A5054006090- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Genetics, Bioinformatics, and Biomedical Research
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- Cancer-related molecular mechanisms research
- Genomics and Rare Diseases
- Cystic Fibrosis Research Advances
- MicroRNA in disease regulation
- Gut microbiota and health
- Nutrition, Genetics, and Disease
- Immunodeficiency and Autoimmune Disorders
- SARS-CoV-2 and COVID-19 Research
- Circular RNAs in diseases
- Colorectal Cancer Treatments and Studies
- Spinal Hematomas and Complications
- Electromagnetic Fields and Biological Effects
- Hemoglobinopathies and Related Disorders
- Metabolism and Genetic Disorders
- Alkaline Phosphatase Research Studies
- Extracellular vesicles in disease
- RNA modifications and cancer
- Social Media in Health Education
- Gout, Hyperuricemia, Uric Acid
- Machine Learning in Bioinformatics
Cukurova University
2017-2024
Başkent University
2024
Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in cells. The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups genes. However, this is not sufficient confirm the suspicion certain PIDs. Our innovative approach outlines algorithm for PIDs utility immunophenotyping custom-designed multigene panel.We designed diagnostic based cytometry studies classify...
Heterogeneity in symptoms associated with COVID-19 infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the from 946 whole-exome sequencing data was conducted. Allele frequencies all were calculated filtered to remove allele lower than 0.003 prioritize functional coding variants. The majority detected intronic, only two three nonsynonymous analyzed cohort. main that...
Next Generation Sequencing (NGS) has uncovered hundreds of common and rare genetic variants involved in complex diseases including immune deficiencies both an autosomal recessive dominant pattern. These however, cannot be classified clinically, only marginally contribute to disease susceptibility. In this study, we evaluated the multi-gene panel results Common Variable Immunodeficiency (CVID) patients argue that located different genes play a more prominent role susceptibility and/or...
Inflammatory bowel diseases, familial adenomatous polyposis (FAP) and colorectal cancer (CRC) are associated with alterations of the intestinal microbiota. However, few data available on perpetuation FAP ulcerative colitis (UC) in relation to microbial dysbiosis. This study evaluated UC genetically confirmed patients’ gut balance concordance clinical outcome. Fecal materials (average mass 0.54 g) were collected from three five patients compare healthy individuals as control group. Genomic...
The emission of radiofrequency electromagnetic radiation (RF-EMR) from mobile phones has been implicated in causing inflammatory changes the testis. Nevertheless, direct association these with development testicular germ cell tumors (TGCT) remains unclear. Therefore, we purposed to investigate effect RF-EMR exposure on testis, cytokine gene expression levels, and incidence TGCT. Twenty male Wistar albino rats were randomly assigned either study or control groups. group was exposed at 900...
Tumor mutation burden (TMB) has become one of the most popular approaches in last decade as a molecular genetic testing strategy for cancer therapeutics that represents somatic variations per Mbase coding regions genome and which can be performed via comprehensive genomic profiling (CGP) by next generation sequencing (NGS). TMB is commonly used to stratify patients immunotherapy well actionable variant detection possible other therapeutics. In this context, within study, we share our results...
Background: Cystic fibrosis (CF) is the most common worldwide, life-shortening multisystem hereditary disease, with an autosomal recessive inheritance pattern caused by mutations in cystic transmembrane conductance regulator (CFTR) gene. The national newborn screening (NBS) program for CF has been initiated Turkey since 2015. If immunoreactive trypsinogen (IRT) elevated (higher than 70 μg/L second control) and confirmed sweat test or clinical findings, genetic testing performed. aims of this...
Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development both males females. Due to this, the importance necessity of screening identify affecting population is paramount. Undergoing screenings allows for more knowledgeable risk assessment patients their care providers. The aim this study was evaluate prevalence BRCA1/BRCA2 mutated genes Turkish among unselected patients. To molecular markers, we utilized gene panel...
Abstract Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination mutations non-small cell lung cancer (NSCLC). We aimed to report our results next generation sequencing (NGS) using liquid biopsy patients with NSCLC. Patients advanced stage NSCLC were enrolled and their genomic profiling recorded. Next targeted panel includes 19 hot-spot genes. The plasma was separated from peripheral blood sample ccfDNAs isolated for NGS. performed...
Background Next Generation Sequencing is one of the latest advances in molecular testing and clinical laboratory applications. techniques involving liquid biopsies are emerging as important tools cancer diagnostics prognostics. Thus, integration biopsy studies into applications has become a necessity. By virtue biopsies, determining potential treatment targets through metastasis primary tumor sites right context can result more comprehensive treatment. This also helps to overcome re-sampling...
Background: In colorectal cancer, the investigation of cancer pathogenesis and determination relevant gene pathways is particularly important to provide a basis for treatment-oriented studies. miRNAs which affect regulation in molecular have an active role carcinogenesis. literature, miRNA expression levels been associated with metastasis prognosis different cancers. Objective: our study, profiling involved oncogenic apoptotic patients locally advanced receiving neoadjuvant therapy was...
Background:This retrospective study aimed to evaluate the presentation, diagnosis, management, and outcomes of 27 patients diagnosed with osteogenesis imperfecta at a single center in Türkiye between January 2011 2020.
Summary Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity PK deficiency (PKD) high, and over 400 unique variants have been identified. Twenty‐nine patients who had diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen 23 (65.2%) low levels. PK:hexokinase ratio 100% sensitivity for diagnosis, superior to assay. Two novel intronic (c.695‐1G>A c.694+43C>T) described. should be suspected with chronic...
Purpose: Sickle cell anemia is a disease characterized by hemolytic anemia, hypercoagulopathy, and painful crises. Microparticles are 0.1-1 µm sized membrane particles derived during cellular activation or apoptotic phases of the cycle. In this study, we investigated role microparticles on clinical state prognosis crisis steady in children with sickle anemia. Materials Methods: Patients who were followed up Çukurova University Pediatric Hematology Department presented included study....
Objective: Breast cancer (BC) is the most common type in women and may be inherited, mostly an autosomal dominant pattern.The clinical diagnosis of BC relies on published diagnostic criteria, analysis two genes, BRCA1 BRCA2, which are strongly associated with BC, included these criteria.The aim this study was to compare index cases non-BC individuals terms genotype features investigate genotype/demographic information association. Materials Methods:Mutational analyses for BRCA1/BRCA2 genes...
Abstract The lack of awareness patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing hypophosphatasia with a novel variant the ALPL gene identified index case family.
Inflammatory bowel diseases, familial adenomatous polyposis (FAP) and colorectal cancer (CRC) are associated with alterations of the intestinal microbiota. However, few data available on perpetuation FAP ulcerative colitis (UC) in relation to microbial dysbiosis. This study evaluated UC genetically confirmed patients’ gut balance concordance clinical outcome. Fecal materials (average mass 0.54 g) were collected from three five patients compare healthy individuals as control group....
Small non-coding RNAs have been recognized as potential controllers of various biological functions, including gene expression, molecular growth, and physiological functions. The diverse ways considerably aid the prognosis diagnosis many diseases which microRNAs (miRNAs) manifest themselves. It is crucial to successfully isolate miRNAs from tissues bodily fluids since they a wide range uses clinical biomarkers for precise detection diseases, cancer risk assessment, investigation different...