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Items: 1 to 20 of 139

1.

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K., Duncan EL, Mitchison HM.

Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.

2.

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. Epub 2013 Oct 17.

3.

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K., Knoers NV, Roepman R, Mitchison HM.

J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.

4.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V.

Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. Epub 2013 Oct 31.

5.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.

Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT.

Sci Rep. 2015 Jul 1;5:11649. doi: 10.1038/srep11649.

6.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K., Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Erratum in: Nat Commun. 2016;7:11270.

7.

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor.

Rompolas P, Pedersen LB, Patel-King RS, King SM.

J Cell Sci. 2007 Oct 15;120(Pt 20):3653-65. Epub 2007 Sep 25.

8.

Subunit composition of the human cytoplasmic dynein-2 complex.

Asante D, Stevenson NL, Stephens DJ.

J Cell Sci. 2014 Nov 1;127(Pt 21):4774-87. doi: 10.1242/jcs.159038. Epub 2014 Sep 9.

9.

The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions.

Blisnick T, Buisson J, Absalon S, Marie A, Cayet N, Bastin P.

Mol Biol Cell. 2014 Sep 1;25(17):2620-33. doi: 10.1091/mbc.E14-05-0961. Epub 2014 Jul 2.

10.

A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells.

Perrone CA, Tritschler D, Taulman P, Bower R, Yoder BK, Porter ME.

Mol Biol Cell. 2003 May;14(5):2041-56. Epub 2003 Jan 26.

11.

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

Cossu C, Incani F, Serra ML, Coiana A, Crisponi G, Boccone L, Rosatelli MC.

Clin Chim Acta. 2016 Apr 1;455:172-80. doi: 10.1016/j.cca.2016.02.006. Epub 2016 Feb 11.

PMID:
26874042
12.

ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.

Goggolidou P, Stevens JL, Agueci F, Keynton J, Wheway G, Grimes DT, Patel SH, Hilton H, Morthorst SK, DiPaolo A, Williams DJ, Sanderson J, Khoronenkova SV, Powles-Glover N, Ermakov A, Esapa CT, Romero R, Dianov GL, Briscoe J, Johnson CA, Pedersen LB, Norris DP.

Development. 2014 Oct;141(20):3966-77. doi: 10.1242/dev.107755.

13.

Complex interactions between genes controlling trafficking in primary cilia.

Ocbina PJ, Eggenschwiler JT, Moskowitz I, Anderson KV.

Nat Genet. 2011 Jun;43(6):547-53. doi: 10.1038/ng.832. Epub 2011 May 8.

14.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS; University of Washington Center for Mendelian Genomics Consortium., Nelson SF, Cohn DH, Vallee RB, Krakow D.

Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092.

15.

XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans.

Schafer JC, Haycraft CJ, Thomas JH, Yoder BK, Swoboda P.

Mol Biol Cell. 2003 May;14(5):2057-70. Epub 2003 Jan 26.

16.

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia.

Patel-King RS, Gilberti RM, Hom EF, King SM.

Mol Biol Cell. 2013 Sep;24(17):2668-77. doi: 10.1091/mbc.E13-05-0266. Epub 2013 Jul 17.

17.

Intraflagellar Transport: Mechanisms of Motor Action, Cooperation and Cargo Delivery.

Prevo B, Scholey JM, Peterman EJ.

FEBS J. 2017 Mar 25. doi: 10.1111/febs.14068. [Epub ahead of print] Review.

PMID:
28342295
18.

Retrograde intraflagellar transport by cytoplasmic dynein-2 is required for outer segment extension in vertebrate photoreceptors but not arrestin translocation.

Krock BL, Mills-Henry I, Perkins BD.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5463-71. doi: 10.1167/iovs.09-3828. Epub 2009 May 27.

19.

Measuring rates of intraflagellar transport along Caenorhabditis elegans sensory cilia using fluorescence microscopy.

Brust-Mascher I, Ou G, Scholey JM.

Methods Enzymol. 2013;524:285-304. doi: 10.1016/B978-0-12-397945-2.00016-0.

PMID:
23498746
20.

A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.

Asante D, Maccarthy-Morrogh L, Townley AK, Weiss MA, Katayama K, Palmer KJ, Suzuki H, Westlake CJ, Stephens DJ.

J Cell Sci. 2013 Nov 15;126(Pt 22):5189-97. doi: 10.1242/jcs.131664. Epub 2013 Sep 17.

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