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Items: 1 to 20 of 132

1.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.

J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864.

PMID:
21378380
2.

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001.

3.

Identification of CHE-13, a novel intraflagellar transport protein required for cilia formation.

Haycraft CJ, Schafer JC, Zhang Q, Taulman PD, Yoder BK.

Exp Cell Res. 2003 Apr 1;284(2):251-63.

PMID:
12651157
4.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.

Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.

5.

Functional genomics of the cilium, a sensory organelle.

Blacque OE, Perens EA, Boroevich KA, Inglis PN, Li C, Warner A, Khattra J, Holt RA, Ou G, Mah AK, McKay SJ, Huang P, Swoboda P, Jones SJ, Marra MA, Baillie DL, Moerman DG, Shaham S, Leroux MR.

Curr Biol. 2005 May 24;15(10):935-41.

6.

The BBSome controls IFT assembly and turnaround in cilia.

Wei Q, Zhang Y, Li Y, Zhang Q, Ling K, Hu J.

Nat Cell Biol. 2012 Sep;14(9):950-7. doi: 10.1038/ncb2560.

7.
8.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.

Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012.

9.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium., Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012.

10.

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH.

Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Review.

PMID:
24123776
11.

Ciliary disorder of the skeleton.

Huber C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):165-74. doi: 10.1002/ajmg.c.31336. Review.

PMID:
22791528
12.

The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.

Blacque OE, Li C, Inglis PN, Esmail MA, Ou G, Mah AK, Baillie DL, Scholey JM, Leroux MR.

Mol Biol Cell. 2006 Dec;17(12):5053-62.

13.

Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body.

Qin H, Diener DR, Geimer S, Cole DG, Rosenbaum JL.

J Cell Biol. 2004 Jan 19;164(2):255-66. Erratum in: J Cell Biol. 2004 Mar 15;164(6):following 941.

14.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006.

15.

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.

Bacino CA, Dhar SU, Brunetti-Pierri N, Lee B, Bonnen PE.

Am J Med Genet A. 2012 Nov;158A(11):2917-24. doi: 10.1002/ajmg.a.35608.

16.

Chlamydomonas IFT172 is encoded by FLA11, interacts with CrEB1, and regulates IFT at the flagellar tip.

Pedersen LB, Miller MS, Geimer S, Leitch JM, Rosenbaum JL, Cole DG.

Curr Biol. 2005 Feb 8;15(3):262-6.

17.

ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.

Chaya T, Omori Y, Kuwahara R, Furukawa T.

EMBO J. 2014 Jun 2;33(11):1227-42. doi: 10.1002/embj.201488175.

18.

Purification of IFT particle proteins and preparation of recombinant proteins for structural and functional analysis.

Behal RH, Betleja E, Cole DG.

Methods Cell Biol. 2009;93:179-96. doi: 10.1016/S0091-679X(08)93010-7.

PMID:
20409818
19.

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B.

Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003.

20.
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