144 research outputs found
The role of lipoprotein metabolism and inflammatory gene polymorphims on the coronary artery disease with type 2 diabetes mellitus
86th Congress of the European-Atherosclerosis-Society (EAS) -- MAY 05-08, 2018 -- Lisbon, PORTUGALEuropean Atherosclerosis So
The role of lipid, sex hormone and inflammation pathway genes polymorphims on coronary artery disease in turks
86th Congress of the European-Atherosclerosis-Society (EAS) -- MAY 05-08, 2018 -- Lisbon, PORTUGALEuropean Atherosclerosis Societ
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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism
Background: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia–parkinsonism.
Methods: A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing.
Results: In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in PLA2G6 segregates with the disease in this family
Discussion: This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN
Platelet glycoprotein Ia 807C/T (Phe224) and 873G/A (Thr246) dimorphisms in Turkey.
At sites of vascular injury, the platelet collagen receptor Glycoprotein Ia/IIa (GPIa/IIa) acts as an important mediator of platelet adhesion to fibrillar collagens. Two silent polymorphisms (807C/T and 873G/A) within the glycoprotein Ia gene have been implicated in increased risk of developing thrombosis and myocardial infarction in affected individuals. To provide basis for future studies, we examined the frequency of these GPIa polymorphisms for people in Turkey. We analyzed 118 unrelated individuals for their genotypes of the GPIa gene using a multiplexed allele specific-PCR based method. The allelic frequencies were found to be 34% for 807T/873A and 66% for 807C/873G; the genotypic frequencies were 13% for 807TT/873AA, 44% for 807CT/873GA, and 43% for 807CC/873GG. (C) 2002 Wiley-Liss, Inc
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