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

Page 3 of 3

CYLD tumour supressor regulates ciligenesis

Authors: T Eguether, BM Bonnet, EM Ermolaeva, PM Pasparakis, CG Courtois and TAM Tassin

Citation: Cilia 2012 1(Suppl 1):P66

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
PI3K class II α: a novel regulator of vesicular trafficking at the base of the primary cilium

Authors: I Franco, F Gulluni, C Costa, JP Margaria, CC Campa, E De Luca, D Monteyne, D Pérez-Morga, A Boletta, A Ranghino, GR Merlo and E Hirsch

Citation: Cilia 2012 1(Suppl 1):P67

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Pkd1l1 as a molecular sensor of fluid flow during the breaking of left-right symmetry

Authors: DT Grimes, KL Riley, S Field, SH Patel, J Keynton, H Hilton, A Greenfield and DP Norris

Citation: Cilia 2012 1(Suppl 1):P68

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Identifying the molecular function of Tulp3 in neural tube closure and patterning

Authors: K Hakim-Rad, V Patterson, A Paudyal and J Murdoch

Citation: Cilia 2012 1(Suppl 1):P69

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Vascular endothelial primary cilia regulate blood flow-induced EndoMT

Authors: B Hierck, AD Egorova and RE Poelmann

Citation: Cilia 2012 1(Suppl 1):P70

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Arl3 regulates a transport system for farnesylated cargo

Authors: S Ismail, YC Chen, AR Rusinnova, AC Chandra, MB Bierbaum, LG Gremer, GT Triola, HW Waldmann, PB Batiaens and AW Winttinghofer

Citation: Cilia 2012 1(Suppl 1):P71

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Body axis elongation and ciliary function in zebrafish require Noni a novel ciliary protein

Authors: J Jerber, CB Chhin, SF Soulavie, BD Baas, VC Vesque, DB Durand and TJ Thomas

Citation: Cilia 2012 1(Suppl 1):P72

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
Telencephalic morphogenesis is impaired in Ftm/Rpgrip1l KO mice

Authors: C Laclef, M Catala, I Anselme, L Besse and S Schneider-Maunoury

Citation: Cilia 2012 1(Suppl 1):P73

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
A novel 9 kDa phosphoprotein is a component of the primary cilium and interacts with polycystin-1

Authors: DPS Osborn, C Boucher, P Wilson, V Gattone, PL Beales, I Drummond and R Sandford

Citation: Cilia 2012 1(Suppl 1):P74

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
A novel role for the obesity-associated gene FTO in ciliogenesis and Wnt signalling

Authors: DPS Osborn, S Mukherjee, RM Roccasecca, I Barosso, D Stemple, PL Beales and S Christou-Savina

Citation: Cilia 2012 1(Suppl 1):P75

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
A central role for Galectin 3 during renal epithelial cell morphogenesis after nephrectomy

Authors: F Poirier, A Viau, J Magescas, M Burtin, F Terzi and D Delacour

Citation: Cilia 2012 1(Suppl 1):P76

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
The role of cilia and ciliary motility in otolith formation in the zebrafish embryo

Authors: G Stooke-Vaughan, P Huang, KL Hammond, AF Schier and TT Whitfield

Citation: Cilia 2012 1(Suppl 1):P78

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

Authors: H Arts, M Schmidts, EMHF Bongers, MM Oud, LEM Duijkers, Z Yap, J Stalker, JL Yntema, A Hoischen, C Gilissen, JA Veltman, A Kutkowska-Kaźmierczak, EJ Kamsteeg, PJ Scambler, PL Beales, NVAM Knoers…

Citation: Cilia 2012 1(Suppl 1):P80

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
3D renal modeling classifies BHD as a ciliopathy, possibly responsive to treatment with PTC124

Authors: S Basten, K Haidari, G Slaats, M Steensel van and R Giles

Citation: Cilia 2012 1(Suppl 1):P82

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
In vivo function of galectin-3 in motile cilia of airway epithelium

Authors: D Delacour, T Piolot, E Pichard, V Contremoulins, T Dang and F Poirier

Citation: Cilia 2012 1(Suppl 1):P84

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Increased insulin resistance compounded by reduced insulin sensitivity drives the "Fat Aussie" (Alms1foz/foz) model of Alström syndrome towards obesity and type 2 diabetes mellitus

Authors: D Girard and N Petrovsky

Citation: Cilia 2012 1(Suppl 1):P86

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation

Authors: V Hernandez, P Pravincumar, A Diaz-Font, H May-Simera, D Jenkins, M Knight and PL Beales

Citation: Cilia 2012 1(Suppl 1):P88

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Severe ciliopathy-related phenotypes in mice with dysregulation of tubulin polyglutamylation

Authors: K Ikegami, A Konno, S Hattori, C Matsuda and M Setou

Citation: Cilia 2012 1(Suppl 1):P90

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
CG31320 (Heatr2) - ciliopathy candidate gene, functional analysis in fly and mouse models

Authors: G Mali, P Mill, PI zur Lage, EA Hall, AP Jarman and IJ Jackson

Citation: Cilia 2012 1(Suppl 1):P92

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Reciprocal rescue of sensory cell cilia defects by Cep290 and Mkks alleles

Authors: H May-Simera, R Rachel, B Choi, T Li, T Friedman, A Swaroop and M Kelley

Citation: Cilia 2012 1(Suppl 1):P94

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Photoreceptor degeneration caused by defects of a ciliary kinase

Authors: Y Omori, T Chaya and T Furukawa

Citation: Cilia 2012 1(Suppl 1):P96

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
CEP290 is required for photoreceptor ciliogenesis and other cilia related functions

Authors: RA Rachel, EA Yamamoto, M Dewanjee, J Munasinghe, HL May-Simera, L Dong and A Swaroop

Citation: Cilia 2012 1(Suppl 1):P98

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Authors: S Saunier, HM Gaudé, R Montjean, F Silbermann, V Grampa, C Burcklé, E Montenont, M Delous, C Vesque, C Jeanpierre, C Antignac, F Terzi and S Schneider-Maunoury

Citation: Cilia 2012 1(Suppl 1):P100

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells

Authors: RK Semple, J-H Chen, RB Paisey, TG Barrett and M Hales

Citation: Cilia 2012 1(Suppl 1):P102

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Targeted testing for DNAI1 hot spot-mutation utilizing immunofluorescence microscopy findings

Authors: M Szczepaniak, NT Loges, H Olbrich, M Witt and H Omran

Citation: Cilia 2012 1(Suppl 1):P104

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Forebrain development in the Inpp5e ciliary mouse mutant is severely disrupted

Authors: T Theil, K Hasenpusch-Theil, D Magnani, S Gayral and S Schurmans

Citation: Cilia 2012 1(Suppl 1):P106

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways

Authors: G Wheway, Z Abdelhamed, S Natarajan and CA Johnson

Citation: Cilia 2012 1(Suppl 1):P108

Content type: Poster presentation

Published on: 16 November 2012
- View Full Text
- View PDF
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
- View Full Text
- View PDF
Arl13b influences cilia length in the zebrafish Kupffer’s vesicle

Authors: P Pintado, D Barral and SS Lopes

Citation: Cilia 2013 1(Suppl 1):P110

Content type: Poster presentation

Published on: 26 April 2013
- View Full Text
- View PDF

You are viewing the site in preview mode

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

Meeting abstracts

Cilia

Contact us