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 …

The last decade has witnessed an explosion in the identification of genes, mutations in
which appear sufficient to cause clinical phenotypes in humans. This is especially true for …

Studies of human genetic disorders have traditionally followed a reductionist paradigm.
Traits are defined as Mendelian or complex based on family pedigree and population data …

Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders
such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies …

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder,
characterized by both congenital and late onset defects. From the analysis of the mutational …

Mutations in RPGRIP1L result in severe human diseases called ciliopathies. To unravel the
molecular function of RPGRIP1L, we analyzed Rpgrip1l−/− mouse embryos, which display a …

Vision impairment places a serious burden on the aging society, affecting the lives of
millions of people. Many retinal diseases are of genetic origin, of which over 50% are due to …

The primary cilium is an organelle that nearly all cells within the body contain. Its function is
to sense the extracellular environment through its abundance of receptors and linked …

The BBSome is an octameric protein complex involved in Bardet-Biedl syndrome (BBS), a
human pleiotropic, autosomal recessive condition. Patients with BBS display various clinical …

Bardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy.
Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits …