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Towards gene therapy for primary ciliary dyskinesia

Authors: M Munye, RA Hirst, C O'Callaghan, SJ Howe and SL Hart

Citation: Cilia 2012 1(Suppl 1):P109

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Bardet-Biedl and Alström syndromes in Spain

Authors: D Valverde, T Piñeiro-Gallego and I Pereiro

Citation: Cilia 2012 1(Suppl 1):P107

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Authors: P Taylor, S Wu, SF Nelson, DH Cohn and D Krakow

Citation: Cilia 2012 1(Suppl 1):P105

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!

Authors: RJ Simms, M Hynes and JA Sayer

Citation: Cilia 2012 1(Suppl 1):P103

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Mutations in the dynein assembly factor PF22 (DNAAF3) cause primary ciliary dyskinesia with absent dynein arms

Authors: M Schmidts, J Freshour, NT Loges, A Dritsoula, D Antony, RA Hirst, C O’Callaghan, H Blau, H Olbrich, T Yagi, H Mussaffi, EMK Chung, H Omran, DR Mitchell and H Mitchison

Citation: Cilia 2012 1(Suppl 1):P101

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Authors: S Saunier, AA Bizet, F Silbermann, E Filhol, T Blisnick, A Henneveu, E Montenont, I Perrault, C Boyle-Feysot, J-M Rozet, P Bastin, HH Arts, C Antignac and AR Benmerah

Citation: Cilia 2012 1(Suppl 1):P99

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Primary cilia defects in the polycystic kidneys from an ovine model of Meckel Gruber syndrome

Authors: T Poole, C Stayner, SR McGlashan, K Parker, A Wiles, M Jennings, CG Jensen, AC Johnstone, RJ Walker and MR Eccles

Citation: Cilia 2012 1(Suppl 1):P97

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Cellular abnormalities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) fibroblasts

Authors: S Moyes, J Norman and PD Wilson

Citation: Cilia 2012 1(Suppl 1):P95

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia

Authors: DA Mans, KLM Coene, K Boldt, IJC Lamers, J van Reeuwijk, NT Loges, E Bolat, L Franke, L Hetterschijt, SJF Letteboer, TA Peters, H Omran, FPM Cremers, M Ueffing and R Roepman

Citation: Cilia 2012 1(Suppl 1):P93

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Authors: M Legendre, S Blanchon, B Copin, P Duquesnoy, G Montantin, E Kott, F Dastot, L Jeanson, M Cachanado, A Rousseau, JF Papon, A Tamalet, AM Vojtek, D Escalier, A Coste, J de Blic…

Citation: Cilia 2012 1(Suppl 1):P91

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Characterising a novel mouse model with a mutated ciliopathy gene (Cep290) leading to Joubert Syndrome

Authors: AM Hynes, CA Miller, L Eley, RJ Simms, K White, C Miles and JA Sayer

Citation: Cilia 2012 1(Suppl 1):P89

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

Authors: V Hernandez, BG Coon, K Madhivanan, D Mukherjee, CB Hanna, I Barinaga-Rementeria Ramirez, M Lowe, PL Beales and RC Aguilar

Citation: Cilia 2012 1(Suppl 1):P87

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Defects in gut and enteric nervous system development in Talpid3 mutant chicken

Authors: JM Delalande, AM Campbell, N Thapar and AJ Burns

Citation: Cilia 2012 1(Suppl 1):P85

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Authors: K Boldt, DA Mans, J Won, J van Reeuwijk, Y Texier, PM Nishina, R Roepman and M Ueffing

Citation: Cilia 2012 1(Suppl 1):P83

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Screening ciliopathy genes in the model organism Trypanosoma brucei

Authors: S Barry, K Towers and S Vaughan

Citation: Cilia 2012 1(Suppl 1):P81

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Functional analysis of the transition zone protein Rpgrip1l during zebrafish development

Authors: C Vesque, A Mahuzier, I Anselme, M Leroux-Berger and SJ Schneider-Maunoury

Citation: Cilia 2012 1(Suppl 1):P79

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells

Authors: S Romani, B Illi, R De Mori, JG Gleeson and EM Valente

Citation: Cilia 2012 1(Suppl 1):P77

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The role of primary cilia in mouse adrenal and zebrafish interrenal development

Authors: K Cogger, L Guasti, R Ashworth, C Brennan, P Beales, V Marion and P King

Citation: Cilia 2012 1(Suppl 1):P64

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The functional relationships between BBS and MKS and their role in regulating trafficking of proteins in the primary cilium

Authors: F Bangs, S Goetz and KV Anderson

Citation: Cilia 2012 1(Suppl 1):P62

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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A role for IFT88/the primary cilium in the inflammatory response to interleukin-1

Authors: AKT Wann and MM Knight

Citation: Cilia 2012 1(Suppl 1):P60

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Scrutinizing ciliopathies by unravelling the ciliary interactome

Authors: J van Reeuwijk, K Boldt, DA Mans, Y Texier, SE van Beersum, SJ Letteboer, MTT Nguyen, M Ueffing and R Roepman

Citation: Cilia 2012 1(Suppl 1):P58

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Origin and extension of the IFT complex in early eukaryotic evolution

Authors: J van Dam, MC Field and M Huynen

Citation: Cilia 2012 1(Suppl 1):P56

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Three dimensional organisation of basal bodies in Trypanosoma brucei

Authors: K Towers, LC Hughes and S Vaughan

Citation: Cilia 2012 1(Suppl 1):P54

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Heat-shock induces rapid resorption of primary cilia

Authors: CL Thompson, NV Prodromou, DP Osborn, R Ashworth, MM Knight, PL Beales and JP Chapple

Citation: Cilia 2012 1(Suppl 1):P52

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Investigation of a new signalling pathway linking deltaD to ciliogenesis - the role of rabconnectin3

