6 Result(s)

Article

Abnormal glycosylation in Joubert syndrome type 10

The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-y...

Megan S. Kane, Mariska Davids, Michelle R. Bond, Christopher J. Adams… in Cilia (2017)

Article

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

A Onoufriadis, R Hjeij, CM Watson, CE Slagle, NT Klena, GW Dougherty, M Kurkowiak… in Cilia (2015)

Article

Loss of primary cilia occurs early in breast cancer development

Primary cilia are microtubule-based organelles that protrude from the cell surface. Primary cilia play a critical role in development and disease through regulation of signaling pathways including the Hedgehog...

Ina Menzl, Lauren Lebeau, Ritu Pandey, Nadia B Hassounah, Frank W Li, Ray Nagle… in Cilia (2014)

Article

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

Ciliopathies encompass a broad array of clinical findings associated with genetic defects in biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the transduction of diverse bio...

Rivka A Rachel, Tiansen Li, Anand Swaroop in Cilia (2012)

Article

Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles

H May-Simera, R Rachel, B Choi, T Li, T Friedman, A Swaroop, M Kelley in Cilia (2012)

Article

Tubby is required for trafficking G protein-coupled receptors to neuronal cilia

Tubby is the founding member of the tubby-like family of proteins. The naturally occurring tubby mutation in mice causes retinitis pigmentosa, hearing loss and obesity. Tubby has been proposed to function as an a...

Xun Sun, James Haley, Oleg V Bulgakov, Xue Cai, James McGinnis, Tiansen Li in Cilia (2012)