A5068183134- Education Practices and Challenges
- Educational Leadership and Administration
- Educational Methods and Analysis
- Mitochondrial Function and Pathology
- Educational Assessment and Pedagogy
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Erythrocyte Function and Pathophysiology
- Peptidase Inhibition and Analysis
- Global Education and Multiculturalism
- Media Discourse and Social Analysis
- Genetic Neurodegenerative Diseases
- Prion Diseases and Protein Misfolding
- Fibroblast Growth Factor Research
- Vitamin D Research Studies
- Neurological diseases and metabolism
- RNA regulation and disease
- Trace Elements in Health
- Alzheimer's disease research and treatments
- Genetic Syndromes and Imprinting
- Ubiquitin and proteasome pathways
- Endometriosis Research and Treatment
- Nuclear Receptors and Signaling
- Uterine Myomas and Treatments
Koç University
2020-2024
Pathogenic variants in PRKN cause early‐onset Parkinson's disease (PD), while the role of alpha‐synuclein ‐PD remains uncertain. One study performed a blood‐based seed amplification assay (SAA) ‐PD, not detecting 17 patients. By applying methodologically different SAA focusing on neuron‐derived extracellular vesicles, we demonstrated 8 13 patients, challenging view as non‐synucleinopathy. Moreover, blinded replication vesicles‐dependent idiopathic PD patients and healthy controls. In...
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes identification potential biomarkers therapeutic targets. Here, we identify
Abstract Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive are more common than Western European populations. Objective To identify the prevalence structure Turkish population. Methods Our cohort consisted 1296 index cases 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed screen for...
The aim of this research was to determine the association between fok1 polymorphism and uterine leiomyomas.For genotyping vitamin D receptor, real-time polymerase chain reaction performed on blood samples leiomyoma (n=27) control (n=33) groups. For statistical analyses, SPSS v.23 software (SPSS Inc., Chicago, IL, USA) used.A statistically significant difference observed for frequency CC genotype groups, frequencies T allele in groups were significantly higher than group.The presence may be a...
Abstract Background ATX‐ FGF /SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting postural tremor, slowly progressive cerebellar ataxia, and psychiatric behavioral disturbances. Objectives This study describes first case of linked to a biallelic frameshift variant gene. Methods Whole‐exome sequencing (WES) was conducted using Illumina NovaSeq 6000 platform, identified confirmed Sanger sequencing. Results We report autosomal recessive ‐related...