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Items: 17

1.

Notch/Her12 signalling modulates, motile/immotile cilia ratio downstream of Foxj1a in zebrafish left-right organizer.

Tavares B, Jacinto R, Sampaio P, Pestana S, Pinto A, Vaz A, Roxo-Rosa M, Gardner R, Lopes T, Schilling B, Henry I, Saúde L, Lopes SS.

Elife. 2017 Sep 6;6. pii: e25165. doi: 10.7554/eLife.25165.

2.

Axonemal dynein light chain-1 locates at the microtubule-binding domain of the γ heavy chain.

Ichikawa M, Saito K, Yanagisawa HA, Yagi T, Kamiya R, Yamaguchi S, Yajima J, Kushida Y, Nakano K, Numata O, Toyoshima YY.

Mol Biol Cell. 2015 Nov 15;26(23):4236-47. doi: 10.1091/mbc.E15-05-0289. Epub 2015 Sep 23.

3.

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

Praveen K, Davis EE, Katsanis N.

F1000Prime Rep. 2015 Mar 10;7:36. doi: 10.12703/P7-36. eCollection 2015. Review.

4.

Recent advances in primary ciliary dyskinesia genetics.

Kurkowiak M, Ziętkiewicz E, Witt M.

J Med Genet. 2015 Jan;52(1):1-9. doi: 10.1136/jmedgenet-2014-102755. Epub 2014 Oct 28. Review.

5.

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Boon M, Smits A, Cuppens H, Jaspers M, Proesmans M, Dupont LJ, Vermeulen FL, Van Daele S, Malfroot A, Godding V, Jorissen M, De Boeck K.

Orphanet J Rare Dis. 2014 Jan 22;9:11. doi: 10.1186/1750-1172-9-11.

6.

Coordinated genomic control of ciliogenesis and cell movement by RFX2.

Chung MI, Kwon T, Tu F, Brooks ER, Gupta R, Meyer M, Baker JC, Marcotte EM, Wallingford JB.

Elife. 2014;3:e01439. doi: 10.7554/eLife.01439. Epub 2014 Jan 14.

7.

Picking up speed: advances in the genetics of primary ciliary dyskinesia.

Horani A, Brody SL, Ferkol TW.

Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5. Review.

8.

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, Lavange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krischer J, Zariwala MA, Knowles MR.

Ann Am Thorac Soc. 2013 Dec;10(6):574-81. doi: 10.1513/AnnalsATS.201305-110OC.

9.

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E.

PLoS One. 2013 Aug 26;8(8):e72299. doi: 10.1371/journal.pone.0072299. eCollection 2013.

10.

LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

Horani A, Ferkol TW, Shoseyov D, Wasserman MG, Oren YS, Kerem B, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Brody SL, Elpeleg O, Kerem E.

PLoS One. 2013;8(3):e59436. doi: 10.1371/journal.pone.0059436. Epub 2013 Mar 19.

11.

Knockdown of MAP4 and DNAL1 produces a post-fusion and pre-nuclear translocation impairment in HIV-1 replication.

Gallo DE, Hope TJ.

Virology. 2012 Jan 5;422(1):13-21. doi: 10.1016/j.virol.2011.09.015. Epub 2011 Oct 22.

12.

A systems-biology approach to understanding the ciliopathy disorders.

Lee JE, Gleeson JG.

Genome Med. 2011 Sep 26;3(9):59. doi: 10.1186/gm275.

13.

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R.

Am J Hum Genet. 2011 May 13;88(5):599-607. doi: 10.1016/j.ajhg.2011.03.018. Epub 2011 Apr 14.

14.

A role for central spindle proteins in cilia structure and function.

Smith KR, Kieserman EK, Wang PI, Basten SG, Giles RH, Marcotte EM, Wallingford JB.

Cytoskeleton (Hoboken). 2011 Feb;68(2):112-24. doi: 10.1002/cm.20498. Epub 2011 Jan 12.

15.

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA.

Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Review.

16.

The dynamic cilium in human diseases.

D'Angelo A, Franco B.

Pathogenetics. 2009 May 13;2(1):3. doi: 10.1186/1755-8417-2-3.

17.

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. Epub 2007 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6490.

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