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Items: 1 to 20 of 29


Understanding Mechanisms of GLI-Mediated Transcription during Craniofacial Development and Disease Using the Ciliopathic Mutant, talpid2.

Chang YT, Chaturvedi P, Schock EN, Brugmann SA.

Front Physiol. 2016 Oct 17;7:468. eCollection 2016.


Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans.

Miao C, Jiang Q, Li H, Zhang Q, Bai B, Bao Y, Zhang T.

G3 (Bethesda). 2016 Oct 13;6(10):3307-3316. doi: 10.1534/g3.116.033696.


An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P.

Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27.


Update on oral-facial-digital syndromes (OFDS).

Franco B, Thauvin-Robinet C.

Cilia. 2016 May 2;5:12. doi: 10.1186/s13630-016-0034-4. eCollection 2016. Review.


A primer on the mouse basal body.

Garcia G 3rd, Reiter JF.

Cilia. 2016 Apr 25;5:17. doi: 10.1186/s13630-016-0038-0. eCollection 2016. Review.


Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C.

Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.


Genetic link between renal birth defects and congenital heart disease.

San Agustin JT, Klena N, Granath K, Panigrahy A, Stewart E, Devine W, Strittmatter L, Jonassen JA, Liu X, Lo CW, Pazour GJ.

Nat Commun. 2016 Mar 22;7:11103. doi: 10.1038/ncomms11103.


Human basal body basics.

Vertii A, Hung HF, Hehnly H, Doxsey S.

Cilia. 2016 Mar 14;5:13. doi: 10.1186/s13630-016-0030-8. eCollection 2016. Review.


Utilizing the chicken as an animal model for human craniofacial ciliopathies.

Schock EN, Chang CF, Youngworth IA, Davey MG, Delany ME, Brugmann SA.

Dev Biol. 2016 Jul 15;415(2):326-337. doi: 10.1016/j.ydbio.2015.10.024. Epub 2015 Oct 24. Review.


Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.

Schock EN, Chang CF, Struve JN, Chang YT, Chang J, Delany ME, Brugmann SA.

Dis Model Mech. 2015 Aug 1;8(8):855-66. doi: 10.1242/dmm.020222. Epub 2015 Jun 4.


The Hedgehog pathway: role in cell differentiation, polarity and proliferation.

Jia Y, Wang Y, Xie J.

Arch Toxicol. 2015 Feb;89(2):179-91. doi: 10.1007/s00204-014-1433-1. Epub 2015 Jan 6. Review.


SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.

von Tobel L, Mikeladze-Dvali T, Delattre M, Balestra FR, Blanchoud S, Finger S, Knott G, Müller-Reichert T, Gönczy P.

PLoS Genet. 2014 Nov 20;10(11):e1004777. doi: 10.1371/journal.pgen.1004777. eCollection 2014 Nov.


The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2.

Chang CF, Schock EN, O'Hare EA, Dodgson J, Cheng HH, Muir WM, Edelmann RE, Delany ME, Brugmann SA.

Development. 2014 Aug;141(15):3003-12. doi: 10.1242/dev.105924.


The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV.

Nat Genet. 2014 Aug;46(8):905-11. doi: 10.1038/ng.3031. Epub 2014 Jul 6.


Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.

Čajánek L, Nigg EA.

Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):E2841-50. doi: 10.1073/pnas.1401777111. Epub 2014 Jun 30.


C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.

Ye X, Zeng H, Ning G, Reiter JF, Liu A.

Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2164-9. doi: 10.1073/pnas.1318737111. Epub 2014 Jan 27.


Targeting hedgehog signaling in cancer: research and clinical developments.

Xie J, Bartels CM, Barton SW, Gu D.

Onco Targets Ther. 2013 Oct 10;6:1425-35. doi: 10.2147/OTT.S34678. Review.


Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.

Zhang D, Aravind L.

Cell Cycle. 2012 Oct 15;11(20):3861-75. doi: 10.4161/cc.22068. Epub 2012 Sep 14.


CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.

Nat Genet. 2012 Jan 15;44(2):193-9. doi: 10.1038/ng.1078.


Hedgehog signaling in skin cancers.

Li C, Chi S, Xie J.

Cell Signal. 2011 Aug;23(8):1235-43. doi: 10.1016/j.cellsig.2011.03.002. Epub 2011 Mar 17. Review.

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