Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 40

1.

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.

2.

Modeling human disease in humans: the ciliopathies.

Novarino G, Akizu N, Gleeson JG.

Cell. 2011 Sep 30;147(1):70-9. doi: 10.1016/j.cell.2011.09.014.

3.

Expression of Sonic hedgehog during cell proliferation in the human cerebellum.

Haldipur P, Bharti U, Govindan S, Sarkar C, Iyengar S, Gressens P, Mani S.

Stem Cells Dev. 2012 May 1;21(7):1059-68. doi: 10.1089/scd.2011.0206. Epub 2011 Aug 24.

PMID:
21732818
4.

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF.

Nat Genet. 2011 Jul 3;43(8):776-84. doi: 10.1038/ng.891.

5.

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

Lancaster MA, Gopal DJ, Kim J, Saleem SN, Silhavy JL, Louie CM, Thacker BE, Williams Y, Zaki MS, Gleeson JG.

Nat Med. 2011 Jun;17(6):726-31. doi: 10.1038/nm.2380. Epub 2011 May 29.

6.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.

Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.

7.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T.

Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8.

8.

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Lee JE, Gleeson JG.

Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05. Review.

9.

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM.

J Cell Sci. 2011 Feb 15;124(Pt 4):600-12. doi: 10.1242/jcs.077156. Epub 2011 Jan 25.

10.

Ciliopathies: an expanding disease spectrum.

Waters AM, Beales PL.

Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Review.

11.

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.

12.

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P.

Am J Med Genet A. 2010 Jun;152A(6):1411-9. doi: 10.1002/ajmg.a.33416.

13.

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia.

Molla-Herman A, Ghossoub R, Blisnick T, Meunier A, Serres C, Silbermann F, Emmerson C, Romeo K, Bourdoncle P, Schmitt A, Saunier S, Spassky N, Bastin P, Benmerah A.

J Cell Sci. 2010 May 15;123(Pt 10):1785-95. doi: 10.1242/jcs.059519. Epub 2010 Apr 27.

14.

Transventricular delivery of Sonic hedgehog is essential to cerebellar ventricular zone development.

Huang X, Liu J, Ketova T, Fleming JT, Grover VK, Cooper MK, Litingtung Y, Chiang C.

Proc Natl Acad Sci U S A. 2010 May 4;107(18):8422-7. doi: 10.1073/pnas.0911838107. Epub 2010 Apr 16.

15.

The primary cilium: a signalling centre during vertebrate development.

Goetz SC, Anderson KV.

Nat Rev Genet. 2010 May;11(5):331-44. doi: 10.1038/nrg2774. Review.

16.

The primary cilium as a Hedgehog signal transduction machine.

Goetz SC, Ocbina PJ, Anderson KV.

Methods Cell Biol. 2009;94:199-222. doi: 10.1016/S0091-679X(08)94010-3. Epub 2009 Dec 23.

17.

Dual and opposing roles of primary cilia in medulloblastoma development.

Han YG, Kim HJ, Dlugosz AA, Ellison DW, Gilbertson RJ, Alvarez-Buylla A.

Nat Med. 2009 Sep;15(9):1062-5. doi: 10.1038/nm.2020. Epub 2009 Aug 23.

18.

The nonmotile ciliopathies.

Tobin JL, Beales PL.

Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882. Review.

PMID:
19421068
19.

A mouse model for Meckel syndrome type 3.

Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT.

J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.

20.

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Kim J, Krishnaswami SR, Gleeson JG.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.

Supplemental Content

Support Center