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 …

Pancreatic islets regulate glucose homeostasis through coordinated actions of hormone-
secreting cells. What underlies the function of the islet as a unit is the close approximation …

There are 3 physiological waves of central hypothalamic-pituitary-gonadal (HPG) axis
activity over the lifetime. The first occurs during fetal life, the second—termed “mini-puberty” …

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 …

An emerging number of rare genetic disorders termed ciliopathies are associated with
pediatric obesity. It is becoming clear that the mechanisms associated with cilia dysfunction …

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

Bardet‐Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by
retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic …

Bardet-Biedl Syndrome Overview - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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The BBSome is a protein complex composed of eight Bardet–Biedl syndrome (BBS) proteins
including BBS1. Humans and mice lacking a functional BBSome display obesity and type 2 …