Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …

Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …

The Bayesian approach to data analysis provides a powerful way to handle uncertainty in all
observations, model parameters, and model structure using probability theory. Probabilistic …

Abstract The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of
non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly …

Bardet–Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement
and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The …

Summary Background Bardet‐Biedl syndrome (BBS) is a rare genetic disorder that severely
inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric weight …

The primary cilium is a highly specialized and evolutionary conserved organelle in
eukaryotes that plays a significant role in cell signaling and trafficking. Over the past few …

Abstract Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-
ITHACA) have teamed up to establish a consensus statement and recommendations for …

Abstract Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the
dysfunction of primary cilia. The immune system of patients with ciliopathies has not been …

The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS),
focusing on high‐risk gene variants, demographics, and morbidity. We employed the …