Publications by authors named "Sophie Saunier"

66Publications

Diagnosis support systems for rare diseases: a scoping review.

Orphanet J Rare Dis 2020 04 16;15(1):94. Epub 2020 Apr 16.

Centre de Recherche des Cordeliers, INSERM, Université de Paris, Sorbonne Université, F-75006, Paris, France.

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http://dx.doi.org/10.1186/s13023-020-01374-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164220PMC
April 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Proc Natl Acad Sci U S A 2020 01 26;117(2):1113-1118. Epub 2019 Dec 26.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1912602117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969532PMC
January 2020

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

J Biomed Inform 2019 12 14;100:103308. Epub 2019 Oct 14.

INSERM UMR1138, Centre de Recherche des Cordeliers, Team 22, Paris, France; Department of Medical Informatics, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jbi.2019.103308DOI Listing
December 2019

Targeted exon skipping of a mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.

Proc Natl Acad Sci U S A 2018 12 16;115(49):12489-12494. Epub 2018 Nov 16.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1809432115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298104PMC
December 2018

KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.

Nat Commun 2017 01 30;8:14177. Epub 2017 Jan 30.

Department of Biology, Section of Cell Biology and Physiology, The August Krogh Building, University of Copenhagen, Universitetsparken 13, Copenhagen OE DK-2100, Denmark.

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http://dx.doi.org/10.1038/ncomms14177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290278PMC
January 2017

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

J Am Soc Nephrol 2014 Nov 29;25(11):2435-43. Epub 2014 May 29.

INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France;

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http://www.jasn.org/cgi/doi/10.1681/ASN.2013101126
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http://dx.doi.org/10.1681/ASN.2013101126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214529PMC
November 2014

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.

J Cell Biol 2012 Sep 27;198(5):927-40. Epub 2012 Aug 27.

Centre National de la Recherche Scientifique UMR 7622, Institut National de la Santé et de la Recherche Médicale U969, 75005 Paris, France.

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http://dx.doi.org/10.1083/jcb.201111009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432770PMC
September 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.

Hum Mol Genet 2011 Jul 15;20(13):2611-27. Epub 2011 Apr 15.

INSERM U983, Tour Lavoisier, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddr164DOI Listing
July 2011

Nephronophthisis.

Pediatr Nephrol 2009 Dec 8;24(12):2333-44. Epub 2008 Jul 8.

Pediatric Nephrology, Centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1007/s00467-008-0840-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134PMC
December 2009

Nephronophthisis.

Curr Opin Genet Dev 2005 Jun;15(3):324-31

Inserm U574 and Department of Genetics, Paris 5 University, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.gde.2005.04.012DOI Listing
June 2005

Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.

Proteins 2005 May;59(2):347-55

Laboratoire de Cristallographie et RMN Biologiques, UMR8015 CNRS, Faculté de Pharmacie, Université Paris 5, Paris, France.

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http://dx.doi.org/10.1002/prot.20344DOI Listing
May 2005

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

Hum Mol Genet 2005 Mar 20;14(5):645-56. Epub 2005 Jan 20.

INserm U574, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi061DOI Listing
March 2005

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Nat Genet 2002 Oct 9;32(2):300-5. Epub 2002 Sep 9.

Inserm U423, Tour Lavoisier, Hôpital Necker-Enfants Malades, Université Paris 5, Paris, France.

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http://dx.doi.org/10.1038/ng996DOI Listing
October 2002