Publications by authors named "D Milan"
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.
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- Dairy cattle breeds face recurrent recessive genetic defects that are often undetected due to conventional observation techniques missing various conditions, particularly those without clear symptoms.
- A new data mining framework has been developed to identify these hidden recessive defects in livestock by analyzing genomic data and comparing homozygote numbers in cattle with diverse life histories.
- This research uncovered 33 new genetic loci linked to increased juvenile mortality, offering insights into the genetic causes of inbreeding depression, which can enhance animal welfare and reduce industry losses.
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 PDFBackground: Clonal hematopoiesis of indeterminate potential (CHIP), a common age-associated phenomenon, associates with increased risk of both hematological malignancy and cardiovascular disease. Although CHIP is known to increase the risk of myocardial infarction and heart failure, the influence of CHIP in cardiac arrhythmias, such as atrial fibrillation (AF), is less explored.
Methods: CHIP prevalence was determined in the UK Biobank, and incident AF analysis was stratified by CHIP status and clone size using Cox proportional hazard models.