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Items: 1 to 20 of 101

1.

Cilia in hereditary cerebral anomalies.

Thomas S, Boutaud L, Reilly ML, Benmerah A.

Biol Cell. 2019 Jun 8. doi: 10.1111/boc.201900012. [Epub ahead of print] Review.

PMID:
31177551
2.

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Lewis WR, Malarkey EB, Tritschler D, Bower R, Pasek RC, Porath JD, Birket SE, Saunier S, Antignac C, Knowles MR, Leigh MW, Zariwala MA, Challa AK, Kesterson RA, Rowe SM, Drummond IA, Parant JM, Hildebrandt F, Porter ME, Yoder BK, Berbari NF.

PLoS Genet. 2016 Jul 29;12(7):e1006220. doi: 10.1371/journal.pgen.1006220. eCollection 2016 Jul.

3.
4.

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
5.

Role of cilia in structural birth defects: insights from ciliopathy mutant mouse models.

Rao Damerla R, Gabriel GC, Li Y, Klena NT, Liu X, Chen Y, Cui C, Pazour GJ, Lo CW.

Birth Defects Res C Embryo Today. 2014 Jun;102(2):115-25. doi: 10.1002/bdrc.21067. Review.

PMID:
24975753
6.

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.

Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin JT, Francis R, Tansey T, Henry C, Wang B, Lemley B, Pazour GJ, Lo CW.

Dis Model Mech. 2011 Jan;4(1):43-56. doi: 10.1242/dmm.006262. Epub 2010 Nov 2.

7.

Live cell imaging of dynamic behaviors of motile cilia and primary cilium.

Ijaz F, Ikegami K.

Microscopy (Oxf). 2019 Apr 1;68(2):99-110. doi: 10.1093/jmicro/dfy147. Review.

PMID:
30715429
8.

Primary ciliary dyskinesia and associated sensory ciliopathies.

Horani A, Ferkol TW.

Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Epub 2016 Mar 28. Review.

9.

The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.

Jerber J, Baas D, Soulavie F, Chhin B, Cortier E, Vesque C, Thomas J, Durand B.

Hum Mol Genet. 2014 Feb 1;23(3):563-77. doi: 10.1093/hmg/ddt445. Epub 2013 Sep 18.

PMID:
24067530
10.

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.

11.

To beat, or not to beat, that is question! The spectrum of ciliopathies.

Kempeneers C, Chilvers MA.

Pediatr Pulmonol. 2018 Aug;53(8):1122-1129. doi: 10.1002/ppul.24078. Epub 2018 Jun 25. Review.

PMID:
29938933
12.

Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.

Ding W, Wu Q, Sun L, Pan NC, Wang X.

J Neurosci. 2019 Mar 13;39(11):1994-2010. doi: 10.1523/JNEUROSCI.1849-18.2018. Epub 2019 Jan 9.

PMID:
30626697
13.

Unmasking the ciliopathies: craniofacial defects and the primary cilium.

Cortés CR, Metzis V, Wicking C.

Wiley Interdiscip Rev Dev Biol. 2015 Nov-Dec;4(6):637-53. doi: 10.1002/wdev.199. Epub 2015 Jul 14. Review.

PMID:
26173831
14.

Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.

Zhang C, Zhang Q, Wang F, Liu Q.

Biochem Biophys Res Commun. 2015 Oct 2;465(4):651-7. doi: 10.1016/j.bbrc.2015.06.083. Epub 2015 Jul 15.

15.

Cell context-specific expression of primary cilia in the human testis and ciliary coordination of Hedgehog signalling in mouse Leydig cells.

Nygaard MB, Almstrup K, Lindbæk L, Christensen ST, Svingen T.

Sci Rep. 2015 May 20;5:10364. doi: 10.1038/srep10364.

16.

Ciliary dysfunction in developmental abnormalities and diseases.

Sharma N, Berbari NF, Yoder BK.

Curr Top Dev Biol. 2008;85:371-427. doi: 10.1016/S0070-2153(08)00813-2. Review.

PMID:
19147012
17.

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.

Miller KA, Ah-Cann CJ, Welfare MF, Tan TY, Pope K, Caruana G, Freckmann ML, Savarirayan R, Bertram JF, Dobbie MS, Bateman JF, Farlie PG.

PLoS Genet. 2013 Aug;9(8):e1003746. doi: 10.1371/journal.pgen.1003746. Epub 2013 Aug 29.

18.

[Ciliopaties - diseases caused by abnormal cilia functioning].

Joachimiak E, Włoga D, Filipek A, Fabczak H.

Postepy Biochem. 2018 Dec 29;64(4):338-350. doi: 10.18388/pb.2018_148. Review. Polish.

19.

Primary Cilia in Brain Development and Diseases.

Youn YH, Han YG.

Am J Pathol. 2018 Jan;188(1):11-22. doi: 10.1016/j.ajpath.2017.08.031. Epub 2017 Oct 10. Review.

20.

Tectonic Proteins Are Important Players in Non-Motile Ciliopathies.

Gong S, Ji F, Wang B, Zhang Y, Xu X, Sun M.

Cell Physiol Biochem. 2018;50(1):398-409. doi: 10.1159/000494017. Epub 2018 Oct 4. Review.

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