Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]
Front Vet SciToler S, Abrams K, Ward D.
europepmc +1 more source
Ancient Origin of Chaperonin Gene Paralogs Involved in Ciliopathies
, 2013 Krishanu Mukherjee
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A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice
, 2014 Péter Ács +6 more
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CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology
Kidney International ReportsIntroduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes.
Miriam Zacchia +12 more
doaj
Should GLP-1 receptor agonist therapy be used to treat obesity in Bardet-Biedl syndrome? [PDF]
J Clin InvestTomlinson JW.
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Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy [PDF]
, 2017 Johannes Birtel +10 more
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Phenotypic Spectrum of <i>KATNIP</i>-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature. [PDF]
Genes (Basel)Tedesco MG +8 more
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
American Journal of Human Genetics, 2020 B. Cogné +26 more
semanticscholar +1 more source
Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies [PDF]
, 2017 Elizabeth N. Schock +1 more
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