A5015810918- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Glutathione Transferases and Polymorphisms
- Venous Thromboembolism Diagnosis and Management
- Genomics, phytochemicals, and oxidative stress
- Cancer Genomics and Diagnostics
- Spine and Intervertebral Disc Pathology
- Blood Coagulation and Thrombosis Mechanisms
- Occupational and environmental lung diseases
- Platelet Disorders and Treatments
- Psoriasis: Treatment and Pathogenesis
- Spondyloarthritis Studies and Treatments
- Genomics and Rare Diseases
- Osteoarthritis Treatment and Mechanisms
- Cystic Fibrosis Research Advances
- PI3K/AKT/mTOR signaling in cancer
- Inflammatory mediators and NSAID effects
- Neurological diseases and metabolism
- Organ and Tissue Transplantation Research
- Neurosurgical Procedures and Complications
- Medical Imaging and Pathology Studies
- Autoimmune Bullous Skin Diseases
- Laser Applications in Dentistry and Medicine
- Neurofibromatosis and Schwannoma Cases
Selçuk Üniversitesi Tıp Fakültesi Hastanesi
2024
Selçuk University
2011-2024
Medical Genetics Center
2000
The aim of this study was to investigate the association between polymorphisms vitamin D receptor (VDR) and aggrecan genes degenerative disc disease in young Turkish patients. Aggrecan VDR proteins are main components bone cartilage. In our study, were investigated a total 300 individuals regarding degeneration herniation. An found patients having gene TT, Tt, FF, Ff genotypes with protrusion type herniation, whereas tt ff associated extrusion/sequestration types disease. Also, an observed...
To evaluate whether there is a relationship between HLA-A, -B, -Cw, and -DRB1 alleles developing nasal polyposis (NP).Data from 66 patients with NP were compared data 100 healthy randomly selected controls. Asthma, ASA (acetylsalicylic acid) triad, polyp score, previous sinonasal surgery also recorded.Genotyping of the performed polymerase chain reaction (PCR) sequence-specific primer (SSP) method. Data analyzed by using Pearson chi(2) test.The HLA-B*07 -Cw*12 found to be significantly...
Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of hereditary thrombophilia factors Prothrombin (FII) Factor V Leiden (FVL) genotypes to severity disease development thrombosis. investigated FII FVL alleles a cohort 9508 patients (2606 male 6902 female) with thrombophilia. It was observed that 930 these had infected by SARS-CoV-2 causing COVID-19. The demographic characteristics their medical history were recorded....
ABSTRACT: Structural chromosomal abnormalities in gonadal tissue represent an important category of parentally transmittable unbalanced to the offspring. A child with multiple anomalies was sent for cytogenetic analysis, and his karyotype 46, XY, der(17)t(15; 17)(q21; q25). This abnormality transferred from grandfather father proband. In this family, 5 persons (1 female 4 male) are carriers abnormality. study, fluorescence situ hybridization (FISH) on sperm nuclei male studied determine...
Abstract Meiotic segregation patterns of carriers Robertsonian translocations (RT) are important for assessing the risk unbalanced forms. We investigated ratio sperm with t(21;21) to nullisomy chromosome 21; along sex chromosomes, and also interchromosomal effects on 10 by using three color fluorescence in situ hybridization (FISH) telomere specific (Tel 21q) centromere‐specific alpha satellite probes chromosomes X, Y, 10. The percentage cosegregation (49.50%) without (46.98%) was not...
Background/aim: Acrylamide is a cytotoxic, genotoxic and neurotoxic chemical for human.High level of acrylamide uptake causes effects, however the cellular damage mechanisms long-term low-dose are not fully known yet.The present study investigated cytotoxic effects on HEK293 cells.Materials methods: Genotoxic were examined by micronuclei formation assay its impact cell viability was measured MTT reduction assay.For studying genotoxicity determining source micronucleus, FISH (Fluorescent in...
We studied the frequency of aneuploidy in sperm nuclei six infertile men with abnormal semen profile and normal karyotype, using fluorescence situ hybridization (FISH) DNA probes for chromosomes 8, 10, X Y. The control group consisted four healthy fertile karyotype profiles. purpose this study was to determine whether there are differences between male donors for: (1) incidence sex chromosome aneuploidy, (2) number disomies 10 cosegregating FISH analysis showed no significant ratios groups....
Fluids of body cavities result in a series pathophysiological events associated with nonmalignant and malignant conditions that lead the to formation exudative effusions. Diagnosis effusions from patients is frequently troublesome for cytologist because differentiation biological behavior diferrent cells type effusion. In present study, chromosomal aneuploidy status effusion derived 32 including14 non-malignant 18 diseases [including malign mesothelioma (n=6), adeno carcinoma (n=10 ), small...
Advanced genome sequencing technologies have provided us with the opportunity to deeply understand mechanisms underlying conditions associated genome. There has been significant interest recently in understanding characteristics of de novo mutations, which are genetic changes that arise reproductive cells and not present parents, as well involved their occurrence. These mutations can be transmitted subsequent generations potential influence diversity susceptibility diseases, making this...
Aim: Recently, organ transplant is the most common treatment of deficiency. Although there has been some discussion about necessity HLA in recent times, kidney still keeps on being important. Our aim this study to search whether a relationship between antigens and blood type 362 patients who are registered waiting list from cadaver Selçuk University Transplant Unit. Method: In study, tissue groups from-cadaver have determined with Class I microlenfocitotoxicity technique (HLA-A/B/C), II...
Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary (POAG) with an early age onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) extracellular matrix multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated JOAG in small number patients. Herein, we report novel missense variant the Turkish family JOAG.
Background: Cancer is a life-threatening condition with an economic burden on societies. Phytotherapy rapidly taking place in cancer research to increase the success of treatment and quality life. Thymoquinone (TQ) main active phenolic compound obtained from essential oil Nigella sativa (black cumin) plant seed. For long time, black cumin has been used traditionally for remedy different diseases because its various biological effects. It shown that most these effects seeds are due TQ. TQ...