Authors: B Tavares, A Vaz, P Pintado and SS Lopes

Citation: Cilia 2012 1(Suppl 1):P50

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells

Authors: N Sorusch, K Bauß, N Overlack, A Kunz, E van Wijk, T Maerker, R Roepman, H Kremer and U Wolfrum

Citation: Cilia 2012 1(Suppl 1):P48

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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A three-step process of Nphp3 ciliary localization

Authors: D Shiba, K Nakata, H Fukui, D Kobayashi and T Yokoyama

Citation: Cilia 2012 1(Suppl 1):P46

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Identification and characterization of two novel centriolar appendage component proteins

Authors: JM Schrøder, M Rogowski, L Jakobsen, K Vanselow, S Geimer, LB Pedersen and JS Andersen

Citation: Cilia 2012 1(Suppl 1):P44

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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A role for primary cilia in glutamatergic synaptic integration of adult-born neurons

Authors: N Kumamoto, Y Gu, J Wang, S Jenoschka, K Takemaru, J Levine and S Ge

Citation: Cilia 2012 1(Suppl 1):P31

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Mechanical behavior of primary cilia

Authors: CR Jacobs, ME Downs, AM Nguyen, FA Herzog and DA Hoey

Citation: Cilia 2012 1(Suppl 1):P27

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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In vivo three-dimensional structural analysis of cilia by cryo-electron tomography

Authors: T Ishikawa, KH Bui, T Movassagh, G Pigino and A Maheshwari

Citation: Cilia 2012 1(Suppl 1):P25

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Transforming growth factor beta (TGFβ) signaling is regulated at the pocket region of primary cilia

Authors: S Christensen, CA Clement, SK Brorsen, KD Ajbro, M de Jesus, LB Pedersen and LA Larsen

Citation: Cilia 2012 1(Suppl 1):O23

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)

Authors: R Hjeij, NT Loges, A Becker-Heck and H Omran

Citation: Cilia 2012 1(Suppl 1):P23

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity

Authors: S Schneider-Maunoury, A Mahuzier, HM Gaudé, I Anselme, F Silbermann, M Leroux-Berger, M Montcouquiol, S Saunier and C Vesque

Citation: Cilia 2012 1(Suppl 1):O21

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Variation of medium osmolalities induces changes in cilia related signalling pathways in primary cultured renal inner medullary collecting duct cells

Authors: B Edemir, M Jardzejewski and E Schlatter

Citation: Cilia 2012 1(Suppl 1):P21

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Genetic analysis of cilia and centrosome function in the development of the mouse embryo

Authors: KV Anderson and B Bazzi

Citation: Cilia 2012 1(Suppl 1):O19

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The molecular mechanisms of calcium signalling in Chlamydomonas flagella

Authors: PW Collingridge, G Wheeler and C Brownlee

Citation: Cilia 2012 1(Suppl 1):P19

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Loss of outer arm dynein components produce specific and separable phenotypes in zebrafish

Authors: R Burdine and CE Slagle

Citation: Cilia 2012 1(Suppl 1):O17

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Tubulin posttranslational modifications as regulators of microtubule-based functions in cells

Authors: M Bosch-Grau, C Rochas, A Meunier, N Spassky and C Janke

Citation: Cilia 2012 1(Suppl 1):P17

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Building the primary cilium membrane

Authors: CJ Westlake, J Rahajeng, Q Lu, RH Scheller, S Caplan and PK Jackson

Citation: Cilia 2012 1(Suppl 1):O15

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Analysis of the molecular networks involved in primary cilium formation

Authors: R Bonavita, A Luini, A Luini and A Colanzi

Citation: Cilia 2012 1(Suppl 1):P15

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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NPHP and MKS proteins and the ciliary transition zone

Authors: BK Yoder

Citation: Cilia 2012 1(Suppl 1):O13

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Sub-localisation of novel proteins with unique dynamics during assembly and maintenance of the eukaryotic flagellum

Authors: P Bastin, D Julkowska, I Subota, L Vincensini, T Blisnick, J Buisson, S Perrot, N Reeg and M Engstler

Citation: Cilia 2012 1(Suppl 1):P13

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Analysis of intraflagellar transport in the zebrafish model

Authors: C Zhao, Y Omori, K Brodowska, P Kovach and J Malicki

Citation: Cilia 2012 1(Suppl 1):O11

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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The evolution of ciliary signaling mechanisms

Authors: M Abedin and JFR Reiter

Citation: Cilia 2012 1(Suppl 1):P11

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Nasal exhaled nitric oxide measurements on British Asian children with confirmed Primary Ciliary Dyskinesia

Authors: E Turner, M Balain, EF Moya and P Dawson

Citation: Cilia 2012 1(Suppl 1):P9

Content type: Poster presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Rab23 is required for cardiac progenitor cell differentiation and positively-regulates Wnt11/AP-1 signalling in zebrafish

Authors: D Jenkins, PL Beales and AOM Wilkie

Citation: Cilia 2012 1(Suppl 1):O6

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Authors: V Cormier-Daire, C Huber, J Baujat, R Caumes, H Kayirangwa, M Le Merrer, KH Le Quan Sang and A Munnich

Citation: Cilia 2012 1(Suppl 1):O4

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Exome resequencing identifies novel NPHP genes, implicating DNA damage response signaling in the pathogenesis of ciliopathies

Authors: F Hildebrandt

Citation: Cilia 2012 1(Suppl 1):O2

Content type: Oral presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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Translational benefits to patients in the post-genomic era

Authors: JG Gleeson

Citation: Cilia 2012 1(Suppl 1):K1

Content type: Keynote lecture presentation Published on: 16 November 2012

This article is part of a Supplement: Volume 1 Supplement 1
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