A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Microtubule Motors Drive Hedgehog Signaling in Primary Cilia

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An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

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CPAP promotes timely cilium disassembly to maintain neural progenitor pool

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Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

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CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

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DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

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ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

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The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment

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3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders

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Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

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Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition

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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

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Clinical utility gene card for: Joubert Syndrome - update 2013

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Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

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The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone

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The Effects of Hedgehog on the RNA-Binding Protein Msi1 in the Proliferation and Apoptosis of Mesenchymal Stem Cells

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TCTN3 Mutations Cause Mohr-Majewski Syndrome

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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Hedgehog-Gli Pathway Activation during Kidney Fibrosis

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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

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CDK inhibitors R-roscovitine and S-CR8 effectively block renal and hepatic cystogenesis in an orthologous model of ADPKD

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Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

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Purmorphamine Increases DARPP-32 Differentiation in Human Striatal Neural Stem Cells Through the Hedgehog Pathway

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base

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ExpandingCEP290mutational spectrum in ciliopathies

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Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

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Nek8 Regulates the Expression and Localization of Polycystin-1 and Polycystin-2

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

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