Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

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 …

Primary cilia are hair-like structures that protrude from the cell surface. They are capable of
sensing external cues and conveying a vast array of signals into cells to regulate a variety of …

Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal
involvement. However, despite sporadic cases in large cohort sequencing studies, a clear …

Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in
diverse physiological processes, including embryonic development, neurological function …

Abstract Purpose Biallelic INPP4A variants have recently been associated with severe
neurodevelopmental disease in single case reports. Here, we expand and elucidate the …

Human exocyst complex is an evolutionary conserved multimeric complex composed of
proteins encoded by eight genes EXOC1-EXOC8. It is known that the exocyst complex plays …

The hedgehog signaling pathway is best known for its role in developmental patterning of
the neural tube and limb bud. More recently, hedgehog signaling has been recognized for …

Abstract Background Bardet-Biedl Syndrome (BBS) is a rare (1: 13,500-1-160,000)
heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity …

Background Primary cilia are static microtubule‐based structures protruding from the cell
surface and present on most vertebrate cells. The appropriate localization of phospholipids …