BACKGROUND AND AIMS Up to 20% of Primary Biliary Cholangitis (PBC) patients are estimated to have features that overlap with Autoimmune Hepatitis (AIH). Patients with PBC-AIH overlap syndrome (PBC-AIH OS) have been reported to exhibit suboptimal responses to ursodeoxycholic acid therapy, and are more likely to progress to cirrhosis. Anti-double stranded DNA (anti-dsDNA) and anti-p53 have been p...

In his writings on the milieu intérieur, Claude Bernard first hypothesized on the presence of feedback mechanisms within the cell to maintain its steady-state physiology. Walter Bradford Cannon would subsequently build on this concept and coin the term homeostasis. To date, numerous counter-regulatory mechanisms have been characterized in the cell, illustrating the dynamic nature of the intrace...

Germ cells of many animals exhibit characteristic cytoplasmic structures— termed germ granules or nuage—which are ribonucleoprotein (RNP) amorphous aggregates without limiting membranes and are often closely associated with nuclei or mitochondria [1]. In several model animals, such as Drosophila, Caenorhabditis elegans, and Xenopus, studies on germ granules have mainly focused on their asymmetr...

argonaute (agO) proteins are the central component of small rNamediated gene silencing in eukaryotes. Functional agO complexes are loaded with single-stranded small rNas, which guide agO to a messenger rNa (mrNa) target through base pairing. although the structure of a full-length eukaryotic agO has yet to be described, insights into the mechanism of guide rNa binding and target recognition hav...

s of oral presentations (in order of the program) 5 Analysis of pre-mRNA splicing in cell lines derived from patients with retinitis pigmentosa and dominant mutations in pre-mRNA splicing factor genes PRPF31, PRPF8 and PRPF3 Goranka Tanackovic, Adriana Ransijn, Jacques S. Beckmann, Eliot L. Berson and Carlo Rivolta Department of Medical Genetics, University of Lausanne, Switzerland The Berman-G...