Publications by authors named "J Vollenweider"

Background: The epigenome, the set of modifications to DNA and associated molecules that control gene expression, cellular identity, and function, plays a major role in mediating cellular responses to outside factors. Thus, evaluation of the epigenetic state can provide insights into cellular adaptions occurring over the course of disease.

Methods: We performed epigenome-wide association studies of primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC) using the Illumina MethylationEPIC Bead Chip.

View Article and Find Full Text PDF
Article Synopsis
  • DNA methylation is a key epigenetic change in humans, used as a biomarker in diagnosing various diseases, but current methods overlook age and sex-specific patterns.
  • The study analyzed DNA methylation from blood samples of healthy individuals and patients with specific syndromes, introducing a Generalized Additive Model to assess 700,000 CpG sites while accounting for age and sex differences.
  • The research achieved a high prediction accuracy of 0.96 in identifying abnormal methylation patterns, demonstrating the effectiveness of their custom machine learning pipeline for diagnosing potential congenital disorders.
View Article and Find Full Text PDF

Stable isotope analysis is a powerful tool for dietary modeling and trophic ecology research. A crucial piece of information for isotopic dietary modeling is the accurate estimation of trophic discrimination factors (TDFs), or the isotopic offset between a consumer's tissue and its diet. In order to parameterize stable isotope dietary models for future climate scenarios, we investigated the effect of water temperature and dietary protein and lipid content on TDFs in juvenile Pacific cod (Gadus macrocephalus).

View Article and Find Full Text PDF

Peripheral T-cell lymphoma (PTCL) is a clinically heterogeneous group that represents 10%-15% of all lymphomas. Despite improved genetic and molecular understanding, treatment outcomes for PTCL have not shown significant improvement. Although Janus kinase-2 (JAK2) plays an important role in myeloproliferative neoplasms, the critical role of JAK isoforms in mediating prosurvival signaling in PTCL cells is not well defined.

View Article and Find Full Text PDF