A5046235182- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Parkinson's Disease Mechanisms and Treatments
- Liver Disease Diagnosis and Treatment
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Autism Spectrum Disorder Research
- Epigenetics and DNA Methylation
- Lipid metabolism and disorders
- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Neurological Complications and Syndromes
- Neurological disorders and treatments
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- Angiogenesis and VEGF in Cancer
- Biochemical and biochemical processes
- Cancer Risks and Factors
- IL-33, ST2, and ILC Pathways
- Iron Metabolism and Disorders
- Migraine and Headache Studies
- Alzheimer's disease research and treatments
- Adolescent and Pediatric Healthcare
- Metabolism and Genetic Disorders
Kocaeli Üniversitesi
2011-2021
University of Leeds
1981
The methylenetetrahydrofolate reductase (MTHFR) gene is a polymorphic involved in folate metabolism, DNA biosynthesis, methylation and genomic integrity actively dividing cells. MTHFR C677T A1298C polymorphisms are likely to play an important role the susceptibility breast cancer. In this case-control study, we examined of cancer patients. We genotyped 118 premenopausal women with sporadic 193 controls, using PCR-RFLP method. allele frequencies 677T were 31.36% cases 28.76% controls. 1298C...
The polymorphic methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms C677T and A1298C cause mild hyperhomocysteinemia, not only in homozygotes for C677T, but also compound heterozygotes C677T/A1298C. aim of this study was to determine allelic frequencies the MTHFR A1298C. In regard, we have investigated 1684 randomized individuals around Turkey. DNA samples isolated from peripheral blood were analysed. population consisted 1004 females 680 males. frequency Turkey 42.9 %; C677C,...
Heterochromatic variants of pericentromere chromosome 9 are reported and discussed since decades concerning their detailed structure clinical meaning. However, studies scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 heteromorphism carriers.In this study, 334 carriers heterochromatic were included, being 192 patients from Western Europe remainder Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed...
Nibrin, encoded by the NBN gene, participates in DNA repair. Mutations gene lead to Nijemen breakage syndrome, which may result several types of diseases, particularly susceptibility cancer, including breast cancer. Polymorphic variants and defective mutations occurring increase risk cancer through double-stranded break repair mechanism. The aim present study was investigate a possible association between genetic variants, 924 T>C, 8360 G>C 30537 G>C, women with Locus-specific primers were...
Nonalcoholic fatty liver disease (NAFLD) is the most common cause of abnormal hepatic steatosis in absence a history alcohol use. steatohepatitis (NASH) progressive form NAFLD. Hyperhomocysteinemia causes steatosis, and methylenetetrahydrofolate reductase (MTHFR) C677T A1298C polymorphisms result hyperhomocysteinemia. To examine whether MTHFR gene were associated with NASH, we analysed allele genotype distribution 57 well-diagnosed NASH patients, 324 healthy controls case-control study...
Nonalcoholic fatty liver disease (NAFLD) is the most common cause of abnormal hepatic steatosis in absence a history alcohol use and with prevalence 15%-45% developed nations. steatohepatitis (NASH) an advanced stage NAFLD pronounced major inflammatory component. The aim this study was to investigate possible role nicotinamide-N-methyltransferase (NNMT) gene rs694539 variant development NASH. Therefore, we analyzed 80 NASH patients 183 healthy controls using polymerase chain...
Essential tremor (ET) is a most common human movement disorder of unknown etiology. Previous reports have shown that the C677T polymorphism methylenetetrahydrofolate reductase gene has been associated with neurodegenerative disorders. To investigate role polymorphisms in essential tremor, we analyzed alleles and genotypes (MTHFR) MTHFR A1298C total 158 unrelated patients compared them those 246 healthy control subjects, using polymerase chain reaction restriction fragment length method. The...
Attention-deficit/hyperactivity disorder (ADHD) is a common, multifactorial genetic disorder. The aim of the present study was to evaluate possible association between 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ADHD. There evidence suggest that MTHFR C677T A1298C alter function enzyme, causing reduced folate increased homocysteine levels in plasma. Two gene, (rs1801133) (rs1801131), were analyzed sample 100 Diagnostic Statistical Manual Mental...
Migraine is a common neurovascular disorder affecting 10 to 20 % of the world population usually subdivided into migraine with auro (MA) and without (MO). Homocysteine involved in pathophysiology number neurological disorders. Elevated levels homocysteine plasma produced by MTHFR gene rs 1801133 1801131 variants as well NNMT 694539 variant.With polymerase chain reaction-restriction fragment length polymorphism method developed recently our laboratory, we were able show an association between...