Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy421
Abstract: Abstract Elevated serotonin (5‐HT) blood levels, the first biomarker identified in autism research, has been consistently found in 20‐30% of patients with Autism Spectrum Disorder (ASD). Hyperserotonemia is mainly due to greater 5‐HT uptake into… read more here.
Keywords: itgb3 gene; blood levels; platelet; promoter ... See more keywords
Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.1062900
Abstract: Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa… read more here.
Keywords: homozygous silent; itgb3; glanzmann thrombasthenia; itgb3 gene ... See more keywords