Volume 1 Supplement 1

Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

Meeting abstracts

Edited by Phil L Beales and Hannah M Mitchison

This supplement has not been supported by sponsorship or other external funding.

First International Cilia in Development and Disease Scientific Conference (2012). Go to conference site.

London, UK16-18 May 2012

Concatenated PDF 1S1

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CILIA2012: Cilia in development and disease

Authors: Hannah M Mitchison and Philip L Beales

Citation: Cilia 2012 1(Suppl 1):I1

Content type: Introduction

Published on: 16 November 2012
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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
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Planar cell polarity, cilia, and human disease

Authors: JB Wallingford

Citation: Cilia 2012 1(Suppl 1):K2

Content type: Keynote lecture presentation

Published on: 16 November 2012
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Novel genetic defects in primary ciliary dyskinesia affecting function of dynein arms and central pair apparatus

Authors: H Omran

Citation: Cilia 2012 1(Suppl 1):O1

Content type: Oral presentation

Published on: 16 November 2012
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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
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Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Authors: J-F Papon, LB Bassinet, GCP Cariou-Patron, FZL Zerah-Lancner, AMV Vojtek, SB Blanchon, BC Crestani, SA Amselem, A Coste, BH Housset, EE Escudier and BL Louis

Citation: Cilia 2012 1(Suppl 1):O3

Content type: Oral presentation

Published on: 16 November 2012
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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
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Kidney involvement in Bardet-Biedl syndrome: urinary concentrating defects highlight the major role of primary cilium in water reabsorption

Authors: C de Melo, A Mockel, C Stoetzel, V Marion and H Dollfus

Citation: Cilia 2012 1(Suppl 1):O5

Content type: Oral presentation

Published on: 16 November 2012
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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
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Arl13b regulates early endocytic vesicle trafficking

Authors: DC Barral, S Garg, C Casalou, G Watts, JS Ramalho, VW Hsu and MB Brenner

Citation: Cilia 2012 1(Suppl 1):O7

Content type: Oral presentation

Published on: 16 November 2012
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Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. elegans Inv-like ciliary compartment

Authors: O Blacque, S Cevik, L Clarke, E Van Wijk, A Sanders, J Van Reeuwijk, K Boldt, M Ueffing, R Roepman and H Kremer

Citation: Cilia 2012 1(Suppl 1):O8

Content type: Oral presentation

Published on: 16 November 2012
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The role of intraflagellar transport proteins in ciliary assembly and function

Authors: GJ Pazour

Citation: Cilia 2012 1(Suppl 1):O9

Content type: Oral presentation

Published on: 16 November 2012
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Identification and characterization of the vertebrate motile ciliome

Authors: S Roy, S Choksi, D Babu, X Yu, D Lau, HK Ho, KN Wong, P Panse, L Hao, S Vij and S Chen

Citation: Cilia 2012 1(Suppl 1):O10

Content type: Oral presentation

Published on: 16 November 2012
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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
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Regulation of cilium length and intraflagellar transport by the MAP kinases MAK, MRK, and MOK

Authors: G Jansen and JR Broekhuis

Citation: Cilia 2012 1(Suppl 1):O12

Content type: Oral presentation

Published on: 16 November 2012
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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
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The transcriptional regulation of ciliogenesis in differentiating Drosophila sensory neurons

Authors: A Jarman, FG Newton, PI zur Lage, G Gallone, DJ Moore and K Styczynska

Citation: Cilia 2012 1(Suppl 1):O14

Content type: Oral presentation

Published on: 16 November 2012
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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
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A transition zone complex of ciliopathy proteins regulates ciliary composition

Authors: JF Reiter, F Garcia-Gonzalo, K Corbit, W Dowdle and L Yee

Citation: Cilia 2012 1(Suppl 1):O16

Content type: Oral presentation

Published on: 16 November 2012
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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
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Tau tubulin kinase 2 is required to initiate mammalian ciliogenesis

Authors: S Goetz and KV Anderson

Citation: Cilia 2012 1(Suppl 1):O18

Content type: Oral presentation

Published on: 16 November 2012
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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
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Planar cell polarity orients airway cilia

Authors: E Vladar and JD Axelrod

Citation: Cilia 2012 1(Suppl 1):O20

Content type: Oral presentation

Published on: 16 November 2012
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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
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Investigating the link between PCP signalling and ciliogenesis during zebrafish development

Authors: A Borovina and B Ciruna

Citation: Cilia 2012 1(Suppl 1):O22

Content type: Oral presentation

Published on: 16 November 2012
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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
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IFT and total mutational load

Authors: N Katsanis

Citation: Cilia 2012 1(Suppl 1):O24

Content type: Oral presentation

Published on: 16 November 2012
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Novel links between ciliopathies and FGF-related craniofacial syndromes

Authors: K Liu, JT Tabler, HL Szabo-Rogers, A Mesbahi, C Healy, W Barrell, B Wlodarczyk, JB Wallingford and R Finnell

Citation: Cilia 2012 1(Suppl 1):O25

Content type: Oral presentation

Published on: 16 November 2012
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Loss of basal feet on Odf2 deletion perturbs polarization of basal bodies

Authors: K Kunimoto, YY Yamazaki, TN Nishida, KS Shinohara, HI Ishikawa, TH Hasegawa, TO Okanoue, HH Hamada, TN Noda, AT Tamura and ST Shoichiro Tsukita

