Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs.
Sign Up to like & getrecommendations! Published in 2021 at "Gene"
DOI: 10.1016/j.gene.2021.145428
Abstract: BACKGROUND Myocardial infarction (MI) and underlining atherosclerosis are the main causes of death worldwide. Phosphatase and actin regulator 1 (PHACTR1) variants have been associated with early onset MI, coronary artery disease and carotid dissection. PHACTR1… read more here.
Keywords: effect phactr1; phactr1; phactr1 mrna; expression ... See more keywords
PHACTR1 modulates vascular compliance but not endothelial function: a translational study
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DOI: 10.1093/cvr/cvac092
Abstract: Abstract Aims The non-coding locus at 6p24 located in Intron 3 of PHACTR1 has consistently been implicated as a risk allele in myocardial infarction and multiple other vascular diseases. Recent murine studies have identified a… read more here.
Keywords: function; vivo; locus; role phactr1 ... See more keywords
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
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DOI: 10.1111/cge.13926
Abstract: A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole‐exome sequencing. A heterozygous amino‐acid substitution p.L519R in a PHACTR1 gene was identified.… read more here.
Keywords: infantile spasms; phactr1; epilepsy infantile; multifocal epilepsy ... See more keywords
Endothelial PHACTR1 Promotes Endothelial Activation and Atherosclerosis by Repressing PPARγ Activity Under Disturbed Flow in Mice.
Sign Up to like & getrecommendations! Published in 2023 at "Arteriosclerosis, thrombosis, and vascular biology"
DOI: 10.1161/atvbaha.122.318173
Abstract: BACKGROUND Numerous genome-wide association studies revealed that SNPs at the PHACTR1 (phosphatase and actin regulator 1) locus strongly correlate with coronary artery disease. However, the biological function of PHACTR1 remains poorly understood. Here, we identified… read more here.
Keywords: phactr1; disturbed flow; atherosclerosis; mice ... See more keywords