RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability [PDF]
Frontiers in Neurology, 2021 Moyamoya disease is an idiopathic chronically progressive cerebrovascular disease, which causes both ischemic and hemorrhagic stroke. Genetic studies identified RNF213/Mysterin and GUCY1A3 as disease-causing genes.
Yohei Mineharu, Susumu Miyamoto
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Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy [PDF]
Human Genomics, 2023 Background Moyamoya angiopathy (MMA) is a rare cerebrovascular condition leading to stroke. Mutations in 15 genes have been identified in Mendelian forms of MMA, but they explain only a very small proportion of cases.
Stéphanie Guey +14 more
doaj +7 more sources
Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy [PDF]
Frontiers in GeneticsImpaired nitric oxide (NO) formation may be associated with endothelial dysfunction and increased cardiovascular disease risk in preeclampsia (PE).
Daniela A. Pereira +6 more
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Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study [PDF]
Lipids in Health and Disease, 2019 Background Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be involved
Jian-li Li +6 more
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Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention [PDF]
Cardiovascular Research, 2019 Aim: A common genetic variant at the GUCY1A3 coronary artery disease locus has been shown to influence platelet aggregation. The risk of ischaemic events including stent thrombosis varies with the efficacy of aspirin to inhibit platelet reactivity. This
Thorsten Kessler +30 more
core +11 more sources
Патология кровообращения и кардиохирургияАктуальность. Выявление предикторов резистентности к антитромбоцитарным препаратам, включая поиск новых генетических полиморфизмов, отвечающих за развитие патологического процесса, позволит снизить риск осложнений после кардиохирургических вмешательств ...
И.Ю. Логинова +6 more
doaj +5 more sources
Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. [PDF]
Eur Heart J, 2019 Abstract Aims Efficacy of aspirin in primary prevention of cardiovascular disease (CVD) may be influenced by a common allele in guanylate cyclase GUCY1A3, which has been shown to modify platelet function and increase CVD risk. Methods and results
Hall KT +8 more
europepmc +5 more sources
Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus [PDF]
Circulation, 2017 Background: A chromosomal locus at 4q32.1 has been genome-wide significantly associated with coronary artery disease risk. The locus encompasses GUCY1A3 , which encodes the α 1 subunit of the soluble guanylyl cyclase (sGC), a key enzyme in the nitric oxide ...
Thorsten Kessler +17 more
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Loss of Gucy1a3 Causes Poor Post-Stroke Recovery by Reducing Angiogenesis Via the HIF-1α/VEGFA Signaling Pathway in Mice [PDF]
Journal of Stroke and Cerebrovascular Diseases, 2022 Abstract Ischemic stroke is a common and debilitating disease that can cause permanent neurological damage. Gucy1a3, which encodes the α1 subunit of soluble guanylyl cyclase, has been reported to be associated with functional recovery after ischemic stroke. However, the mechanism is still not well understood.
Man Luo +10 more
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Disrupted nitric oxide signaling due to
Clinical Genetics, 2016 Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory moyamoya collateral vessels. Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia.
Stephanie E Wallace +15 more
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