Ciliary Motility Disorders research, articles, guidelines & medical evidence database search.
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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Research
Modeling human disease in humans: the ciliopathies.
Novarino Gaia, Akizu Naiara, Gleeson Joseph G
Cell Vol 147(1)
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Date 30 Sep 2011
Research
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Sang Liyun, Miller Julie J, Corbit Kevin C, Giles Rachel H, Brauer Matthew J ...
Cell Vol 145(4)
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Date 13 May 2011
Research
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Becker-Heck Anita, Zohn Irene E, Okabe Noriko, Pollock Andrew, Lenhart Kari Baker ...
Nature genetics Vol 43(1)
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Date 01 Jan 2011
Research
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille Anne-Christine, Davis Erica E, Becker-Heck Anita, Legendre Marie, Amirav Israel ...
Nature genetics Vol 43(1)
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Date 01 Jan 2011
Research
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Wirschell Maureen, Olbrich Heike, Werner Claudius, Tritschler Douglas, Bower Raqual ...
Nature genetics Vol 45(3)
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Date 01 Mar 2013
Research
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis Erica E, Zhang Qi, Liu Qin, Diplas Bill H, Davey Lisa M ...
Nature genetics Vol 43(3)
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Date 01 Mar 2011
Research
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts Heleen H, Doherty Dan, van Beersum Sylvia E C, Parisi Melissa A, Letteboer Stef J F ...
Nature genetics Vol 39(7)
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Date 01 Jul 2007
Research
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee Ji Eun, Silhavy Jennifer L, Zaki Maha S, Schroth Jana, Bielas Stephanie L ...
Nature genetics Vol 44(2)
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Date 15 Jan 2012
Research
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous Marion, Baala Lekbir, Salomon Rémi, Laclef Christine, Vierkotten Jeanette ...
Nature genetics Vol 39(7)
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Date 01 Jul 2007
Research
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Olbrich Heike, Häffner Karsten, Kispert Andreas, Völkel Alexander, Volz Andreas ...
Nature genetics Vol 30(2)
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Date 01 Feb 2002
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