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Items: 1 to 20 of 95

1.

Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus.

Dafinger C, Rinschen MM, Borgal L, Ehrenberg C, Basten SG, Franke M, Höhne M, Rauh M, Göbel H, Bloch W, Wunderlich FT, Peters DJM, Tasche D, Mishra T, Habbig S, Dötsch J, Müller RU, Brüning JC, Persigehl T, Giles RH, Benzing T, Schermer B, Liebau MC.

Exp Mol Med. 2018 Jun 28;50(6):75. doi: 10.1038/s12276-018-0108-z.

2.

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

Wilson GR, Wang HX, Egan GF, Robinson PJ, Delatycki MB, O'Bryan MK, Lockhart PJ.

Hum Mol Genet. 2010 Apr 15;19(8):1593-602. doi: 10.1093/hmg/ddq031. Epub 2010 Jan 27.

PMID:
20106870
3.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.

Hartill VL, van de Hoek G, Patel MP, Little R, Watson CM, Berry IR, Shoemark A, Abdelmottaleb D, Parkes E, Bacchelli C, Szymanska K, Knoers NV, Scambler PJ, Ueffing M, Boldt K, Yates R, Winyard PJ, Adler B, Moya E, Hattingh L, Shenoy A, Hogg C, Sheridan E, Roepman R, Norris D, Mitchison HM, Giles RH, Johnson CA.

Hum Mol Genet. 2018 Feb 1;27(3):529-545. doi: 10.1093/hmg/ddx422.

4.
5.

Ulk4 Is Essential for Ciliogenesis and CSF Flow.

Liu M, Guan Z, Shen Q, Lalor P, Fitzgerald U, O'Brien T, Dockery P, Shen S.

J Neurosci. 2016 Jul 20;36(29):7589-600. doi: 10.1523/JNEUROSCI.0621-16.2016.

6.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.

PMID:
29121203
7.

Defective motile cilia in Prickle2-deficient mice.

Sowers LP, Yin T, Mahajan VB, Bassuk AG.

J Neurogenet. 2014 Mar-Jun;28(1-2):146-52. doi: 10.3109/01677063.2014.885966. Epub 2014 Apr 7.

PMID:
24708399
8.

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Rachel RA, Yamamoto EA, Dewanjee MK, May-Simera HL, Sergeev YV, Hackett AN, Pohida K, Munasinghe J, Gotoh N, Wickstead B, Fariss RN, Dong L, Li T, Swaroop A.

Hum Mol Genet. 2015 Jul 1;24(13):3775-91. doi: 10.1093/hmg/ddv123. Epub 2015 Apr 9.

9.

Genes and molecular pathways underpinning ciliopathies.

Reiter JF, Leroux MR.

Nat Rev Mol Cell Biol. 2017 Sep;18(9):533-547. doi: 10.1038/nrm.2017.60. Epub 2017 Jul 12. Review.

10.

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
11.

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.

May-Simera HL, Wan Q, Jha BS, Hartford J, Khristov V, Dejene R, Chang J, Patnaik S, Lu Q, Banerjee P, Silver J, Insinna-Kettenhofen C, Patel D, Lotfi M, Malicdan M, Hotaling N, Maminishkis A, Sridharan R, Brooks B, Miyagishima K, Gunay-Aygun M, Pal R, Westlake C, Miller S, Sharma R, Bharti K.

Cell Rep. 2018 Jan 2;22(1):189-205. doi: 10.1016/j.celrep.2017.12.038.

12.

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.

Nevers Y, Prasad MK, Poidevin L, Chennen K, Allot A, Kress A, Ripp R, Thompson JD, Dollfus H, Poch O, Lecompte O.

Mol Biol Evol. 2017 Aug 1;34(8):2016-2034. doi: 10.1093/molbev/msx146.

13.

Loss of Dishevelleds disrupts planar polarity in ependymal motile cilia and results in hydrocephalus.

Ohata S, Nakatani J, Herranz-Pérez V, Cheng J, Belinson H, Inubushi T, Snider WD, García-Verdugo JM, Wynshaw-Boris A, Alvarez-Buylla A.

Neuron. 2014 Aug 6;83(3):558-71. doi: 10.1016/j.neuron.2014.06.022. Epub 2014 Jul 18.

14.

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
15.

Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia.

Lee L.

J Neurosci Res. 2013 Sep;91(9):1117-32. doi: 10.1002/jnr.23238. Epub 2013 May 17. Review.

PMID:
23686703
16.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

Abdelhamed Z, Vuong SM, Hill L, Shula C, Timms A, Beier D, Campbell K, Mangano FT, Stottmann RW, Goto J.

Development. 2018 Jan 9;145(1). pii: dev154500. doi: 10.1242/dev.154500.

17.

Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus.

Appelbe OK, Bollman B, Attarwala A, Triebes LA, Muniz-Talavera H, Curry DJ, Schmidt JV.

Dev Biol. 2013 Oct 1;382(1):172-85. doi: 10.1016/j.ydbio.2013.07.003. Epub 2013 Jul 29.

18.

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.

19.

Human DNA helicase, RuvBL1 and its Chlamydomonas homologue, CrRuvBL1 plays an important role in ciliogenesis.

Tammana D, Tammana TVS.

Cytoskeleton (Hoboken). 2017 Jul;74(7):251-259. doi: 10.1002/cm.21377. Epub 2017 Jun 15.

PMID:
28574207
20.

Temporal relationship between primary and motile ciliogenesis in airway epithelial cells.

Jain R, Pan J, Driscoll JA, Wisner JW, Huang T, Gunsten SP, You Y, Brody SL.

Am J Respir Cell Mol Biol. 2010 Dec;43(6):731-9. doi: 10.1165/rcmb.2009-0328OC. Epub 2010 Jan 29.

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