Functional evaluation of GUCY1A3 mutations associated with myocardial infarction risk [PDF]
Myocardial infarction (MI) is the main complication of coronary artery disease (CAD). Recently, a locus tagging the GUCY1A3 gene has been shown to be genome-wide significantly associated with CAD [1]. GUCY1A3 encodes for the α1-subunit of the soluble guanylyl cyclase (sGC) which consists of α1- and β1-subunits and catalyzes the production of cGMP upon ...
Jana Wobst +7 more
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α1-A680T Variant in GUCY1A3 as a Candidate Conferring Protection From Pulmonary Hypertension Among Kyrgyz Highlanders [PDF]
Background—Human variation in susceptibility to hypoxia-induced pulmonary hypertension is well recognized. High-altitude residents who do not develop pulmonary hypertension may host protective gene mutations.Methods and Results—Exome sequencing was conducted on 24 unrelated Kyrgyz highlanders living 2400 to 3800 m above sea level, 12 (10 men; mean age,
Martin R. Wilkins +17 more
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Meta-analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder provides support for a shared genetic basis [PDF]
Gilles de la Tourette Sydrome (TS) is a childhood onset neurodevelopmental disorder, characterized phenotypically by the presence of multiple motor and vocal tics.
Fotis Tsetsos +10 more
doaj +4 more sources
Multi-omics research on moyamoya disease: current perspectives and future directions [PDF]
Moyamoya disease (MMD) is a rare, progressive cerebrovascular disorder characterized by internal carotid artery stenosis and compensatory vascular network formation. While its pathogenesis remains unclear, multi-omics approaches provide crucial molecular
Qingbao Guo, Na Li
doaj +2 more sources
Enhanced fibrotic potential of COL1A1hiNR4A1low fibroblasts in ischemic heart revealed by transcriptional dynamics heterogeneity analysis at both bulk and single-cell levels [PDF]
BackgroundFibroblasts in the fibrotic heart exhibit a heterogeneous biological behavior. The specific subsets of fibroblasts that contribute to progressive cardiac fibrosis remain unrevealed.
Cheng Luo +12 more
doaj +2 more sources
Prevalence of Systemic Hypertension and the Effects of Cerebral Revascularization in Patients With Moyamoya Disease [PDF]
Background Hypertension is often codiagnosed in patients with moyamoya disease (MMD), a progressive intracranial steno‐occlusive vasculopathy; this has principally been attributed to renal artery stenosis (up to 10%).
Hubert Lee +3 more
doaj +2 more sources
Diets high in selenium and isoflavones decrease androgen-regulated gene expression in healthy rat dorsolateral prostate [PDF]
Background High dietary intake of selenium or soybean isoflavones reduces prostate cancer risk. These components each affect androgen-regulated gene expression.
Setchell Kenneth DR +5 more
doaj +4 more sources
Shahin Asadi +2 more
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Bifidobacterium pseudolongum-Derived Bile Acid from Dietary Carvacrol and Thymol Supplementation Attenuates Colitis via cGMP-PKG-mTORC1 Pathway. [PDF]
Carvacrol and thymol mitigate colitis by boosting Bifidobacterium pseudolongum abundance, promoting secondary bile acid synthesis, particularly hyodeoxycholic acid, and 12‐ketodeoxycholic acid. These bile acids inhibit colonic inflammation by downregulating transmembrane guanylate cyclase 1A, elevating intracellular Ca2+ and cGMP levels, and ...
Zhang K +14 more
europepmc +2 more sources
Advances in moyamoya disease: pathogenesis, diagnosis, and therapeutic interventions. [PDF]
The general morphology of moyamoya disease is described in the illustrated summary. The hyperplasia of the intima was found in the pathological tissue. In addition, the main research results of this review from genes, proteomics, metabolomics, immune involvement, and pathogenesis are summarized.
He S +11 more
europepmc +2 more sources

