A5062839237- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Bone health and osteoporosis research
- Bone health and treatments
- Chronic Myeloid Leukemia Treatments
- Genetics and Neurodevelopmental Disorders
- Acute Myeloid Leukemia Research
- Chronic Lymphocytic Leukemia Research
- Congenital Anomalies and Fetal Surgery
- Sexual Differentiation and Disorders
- Acute Lymphoblastic Leukemia research
- Growth Hormone and Insulin-like Growth Factors
- MicroRNA in disease regulation
- Metabolism, Diabetes, and Cancer
- Bone Metabolism and Diseases
- RNA modifications and cancer
- Congenital Ear and Nasal Anomalies
- Medicinal Plants and Bioactive Compounds
- Genetic Syndromes and Imprinting
- Extracellular vesicles in disease
- Fetal and Pediatric Neurological Disorders
- Cancer Risks and Factors
Sanko University
2015-2024
Akdeniz University
2005-2015
Pediatrics and Genetics
2014
Akdeniz University Hospital
2012
Huntington’s disease (HD) is a neurodegenerative disorder characterized by progressive loss of neurons, which leads to behavioral systems and mental decline. HD linked repeat expansions cytosine, adenine, guanine in the Huntingtin (HTT) gene that give rise mutation, leading formation HTT protein product. Oxidative stress also provokes initiation progression as it misfolding results inclusion clumps together alters neurotransmission. Despite advancement field pharmaceutical sciences, current...
The objectives of this study were a) to investigate the effect targeting PANoptosome with 3,4-methylenedioxy-β-nitrostyrene (MNS) on PANoptosis in Renal ischemia-reperfussion (RIR) model b) kidney protective MNS toward RIR injury.Thirty-two rats divided into four groups randomly. assigned as Control, Sham, DMSO (dimethyl sulfoxide) and groups. group intraperitoneally given 20 mg/kg 30 minutes before reperfusion. 2% solvent that dissolves group. Left nephrectomy was performed under anesthesia...
Lung cancer is the leading cause of cancer-related death, and NSCLC constitutes nearly 85%-90% all cases. The IRS proteins function as adaptors transmit signals from multiple receptors. Upon binding insulin to receptor (IR), IRS1 phosphorylated at several YXXM motifs creating docking sites for PI3Kp85, which activates AKT kinase. Therefore, we thought that gain mutantions could be related development lung cancer. In line with this, wanted determine whether gene was mutated in coding regions...
To evaluate the effects of hormone replacement therapy (HRT) on bone mineral density (BMD) in patients with or without COL1A1 Sp1 binding site polymorphism.Non-smoking otherwise healthy postmenopausal women (n=111), who had not received any kind HRT for at least 3 years (between 2002 and 2005) onset menopause, were included. All 0.625 mg conjugated estrogen/2.5 medroxyprogesterone 18 months. BMD by dual X-ray absorptiometry was measured lumbar spine femur neck initially after 18th months...
Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion the first trimester and vast majority these are chromosome abnormalities.Studies chromosomal constitutions abortions have revealed that at least 50% an abnormal karyotype.In this study we aimed to report single centre experience anomalies detected abortions. Material Method:We present rare numerical structural cytogenetic abnormalities materials histopathological findings rest material specimens our...
Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with most frequently reported clinical findings including mild moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report a cytogenetically detectable familial interstitial deletion no discernible phenotypic effects mother her two daughters. The karyotypes daughters were: 46,XX,del(4)(q35.1q35.2). Based results FISH analyses using whole...
beta-Thalassemia is an autosomal recessive disease characterized by defective beta-globin chain production. Osteoporosis important cause of morbidity in patients with beta-thalassemia major. The pathogenesis reduced bone mineral density (BMD) multifactorial. A range genetics factors have been implicated other populations osteoporosis. Polymorphism at the Sp1 binding site collagen type I A1 (COLIA1) gene thought to be factor development osteoporosis.Alleles S and s, detected presence a G or T...
Placental mesenchymal dysplasia is an increasingly recognizable abnormality.early cases have been confused with partial hydatidiform mole.Placental probably under-diagnosed because of being unfamiliar clinical entity and also mistaken for gestational trophoblastic disease due to the similar sonographic findings two entities.In this report, we describe clinical, gross, histopathological placental in cases.The 33-week-preterm baby a 26-year-old woman cardiovascular 342 gram placenta 19-week...
Objective:The aim of this study was presentation the ultrasonographic findings and perinatal autopsy cases with rare chromosomal abnormalities. Material Method:A total 10125 prenatal over 17 years including 8731 amniocentesis, 973 chorionic villus sampling, 421 fetal blood sampling were evaluated for cytogenetic diagnosis.Conventional studies, fluorescence in situ hybridization Array-CGH analysis techniques used genetic analysis.Results: A structural abnormality observed 95 cases.The most...
Abstract Pure and complete 12p trisomy are rare. Here, we report on a unique patient with syndrome due to centric fission of maternal chromosome 12. Conventional cytogenetic fluorescence in situ hybridization (FISH) techniques revealed the proposita's karyotype be 47,XX,+fis(12)(p10)mat whereas one was 47,XX,‐12,+fis(12)(p10),+fis(12) (q10). This is first 12 leading stable telocentrics, each fully functional centromere. Our observation shows that can new mechanism for generation partial...
Pallister-Killian syndrome (PKS) is a rare genetic disorder usually characterized by mosaic tetrasomy of isochromosome 12p detected in cultured fibroblast cells. We describe here patient with PKS and intrachromosomal triplication the short arm chromosome 12. Her karyotype was mos 46,XX,inv trp(12)(p11.2p13)[34]/ 46,XX[16]de novo conventional cytogenetics fluorescent situ hybridization (FISH) analysis. However, this chromosomal abnormality not from patient's blood lymphocytes. report third on...
Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which characterized by the presence of classical or variant Philadelphia translocations. During progression to blastic phase disease secondary chromosomal abnormalities may emerge. Such are nonrandom, more frequent ones being trisomy 8 and 19, supernumerary i(17q), extra chromosomes. Furthermore, minor percentage patients acquire different including translocations between other We report here patient with Ph+ CML...