Publications by authors named "N Bouatia-Naji"
Background: Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed until chordal rupture. The present study aims to characterize familial PostMVP phenotype and familial recurrence, its genetic background, and the pathophysiological processes involved.
View Article and Find Full Text PDFBackground: Genome-wide association studies implicate common genetic variations in the (low-density lipoprotein receptor-related protein 1 gene) locus at risk for multiple vascular diseases and traits. However, the underlying biological mechanisms are unknown.
Methods: Fine mapping analyses included Bayesian colocalization to identify the most likely causal variant.
Article Synopsis
- Fibromuscular dysplasia (FMD) is a rare condition mostly affecting women, characterized by various arterial problems that can lead to serious health issues like hypertension and stroke.* -
- This study used genetic data from FMD patients and healthy controls to identify 18 gene regulatory networks, with four forming an FMD-related supernetwork affecting arterial health.* -
- By disrupting this supernetwork in mice, researchers observed symptoms of FMD, revealing insights into the disease's mechanisms and potential new treatment options.*
Article Synopsis
- - Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder, but its genetic causes are still unknown.
- - Researchers conducted whole exome sequencing on families and sporadic patients with hEDS, discovering a specific missense variant in the KLK15 gene linked to the disease.
- - By creating knock-in mice with this variant, they validated that it caused connective tissue defects, supporting the role of KLK15 gene variants in hEDS and promoting early diagnosis and improved clinical treatments.
Valvular heart disease is a common cause of morbidity and mortality worldwide and has no effective medical therapy. Severe disease is managed with valve replacement procedures, which entail high health care-related costs and postprocedural morbidity and mortality. Robust ongoing research programs have elucidated many important molecular pathways contributing to primary valvular heart disease.
View Article and Find Full Text PDF