[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
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 …
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
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …
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 …
network that, when disrupted, can result in nephronophthisis (NPHP), Leber congenital …
DYX1C1 is required for axonemal dynein assembly and ciliary motility
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
causes a wide range of genetic diseases collectively called ciliopathies. The current rate at …