Publications by authors named "F J Collins"
Background: Type 2 diabetes (T2D) results from a complex interplay between genetic predisposition and lifestyle factors. Both genetic susceptibility and unhealthy lifestyle are known to be associated with elevated T2D risk. However, their combined effects on T2D risk are not well studied.
View Article and Find Full Text PDFComplete 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 PDFThe role of genomic testing in rare disease clinical management is growing. However, geographical and socioeconomic factors contribute to inequitable uptake of testing. Geographical investigations of genomic testing across Australia have not been undertaken.
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.