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Human Genetics|September 28, 2012
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeMagdalena Cardenas-Rodriguez, Daniel P S Osborn, Florencia Irigoín, et al.
Human Molecular Genetics|June 4, 2013
The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complexMagdalena Cardenas-Rodriguez, Florencia Irigoín, Daniel P S Osborn, et al.
Retina (Philadelphia, Pa.)|August 30, 2014
Evaluation of visual function and needs in adult patients with bardet-biedl syndromeAlastair K Denniston, Philip L Beales, Paul J Tomlins, et al.
Genes|January 21, 2023
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 MutationsPiranit Kantaputra, Prapai Dejkhamron, Rekwan Sittiwangkul, et al.
Disease Models & Mechanisms|March 9, 2013
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndromeFahad Mahmood, Monika Mozere, Anselm A Zdebik, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Intellectual disability, unusual facial morphology and hand anomalies in sibsSérgio B Sousa, Margarida Venâncio, Estelle Chanudet, et al.
Mechanisms of Development|January 31, 2016
Non-essential role for cilia in coordinating precise alignment of lens fibresYuki Sugiyama, Elizabeth J Shelley, Bradley K Yoder, et al.
Human Molecular Genetics|January 10, 2012
The Lowe syndrome protein OCRL1 is involved in primary cilia assemblyBrian G Coon, Victor Hernandez, Kayalvizhi Madhivanan, et al.
Journal of Cell Science|June 22, 2012
Heat shock induces rapid resorption of primary ciliaNatalia V Prodromou, Clare L Thompson, Daniel P S Osborn, et al.
Methods in Molecular Biology (Clifton, N.J.)|October 19, 2023
Affinity Purification of Intraflagellar Transport (IFT) Proteins in Mice Using Endogenous Streptavidin/FLAG TagsTina Beyer, Tiago Martins, Jeshmi Jeyabalan Srikaran, et al.
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