A5026096890- Adipose Tissue and Metabolism
- Cancer, Lipids, and Metabolism
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- MicroRNA in disease regulation
- Connective tissue disorders research
- Peroxisome Proliferator-Activated Receptors
- Epigenetics and DNA Methylation
- Muscle Physiology and Disorders
- Kruppel-like factors research
- Genetic Syndromes and Imprinting
- Cardiovascular Disease and Adiposity
- Global Cancer Incidence and Screening
- Diet and metabolism studies
- Biomarkers in Disease Mechanisms
- Menopause: Health Impacts and Treatments
- interferon and immune responses
- Sarcoma Diagnosis and Treatment
- Electrospun Nanofibers in Biomedical Applications
- Bone and Dental Protein Studies
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- Sphingolipid Metabolism and Signaling
- Soft tissue tumor case studies
- Endometrial and Cervical Cancer Treatments
State Hospital
2024
Istanbul University
2013-2023
Istanbul University-Cerrahpaşa
2021-2022
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders characterised by susceptibility to fractures, primarily due defects in type 1 collagen. The aim this study present novel OI phenotype and its causative candidate gene.Whole-exome sequencing clinical evaluation were performed five patients from two unrelated families. PHLDB1 mRNA expression blood fibroblasts was investigated real-time PCR, western blot analysis further on skin fibroblasts.The common findings among...
Ceramide, the backbone of sphingolipids, is key component affecting atherosclerotic changes through its important second-messenger role. Previous studies have demonstrated protective role AMP-activated protein kinase (AMPK) genes in regulating atherosclerosis and hypertension. Ceramide synthase 5 (LASS5 or CERS5) gene has function de novo synthesis ceramide, indirect effect on AMPK gene. Aim present study was to identify LASS5 atherosclerosis.LASS5 gene-specific small interfering RNA...
Abstract Beckwith‐Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized by macroglossia, abdominal wall defects, lateralized overgrowth, and predisposition to embryonal tumors. It caused the defect of imprinted genes on chromosome 11p15.5, regulated control (IC) domains, IC1, IC2. Rarely, CDKN1C chromosomal changes can be detected. The aim this study retrospectively evaluate 55 patients with BWS using new diagnostic criteria developed consensus, investigate (epi)genetic...
To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).We retrospectively investigated clinical molecular data of 138 NF1 patients from 129 families who had been followed-up for median 3.9 (1.25-18.5) years.NF1 sequencing revealed 73 different intragenic variants, 19 which were novel. Seven large deletions detected by multiplex ligation-dependent probe amplification (MLPA) analyses. The total detection rate pathogenic...
Objectives: Estrogen receptor 1 (ESR1) polymorphisms are associated to Alzheimer's disease (AD), and in the first intronic region of gene known affect ESR1 mRNA transcription.The contains two that have received most attention: PvuII rs2234693 (NM 000125.3:c.453-397T>C) XbaI rs9340799 000125.3:c.453-351A>G).Both been shown be with AD, but consistent findings across populations not established.In this study, we sought determine if our cohort Turkish AD patients.We also examined whether...
Aim: Human papillomavirus is the most common known cause of cervical cancer. Screening programmes and vaccination against human are effective methods for prevention early diagnosis Female's awareness this issue important their participation in screening vaccination. The aim study was to investigate knowledge, attitudes behaviours female community about papillomavirus, vaccine Methods: This descriptive conducted on 130 who applied Family Medicine Outpatient Clinic Selcuk University Faculty...
ATP binding cassette transporter A1 (ABCA1) plays a pivotal role in the reverse cholesterol transport. Some mutations ABCA1 gene have correlation with changes serum high-density lipoprotein-cholesterol (HDL-C) and other lipids concentrations. The of genetic factors susceptibility to metabolic syndrome (MetS) is not clear. aim this study was explore relationship between MetS.Therefore, investigate probable new functional regions gene, 14th, 19th 49th exons were analyzed using single strand...
Objective: TIMP3 is one of tissue inhibitors metalloproteinases (TIMPs), which binds to the components extracellular matrix, and has crucial roles in atherosclerogenesis adipose differentiation. In this study, it was aimed determine effects gene expression levels on severity atherosclerosis different tissues. Material Methods: The first group study (evaluated for coronary artery disease) were cases classified as high low plaque scores according degree location atherosclerotic lesions....
Loss of methylation (LoM) the imprinting control region 1 (ICR1) in chromosome 11p15.5 domain is detected patients with Silver-Russell syndrome (SRS), characterized by asymmetric pre- and postnatal growth restriction, typical craniofacial features. The intrauterine restriction (IUGR) possess a high risk for adult metabolic problems. This study aimed to investigate levels problems children syndromic nonsyndromic IUGR. Methylation analysis was performed 49 (33 suspected SRS 16 IUGR)...
Objective: Hypertrophic cardiomyopathy (HCM) is one of sudden cardiac death (SCD) causes. This study aimed to identify high-risk pathogenic variants for SCD in the three sarcomeric genes with most frequent mutations HCM. Material and Method: The included 12 adult HCM index cases a family history and/or HCM, 31 their members. All participants were evaluated detailed examinations. exonic regions MYH7, MYBPC3 TNNT2 analysed using CorTAG HCM1 resequencing arrays. Results: Six causing amino acid...