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Dishevelled stablisation at the cilium by RPGRIP1L is essential for planar cell polarity
Sylvie Schneider-Maunoury
,
Alexia Mahuzier
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Hélori-Mael Gaudé
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Isabelle Anselme
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Flora Silbermann
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et al.
First International Cilia in Development and Disease Scientific Conference, pp.O21
Conference papers
inserm-00752956v1
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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Maxence Macia
,
Jan Halbritter
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Marion Delous
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Cecilie Bredrup
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Arthur Gutter
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et al.
Journal articles
hal-03843928v1
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Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases
Sophie Saunier
,
Hélori-Mael Gaudé
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Rodrick Montjean
,
Flora Silbermann
,
Valentina Grampa
,
et al.
First International Cilia in Development and Disease Scientific Conference, pp.P100
Conference papers
inserm-00752963v1
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Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis
Sophie Saunier
,
Albane A. Bizet
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Flora Silbermann
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Emilie Filhol
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Thierry Blisnick
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et al.
First International Cilia in Development and Disease Scientific Conference, May 2012, London, United Kingdom. pp.P99, ⟨10.1186/2046-2530-1-S1-P99⟩
Conference papers
inserm-00752970v1
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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation
Valentina Grampa
,
Marion Delous
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Mohamad Zaidan
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Gweltas Odye
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Sophie Thomas
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et al.
Journal articles
hal-03843941v1
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Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Simon Ramsbottom
,
Peter Thelwall
,
Katrina Wood
,
Gavin Clowry
,
Laura Devlin
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et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (2), pp.1113-1118. ⟨10.1073/pnas.1912602117⟩
Journal articles
hal-03932210v1
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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
Camille Humbert
,
Flora Silbermann
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Bharti Morar
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Mélanie Parisot
,
Mohammed Zarhrate
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et al.
Journal articles
hal-03843981v1
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The renal inflammatory network of nephronophthisis
Marceau Quatredeniers
,
Frank Bienaimé
,
Giulia Ferri
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Pierre Isnard
,
Esther Porée
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et al.
Journal articles
hal-03933124v1
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