Publications by authors named "K Kydonopoulou"
Article Synopsis
- - Amyotrophic lateral sclerosis (ALS) is a fast-progressing disease that affects motor neurons, typically leading to paralysis and death within 3-5 years after symptoms appear.
- - The study investigates genetic variants in key genes linked to sporadic ALS (sALS) in Greece, including a detailed sequencing analysis of 32 patients and 3 healthy individuals.
- - Researchers identified multiple variants, including known ones associated with ALS and two new pathogenic variants, enhancing our understanding of the genetic factors involved in the disease's molecular pathology.
Article Synopsis
- β-Type hemoglobinopathies display a wide range of symptoms and treatment responses, influenced by the levels of fetal hemoglobin (HbF) in adults.
- The study investigates how specific genetic variants in transcription factors (KLFs) relate to the effectiveness of hydroxyurea (HU) treatment and the severity of the disease in patients with β-thalassemia and sickle cell disease.
- Results indicate that certain genetic variants can serve as potential biomarkers for disease severity and treatment response, highlighting their importance in personalized treatment strategies for these conditions.
Association of GPIa C807T polymorphism with unexplained female infertility and IVF implantation failure.
J Biol Regul Homeost Agents
August 2019
Glycoprotein Ia (GPIa), also known as integrin alpha 2 (ITGA2), together with GPIIa (ITGB1), form the heterodimer integrin α2β1. This complex is a major collagen receptor on the membrane of platelets, which is involved in thrombus formation through platelet adhesion and activation.
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- The study focuses on amyotrophic lateral sclerosis (ALS) and investigates the genetic basis of sporadic ALS (sALS) in Greek patients using next-generation sequencing.
- The findings show a positive link between specific gene variants in the FTO and TBC1D1 genes and sALS, along with indications of a unique disease-associated haplotype in the FTO gene among Greek patients.
- This research is noteworthy as it suggests a possible genetic association for sALS and proposes that the methods used could help identify variants in other complex genetic disorders.
Background: Infertility is a major issue of concern for couples at reproductive age. The underlying causes of infertility remain unknown in 15-30 % of the cases. Plasminogen activator inhibitor type 1 (PAI-1), which is a major fibrinolytic factor, has been associated with increased infertility risk.
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