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Results: 15

Related Articles by Review for PubMed (Select 22446187)

1.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.

J Clin Invest. 2012 Apr;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. Erratum in: J Clin Invest. 2012 Aug 1;122(8):3025. Zhang, Jun [added].

2.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA.

Hum Mol Genet. 2012 Oct 15;21(R1):R111-24. Epub 2012 Jul 26. Review.

3.

CEP290 and the primary cilium.

Drivas TG, Bennett J.

Adv Exp Med Biol. 2014;801:519-25. doi: 10.1007/978-1-4614-3209-8_66. Review.

PMID:
24664739
4.

The molecular genetics of Bardet-Biedl syndrome.

Sheffield VC, Nishimura D, Stone EM.

Curr Opin Genet Dev. 2001 Jun;11(3):317-21. Review.

PMID:
11377969
5.

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F, Lefever S, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review.

PMID:
20690115
6.

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.

7.

The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.

Sheffield VC.

Trans Am Clin Climatol Assoc. 2010;121:172-81; discussion 181-2. Review.

8.

Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.

Sorusch N, Wunderlich K, Bauss K, Nagel-Wolfrum K, Wolfrum U.

Adv Exp Med Biol. 2014;801:527-33. doi: 10.1007/978-1-4614-3209-8_67. Review.

PMID:
24664740
9.

Protein networks and complexes in photoreceptor cilia.

Roepman R, Wolfrum U.

Subcell Biochem. 2007;43:209-35. Review.

PMID:
17953396
10.
11.

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
12.

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
13.

The role of primary cilia in the development and disease of the retina.

Wheway G, Parry DA, Johnson CA.

Organogenesis. 2014 Jan 1;10(1):69-85. doi: 10.4161/org.26710. Epub 2013 Oct 25. Review.

14.

Influences of primary cilia on cortical morphogenesis and neuronal subtype maturation.

Sarkisian MR, Guadiana SM.

Neuroscientist. 2015 Apr;21(2):136-51. doi: 10.1177/1073858414531074. Epub 2014 Apr 16. Review.

PMID:
24740576
15.

Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview.

Powles-Glover N.

Reprod Toxicol. 2014 Sep;48:98-105. doi: 10.1016/j.reprotox.2014.05.005. Epub 2014 May 23. Review.

PMID:
24859270
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