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Table 1 Molecular pathways associated with ciliary pathology in each affected tissue

From: Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

Organ/tissue/cell type Signaling/biogenesis pathway(s)
Wnt, Shh, PDGF, PCP
Reviews and other references
Retina – photoreceptors Ciliogenesis and transport [32, 33][34]
Cognition – brain GPCR trafficking to neuron cilia [35, 36] JBTS: [37][38, 39]
Cerebellum – granule cells? IFT, Wnt, Shh [4042]
Kidney cysts Wnt/PCP, Shh, mTOR, Ca2+; mechanosensation, fluid pressure, proliferation [4350]
Hepatic fibrosisa Ductal plate malformation – PCP?; receptors expressed on cilia; cysts – hyperproliferation [5157][46]
Polydactyly Shh [58]
Situs inversus Nodal, PCP [59]
Obesity Neuronal cilia receptors Shh [60][46]
Skeletal/thoracic Mechanical sensation, Shh, IFT [58, 6166]
Genitourinary Ca2+ [67]
Cardiorespiratory Heart – Shh, cardiogenesis; lung – primary cilia precede motile cilia [1, 68][69][70][71]
Neural tube defects/hydrocephalus Shh, PCP [72][73, 74]
  1. GPCR, G-protein coupled receptor; IFT, intraflagellar transport; JBTS, Joubert syndrome; PCP, planar cell polarity; PDGF, platelet-derived growth factor. aNote the importance of distinguishing primary (for example, PCP/ductal plate malformation) and secondary (for example, hepatic fibrosis and congestion) characteristics.