Publications by authors named "M S Erdos"
Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. In the present study, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34,774 conditionally distinct expression quantitative trait locus (eQTL) signals at 18,476 genes. Over half of eQTL genes exhibited at least two eQTL signals.
View Article and Find Full Text PDFArticle Synopsis
- Hutchison-Gilford progeria syndrome (HGPS) is a genetic disorder caused by a mutation in the LMNA gene, leading to rapid aging and serious health issues, including bone density loss and a shorter life span.
- In studies using Lmna progeria mice, researchers analyzed bone mineralization and found similarities in mineral content across various ages but noted a higher number of empty osteocyte lacunae, indicating bone deterioration.
- The findings highlighted significant reductions in bone volume and abnormal growth plates in Lmna mice, suggesting that bone dysplasia occurs due to problems in bone formation despite normal turnover rates.
Introduction: Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition characterized by premature aging, impacting multiple organ systems, including cardiovascular, musculoskeletal, and integumentary. Significant abnormalities in a transgenic mouse model (homozygous G608G mutation), specifically targeting the development of skull and facial bone indices through high-resolution CT scanning and cephalometric analysis.
Methods: Key measurements include bone thickness, skull volume, and cranial suture integrity.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder in children caused by a point mutation in the lamin A gene, resulting in a toxic form of lamin A called progerin. Accelerated atherosclerosis leading to heart attack and stroke are the major causes of death in these patients. Endothelial cell (EC) dysfunction contributes to the pathogenesis of HGPS related cardiovascular diseases (CVD).
View Article and Find Full Text PDFArticle Synopsis
- The hypothalamus plays a critical role in maintaining homeostasis and is central to energy, glucose regulation, and reproduction through its arcuate nucleus (ARC).
- Researchers developed a robotic cell culture platform to convert human pluripotent stem cells into specific neuronal types with ARC-like characteristics, showing potential for studying metabolic disorders.
- This new model demonstrates responsiveness to hormones and neuropeptides, indicating its usefulness for disease research and understanding the dynamic regulation of related pathways, such as those involved in obesity and type 2 diabetes.