[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

M Chaki, R Airik, AK Ghosh, RH Giles, R Chen… - Cell, 2012 - cell.com
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

EA Otto, TW Hurd, R Airik, M Chaki, W Zhou… - Nature …, 2010 - nature.com
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

HH Arts, D Doherty, SEC van Beersum, MA Parisi… - Nature …, 2007 - nature.com
Protein-protein interaction analyses have uncovered a ciliary and basal body protein
network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital …

DYX1C1 is required for axonemal dynein assembly and ciliary motility

A Tarkar, NT Loges, CE Slagle, R Francis… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

[HTML][HTML] CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

NT Gorden, HH Arts, MA Parisi, KLM Coene… - The American Journal of …, 2008 - cell.com
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive
conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual …

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

G Wheway, M Schmidts, DA Mans, K Szymanska… - Nature cell …, 2015 - nature.com
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …

[HTML][HTML] An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas… - Nature …, 2016 - nature.com
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here
we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood …

[PDF][PDF] OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

KLM Coene, R Roepman, D Doherty, B Afroze… - The American Journal of …, 2009 - cell.com
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The
presence of asymptomatic obligate carrier females suggested an X-linked recessive …

[PDF][PDF] CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

R Hjeij, A Onoufriadis, CM Watson, CE Slagle… - The American Journal of …, 2014 - cell.com
A diverse family of cytoskeletal dynein motors powers various cellular transport systems,
including axonemal dyneins generating the force for ciliary and flagellar beating essential to …

[HTML][HTML] CiliaCarta: An integrated and validated compendium of ciliary genes

TJP Van Dam, J Kennedy, R van Der Lee, E De Vrieze… - PloS one, 2019 - journals.plos.org
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction
causes a wide range of genetic diseases collectively called ciliopathies. The current rate at …