Publications by authors named "M Nyegaard"
Background: The role of lipoprotein(a) (Lp(a)) in the risk-assessment of patients with de-novo stable chest pain is sparsely investigated. We assessed the association between Lp(a) concentration and the presence of coronary stenosis on coronary computed tomography (CT) angiography in a broad population of patients referred with stable chest pain.
Methods: Lp(a) measurements and coronary CT angiography were performed in 4,346 patients with stable chest pain and no previous history of coronary artery disease.
Background: Familial hemiplegic migraine (FHM) types 1-3 are associated with protein-altering genetic variants in , and , respectively. These genes have also been linked to epilepsy. Previous studies primarily focused on phenotypes, examining genetic variants in individuals with characteristic FHM symptoms.
View Article and Find Full Text PDFCalmodulinopathies are caused by mutations in calmodulin (CaM), and result in debilitating cardiac arrythmias such as long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). In addition, many patients exhibit neurological comorbidities, including developmental delay and autism spectrum disorder. Until now, most work into these mutations has focused on cardiac effects, identifying impairment of Ca /CaM-dependent inactivation (CDI) of Ca 1.
View Article and Find Full Text PDFArticle Synopsis
- * Researchers identified 21 human ITPR1 GOF variants and created a mouse model with one of these variants (ITPR1-W1457G), which was found to be prone to stress-induced ventricular arrhythmias.
- * Both mouse models and human data suggest that ITPR1 GOF variants increase Ca handling abnormalities and arrhythmia risk, with 7 rare ITPR1 variants in a human database showing similar GOF behavior linked to cardiac
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
J Am Acad Dermatol
December 2024
Background: The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood.
Objective: To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis.
Methods: A genome-wide association meta-analysis of 4814 HS cases (Denmark: 1977; Iceland: 1266; Finland: 800; UK: 569; and US: 202) and 1.