- Cancer therapeutics and mechanisms
- Genetic Associations and Epidemiology
- Lysosomal Storage Disorders Research
- Schizophrenia research and treatment
- Congenital heart defects research
- Attention Deficit Hyperactivity Disorder
- Cholesterol and Lipid Metabolism
- Neurogenetic and Muscular Disorders Research
- Pharmacogenetics and Drug Metabolism
- Galectins and Cancer Biology
- interferon and immune responses
- Carcinogens and Genotoxicity Assessment
- Cancer Treatment and Pharmacology
- Hemoglobinopathies and Related Disorders
- Peptidase Inhibition and Analysis
- Skin and Cellular Biology Research
Pamukkale University
2021-2025
Gazi University
2010-2017
. This study aims to characterize the clinical phenotype of a family with two siblings exhibiting neurological manifestations, utilizing whole exome sequencing (WES) identify potential pathogenic variants within
Vincristine is a widely used chemotherapeutic agent in the treatment of childhood malignancies. Neuropathy most common adverse effect. CYP3A4 and CYP3A5 enzymes cytochrome p450 enzyme system are responsible vincristine metabolism. Genetic polymorphism may alter metabolism neurotoxicity rate. In this study, distribution alleles among Turkish children with malignancies, relation between genotype rates, as well severity duration neuropathy total doses were investigated. Patient group consisted...
Objective Both computed tomography (CTA) and conventional angiography (CCA) can provide direct visualization of the coronary arteries. The aim present study was to compare radiation exposure between CTA CCA search whether this amount causes signifi cant DNA damage.Method Seventy-two patients who underwent or were enrolled prospectively. We recorded dosage that used during procedures calculated eff ective dose (ED). determined sister chromatid exchange (SCE) level from blood samples which...
Abstract Objective. The association of DRD2 rs1800497 (TaqIA) polymorphisms and schizophrenia has been studied in a number populations, but the results are contradictory. We aimed to define Taq IA allelic differences between schizophrenic healthy subjects. Methods. group consisted 99 inpatients, diagnosed treated at Gazi University Hospital Psychiatry Service, was composed 109 subjects who did not suffer from any psychiatric or organic diseases. High molecular weight genomic DNAs were...
To evaluate dose-related genotoxicity of desflurane. In the literature, there are studies with equivocal data regarding potential inhalational anesthetics. However, it is important to know about genotoxic safety an anesthetic agent. Materials and methods: Two groups were enrolled into study. The first group was maintained a desflurane minimum alveolar concentration (MAC) 0.5 second 1 MAC Blood samples obtained studied at baseline after 3 h anesthesia via sister chromatid exchange (SCE)...
Van den Ende-Gupta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, narrow convex nasal bridge an everted lower lip, camptodactyly arachnodactyly. Intelligence normal. Recent studies have reported patients VDEGS pathogenic variants in the SCARF2 gene on chromosome 22q11.21. Here, we report two Turkish novel...
aDepartment of Medical Genetics, Faculty Medicine, Pamukkale University, Denizli, Turkey Received 15 August 2023 Accepted 26 December 2023. Correspondence to Kadri Karaer, Department Tel: +90 54 2674 5672; e-mail: [email protected]
Purpose: RASopathies encompass a spectrum of disorders resulting from pathogenic variants in genes associated with the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway, critical for cellular functions like proliferation, differentiation and survival. Noonan syndrome (NS), most prevalent form RASopathies, presents myriad clinical features including characteristic facial dysmorphisms, congenital heart defects, developmental delays. Despite its recognition, molecular confirmation remains...
We present two novel mutations of RPS6KA3 in Turkish boys with CLS. As reported previous publications, growth and developmental delay phenotypic appearance were typical our cases.
Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental characterized by moderate intellectual disability (ID), thin body habitus, seizures, muscle weakness, speech impairment. So far, only two families NEDMAS have been reported. We report the clinical molecular characteristics of three unrelated Turkish four patients. Whole-exome sequencing was used to search for disease-causing variant. The main manifestations probands are severe...
Amaç: İnfertilite çiftlerin %15’inde görülen bir problemdir. Oligozoospermi ve azoospermi kaynaklı erkek infertilitesi tanısı alanların %30’unun etiyolojisinde genetik nedenler sorumludur. Bu retrospektif çalışmada, merkezimize başvuran infertil erkeklerde yardımcı üreme teknikleri uygulanmadan önce hem kromozomal yapının belirlenmesi de Y kromozomu üzerindeki azoospermik faktör (AZF) bölgesinin mikrodelesyonunun amaçlanmıştır. Gereç Yöntem: Laboratuvarımıza rutin analizler için 675 hasta...
Purpose: Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease (MIM#249100). The most common symptoms are high fever, abdominal pain and arthralgia. FMF the result of variations in MEditerraneanFeVer (MEFV) gene, which located on chromosome 16p13.3, consists 10 exons encodes pyrin (marenostrin) protein. frequency MEFV gene variants that cause varies according to ethnic groups, countries even different regions same country. In this study, we aimed determine distribution...
IVSI-110 (G>A), IVSI-6 (T>C), IVSII-1 IVSII-745 (C>G), IVSI-1 and HbS are mutations covering 76% of all the β-globin in Turkish population. In this study, our aim is to develop a reliable, fast, real-time kit for these using TaqMan probe method.This study included 100 individuals with beta-thalassemia or sickle cell anemia who had unknown mutations, 21 controls known mutations.We designed containing by PCR method. One hundred patients were studied developed kit. Of patients, 73 (73%)...