Publications by authors named "T G Pottinger"
Article Synopsis
- Accelerated decline in lung function is linked to chronic respiratory diseases, and while genetics play a role, few genetic connections have been found.
- This study aimed to investigate genetic variants associated with lung function decline using genome-wide association studies (GWAS) across diverse populations in multiple cohorts.
- They identified 361 significant genetic variants potentially related to lung function declines, with some replicated in additional cohorts, indicating strong genetic influences on respiratory health.
Background: Osteogenesis imperfecta (OI) is a genetic defect in collagen type I, phenotypically characterized by bony fragility and a propensity to high rates of childhood fracture. Fragility fractures in patients with OI have been reported with routine hospital care. In addition, there is a nonzero rate of iatrogenic fracture during orthopaedic surgery directly related to the technical steps of the procedure itself.
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- ALS is a neurodegenerative disease affecting over 300,000 people globally, with a notable genetic component; about 15% of diagnosed individuals have a genetic variant related to the disease.
- The study used an extensive cohort (6,970 ALS patients, 166 PLS patients, and 22,524 controls) to conduct rare variant burden testing, aiming to identify new genetic targets for ALS and PLS treatments.
- Significant associations were found with known ALS-related genes (SOD1, TARDBP, TBK1), along with a novel gene (ALKBH3) that appears protective against ALS, highlighting progressive insights into the genetic landscape of the disease.
Chronic obstructive pulmonary disease (COPD) and emphysema are associated with endothelial damage and altered pulmonary microvascular perfusion. The molecular mechanisms underlying these changes are poorly understood in patients, in part because of the inaccessibility of the pulmonary vasculature. Peripheral blood mononuclear cells (PBMCs) interact with the pulmonary endothelium.
View Article and Find Full Text PDFBackground: Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing.
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