Publications by authors named "Flora Silbermann"

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The renal inflammatory network of nephronophthisis.
Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard, Esther Porée, Flora Silbermann

Hum Mol Genet· July 2022

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Agonists of prostaglandin E receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Hugo Garcia, Alice S Serafin, Flora Silbermann, Esther Porée, Amandine Viau

Proc Natl Acad Sci U S A· May 2022

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Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Simon A Ramsbottom, Peter E Thelwall, Katrina M Wood, Gavin J Clowry, Laura A Devlin, Flora Silbermann

Proc Natl Acad Sci U S A· January 2020

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel

Am J Hum Genet· November 2017

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Flora Silbermann

Am J Hum Genet· February 2017

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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Flora Silbermann

Am J Hum Genet· February 2017

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Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Flora Silbermann

PLoS Genet· March 2016

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A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Evelyne Huynh Cong, Albane A Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Flora Silbermann

J Am Soc Nephrol· November 2014

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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate

Am J Hum Genet· February 2014

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Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
Alexia Mahuzier, Helori-Mael Gaudé, Valentina Grampa, Isabelle Anselme, Flora Silbermann

J Cell Biol· September 2012

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Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Céline Burcklé, Helori-Mael Gaudé, Christine Vesque, Flora Silbermann, Rémi Salomon

Hum Mol Genet· July 2011

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The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia.
Anahi Molla-Herman, Rania Ghossoub, Thierry Blisnick, Alice Meunier, Catherine Serres, Flora Silbermann

J Cell Sci· May 2010

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Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
Marion Delous, Nathan E Hellman, Helori-Maël Gaudé, Flora Silbermann, André Le Bivic

Hum Mol Genet· December 2009

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Flora Silbermann

Nat Genet· July 2007

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Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Géraldine Mollet, Flora Silbermann, Marion Delous, Rémi Salomon, Corinne Antignac

Hum Mol Genet· March 2005

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The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Géraldine Mollet, Rémi Salomon, Olivier Gribouval, Flora Silbermann, Delphine Bacq

Nat Genet· October 2002

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