Citation: Cilia 2012 1(Suppl 1):O26

Content type: Oral presentation

Published on: 16 November 2012
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Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies

Authors: EM Valente

Citation: Cilia 2012 1(Suppl 1):O27

Content type: Oral presentation

Published on: 16 November 2012
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Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Authors: I Perrault, S Saunier, S Hanein, E Filhol, A Bizet, F Collins, M Salih, E Silva, V Baudouin, M Oud, N Shannon, M Le Merrer, C Pietrement, P Beales, H Arts, A Munnich…

Citation: Cilia 2012 1(Suppl 1):O28

Content type: Oral presentation

Published on: 16 November 2012
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Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish

Authors: R Bachmann-Gagescu, IG Phelps, A Forbes, D Doherty and CB Moens

Citation: Cilia 2012 1(Suppl 1):O29

Content type: Oral presentation

Published on: 16 November 2012
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Combatting renal ciliopathies

Authors: RH Giles

Citation: Cilia 2012 1(Suppl 1):O30

Content type: Oral presentation

Published on: 16 November 2012
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Gene-based treatment options for Usher type 1C by translational read-through of a nonsense mutation

Authors: U Wolfrum, T Goldmann, N Overlack, F Möller, V Belakov, T Baasov and K Nagel-Wolfrum

Citation: Cilia 2012 1(Suppl 1):O31

Content type: Oral presentation

Published on: 16 November 2012
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Trafficking new GPCRs and regulators to primary cilia

Authors: PK Jackson

Citation: Cilia 2012 1(Suppl 1):O32

Content type: Oral presentation

Published on: 16 November 2012
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Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

Authors: D Antony, A Becker-Heck, M Forouhan, M Schmidts, A Onoufriadis, A Shoemark, M Dixon, C Jackson, P Goggin, H Olbrich, C O’Callaghan, J Lucas, C Hogg, EMK Chung, H Omran and HM Mitchison

Citation: Cilia 2012 1(Suppl 1):P1

Content type: Poster presentation

Published on: 16 November 2012
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http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl andother rare syndromes

Authors: T Barrett, A Farmer, S Aymé, P Maffei, S McCafferty, W Mlynarski, V Nunes, V Paquis, K Parkinson, J Rohayem, R Sinnott, V Tillmann and L Tranebjaerg

Citation: Cilia 2012 1(Suppl 1):P2

Content type: Poster presentation

Published on: 16 November 2012
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Longitudinal lung function and structural changes in children with primary ciliary dyskinesia

Authors: S Blanchon, M Lémery Magnin, P Cros, E Escudier, M Mahloul, A Tamalet, A Clement, H Ducou Le Pointe and N Beydon

Citation: Cilia 2012 1(Suppl 1):P3

Content type: Poster presentation

Published on: 16 November 2012
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Diagnostic of Primary Ciliary Dyskinesia: guidelines to obtain appropriate ciliate cell samples

Authors: S Blanchon, L Bassinet, A Clément, A Coste, E Escudier and C Thumerelle

Citation: Cilia 2012 1(Suppl 1):P4

Content type: Poster presentation

Published on: 16 November 2012
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Diagnostic algorithm for Primary Ciliary Dyskinesia: recommendations of the French National Centre for Rare Respiratory Diseases

Authors: S Blanchon, L Bassinet, N Beydon, A Clément, E Escudier, JF Papon and A Tamalet

Citation: Cilia 2012 1(Suppl 1):P5

Content type: Poster presentation

Published on: 16 November 2012
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Development of a health related quality of life questionnaire for adult patients with Primary Ciliary Dyskinesia

Authors: JS Lucas, NJ Botting, A DunnGalvin and F Copeland

Citation: Cilia 2012 1(Suppl 1):P6

Content type: Poster presentation

Published on: 16 November 2012
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Nasal nitric oxide is useful in an Australian Primary Ciliary Dyskinesia clinic

Authors: L Morgan, LJ Buddle, PG Rogers, LM Seccombe, KA MacKenney and LJ Hughes

Citation: Cilia 2012 1(Suppl 1):P7

Content type: Poster presentation

Published on: 16 November 2012
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Heterogeneity and causation of organ dysfunction in Alström syndrome

Authors: R Paisey, C Carey, R Seymour, K Williams, C Rockett, K Vogler, S Bunce, A White, T Hiwot, R Cramb and M Waterson

Citation: Cilia 2012 1(Suppl 1):P8

Content type: Poster presentation

Published on: 16 November 2012
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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
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Bronchial and alveolar airway nitric oxide levels in primary ciliary dyskinesia and other respiratory diseases

Authors: W Walker, A Liew, A Harris and JS Lucas

Citation: Cilia 2012 1(Suppl 1):P10

Content type: Poster presentation

Published on: 16 November 2012
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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
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SysWiz database and software tool providing an insight into mechanism of action of molecules associated with ciliopathies

Authors: G Apic

Citation: Cilia 2012 1(Suppl 1):P12

Content type: Poster presentation

Published on: 16 November 2012
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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
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Direct binding of Magi2 to the USH1G protein SANS links the periciliary USH protein network to endocytosis

Authors: K Bauss, A Klinger, V Etz, T Maerker, E van Wijk, Rachel Roepman, H Kremer and U Wolfrum

Citation: Cilia 2012 1(Suppl 1):P14

Content type: Poster presentation

Published on: 16 November 2012
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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
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Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

Meeting abstracts

Cilia

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