The BBSome is an octameric protein complex that regulates ciliary transport and signaling.
Mutations in BBSome subunits are closely associated with ciliary defects and lead to …

Owing to their crucial roles in development and homeostasis, defects in cilia cause
ciliopathies with diverse clinical manifestations. The intraflagellar transport (IFT) machinery …

Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by
renal cysts. Despite extensive research in this field, there are no reliable genetics or other …

Abstract Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder
with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies …

Abstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically
heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of …

Objective: To determine the effects of multidisciplinary team (MDT) nursing mode on the
swallowing function and oral hygiene in patients after radical resection of tongue cancer …

Bardet–Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous
clinical manifestations. The present study reports the clinical features of a novel compound …

Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by
retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment …

Bardet-Biedl syndrome is a central obesity syndrome with a hereditary link affecting non-
motile cilia that can be diagnosed clinically. Central obesity and polydactyly are important …

The Sonic Hedgehog (SHH) ligand is necessary and sufficient for ventral patterning of the
developing neural tube, however the mechanisms underlying SHH-mediated regulation of …