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Items: 1 to 20 of 46

1.

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF.

Nat Genet. 2011 Jul 3;43(8):776-84. doi: 10.1038/ng.891.

2.

Expanding horizons: ciliary proteins reach beyond cilia.

Yuan S, Sun Z.

Annu Rev Genet. 2013;47:353-76. doi: 10.1146/annurev-genet-111212-133243. Epub 2013 Sep 6. Review.

PMID:
24016188
3.

[Hereditary cerebro-oculo-renal syndromes].

Sessa G, Hjortshøj TD, Egfjord M.

Ugeskr Laeger. 2014 Feb 17;176(8A):V07130452. Review. Danish.

PMID:
25350305
4.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Lee JE, Gleeson JG.

Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05. Review.

5.

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.

Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Review.

6.

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.

Logan CV, Abdel-Hamed Z, Johnson CA.

Mol Neurobiol. 2011 Feb;43(1):12-26. doi: 10.1007/s12035-010-8154-0. Epub 2010 Nov 27. Review.

PMID:
21110233
7.

[Joubert syndrome and related disorders].

Paprocka J, Jamroz E.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. Review.

PMID:
23023437
8.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

Sattar S, Gleeson JG.

Dev Med Child Neurol. 2011 Sep;53(9):793-8. doi: 10.1111/j.1469-8749.2011.04021.x. Epub 2011 Jun 17. Review.

9.
10.

Motile and non-motile cilia in human pathology: from function to phenotypes.

Mitchison HM, Valente EM.

J Pathol. 2017 Jan;241(2):294-309. doi: 10.1002/path.4843. Review. Erratum in: J Pathol. 2017 Mar;241(4):564.

PMID:
27859258
11.

Ciliopathies: the trafficking connection.

Madhivanan K, Aguilar RC.

Traffic. 2014 Oct;15(10):1031-56. doi: 10.1111/tra.12195. Epub 2014 Aug 11. Review.

12.

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.

Romani M, Micalizzi A, Valente EM.

Lancet Neurol. 2013 Sep;12(9):894-905. doi: 10.1016/S1474-4422(13)70136-4. Epub 2013 Jul 17. Review.

13.

[Ciliopathy--cause of several peculiar syndromes].

Stenram U.

Lakartidningen. 2011 Feb 16-22;108(7):332-5. Review. Swedish. No abstract available.

PMID:
21539115
14.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O.

Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Review.

PMID:
27377014
15.

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

Barker AR, Thomas R, Dawe HR.

Organogenesis. 2014 Jan 1;10(1):96-107. doi: 10.4161/org.27375. Epub 2013 Dec 9. Review.

16.

The extracellular matrix and ciliary signaling.

Seeger-Nukpezah T, Golemis EA.

Curr Opin Cell Biol. 2012 Oct;24(5):652-61. doi: 10.1016/j.ceb.2012.06.002. Epub 2012 Jul 19. Review.

17.

The ciliary transitional zone and nephrocystins.

Shiba D, Yokoyama T.

Differentiation. 2012 Feb;83(2):S91-6. doi: 10.1016/j.diff.2011.11.006. Epub 2011 Dec 12. Review.

PMID:
22169048
18.

Gated entry into the ciliary compartment.

Takao D, Verhey KJ.

Cell Mol Life Sci. 2016 Jan;73(1):119-27. Review.

19.

Trafficking to the primary cilium membrane.

Mukhopadhyay S, Badgandi HB, Hwang SH, Somatilaka B, Shimada IS, Pal K.

Mol Biol Cell. 2017 Jan 15;28(2):233-239. doi: 10.1091/mbc.E16-07-0505. Review.

20.

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.

Reiter JF, Blacque OE, Leroux MR.

EMBO Rep. 2012 Jun 29;13(7):608-18. doi: 10.1038/embor.2012.73. Review.

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