Allele Frequency of ACE2 Intron Variants and Its Association with Blood Pressure.
Sign Up to like & getrecommendations! Published in 2020 at "DNA and cell biology"
DOI: 10.1089/dna.2020.5804
Abstract: Angiotensin-converting enzyme 2 (ACE2) is known as the counter-regulator of the renin-angiotensin system, it cleaves angiotensin II to render Ag 1-7, a potent vasodilator with multiple roles in cardiovascular protection. A few studies have pinpointed… read more here.
Keywords: blood pressure; ace2; ace2 intron; intron variants ... See more keywords
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier–Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype–Phenotype Correlations
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.892768
Abstract: CSNK2B has recently been identified as the causative gene for Poirier–Bienvenu neurodevelopmental syndrome (POBINDS). POBINDS is a rare neurodevelopmental disorder characterized by early-onset epilepsy, developmental delay, hypotonia, and dysmorphism. Limited by the scarcity of patients,… read more here.
Keywords: phenotype correlations; poirier bienvenu; genotype phenotype; intron variants ... See more keywords