Publications by authors named "Christelle Arrondel"

22Publications

C-terminal oligomerization of podocin mediates interallelic interactions.

Biochim Biophys Acta Mol Basis Dis 2018 Jul 13;1864(7):2448-2457. Epub 2018 Apr 13.

MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary; Semmelweis University, Ist Department of Pediatrics, Budapest, Hungary; Laboratory of Hereditary Kidney Diseases, INSERM, UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.04.008DOI Listing
July 2018

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

J Biol Chem 2018 03 30;293(11):4122-4133. Epub 2018 Jan 30.

From the Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Paris 75015, France,

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http://dx.doi.org/10.1074/jbc.RA117.001159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858002PMC
March 2018

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

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

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Nat Genet 2014 Mar 9;46(3):299-304. Epub 2014 Feb 9.

1] Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Laboratory of Hereditary Kidney Diseases, Paris, France. [2] Paris Descartes University-Sorbonne Paris Cité, Imagine Institute, Paris, France. [3] Assistance Publique-Hôpitaux de Paris, Department of Genetics, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1038/ng.2898DOI Listing
March 2014

Fetal renin-angiotensin-system blockade syndrome: renal lesions.

Pediatr Nephrol 2014 Jul 30;29(7):1221-30. Epub 2014 Jan 30.

CHU de Poitiers Service d'Anatomie et Cytologie Pathologiques, CHU Poitiers, BP 577, 86021, Poitiers, France,

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http://dx.doi.org/10.1007/s00467-013-2749-4DOI Listing
July 2014

Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.

Nephrol Dial Transplant 2002 Jan;17(1):70-4

Department of General and Visceral Surgery, Friedrich-Schiller-University Jena, Bachstrasse 18, D-07740 Jena, Germany.

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http://dx.doi.org/10.1093/ndt/17.1.70DOI Listing
January 2002

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

J Am Soc Nephrol 2002 Jan;13(1):65-74

Inserm U 423, Université René Descartes, Hôpital Necker-Enfants Malades, Paris, France.

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January 2002