Works by Antignac, Corinne

Results: 109

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.

Published in:

Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 83, doi. 10.1111/j.1749-6632.2010.05817.x

By:

Benoit, Geneviève;
Machuca, Eduardo;
Heidet, Laurence;
Antignac, Corinne

Publication type:

Article

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

Published in:

Pediatric & Developmental Pathology, 1998, v. 1, n. 6, p. 543, doi. 10.1007/s100249900075

By:

Thorner, Paul;
Heidet, Laurence;
Moreno Merlo, Fernando;
Edwards, Vern;
Antignac, Corinne;
Gubler, Marie-Claire

Publication type:

Article

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

Published in:

Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 239, doi. 10.1093/ndt/gfab218

By:

Knoers, Nine;
Antignac, Corinne;
Bergmann, Carsten;
Dahan, Karin;
Giglio, Sabrina;
Heidet, Laurence;
Lipska-Ziętkiewicz, Beata S;
Noris, Marina;
Remuzzi, Giuseppe;
Vargas-Poussou, Rosa;
Schaefer, Franz

Publication type:

Article

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.

Published in:

Nephrology Dialysis Transplantation, 2019, v. 34, n. 11, p. 1885, doi. 10.1093/ndt/gfy176

By:

Gribouval, Olivier;
Boyer, Olivia;
Knebelmann, Bertrand;
Karras, Alexandre;
Dantal, Jacques;
Fourrage, Cécile;
Alibeu, Olivier;
Hogan, Julien;
Dossier, Claire;
Tête, Marie Josèphe;
Antignac, Corinne;
Servais, Aude

Publication type:

Article

Nephropathic cystinosis: an international consensus document.

Published in:

Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090

By:

Emma, Francesco;
Nesterova, Galina;
Langman, Craig;
Labbé, Antoine;
Cherqui, Stephanie;
Goodyer, Paul;
Janssen, Mirian C.;
Greco, Marcella;
Topaloglu, Rezan;
Elenberg, Ewa;
Dohil, Ranjan;
Trauner, Doris;
Antignac, Corinne;
Cochat, Pierre;
Kaskel, Frederick;
Servais, Aude;
Wühl, Elke;
Niaudet, Patrick;
Van't Hoff, William;
Gahl, William

Publication type:

Article

The ERA-EDTA Working Group on inherited kidney disorders.

Published in:

Nephrology Dialysis Transplantation, 2012, v. 27, n. 1, p. 67, doi. 10.1093/ndt/gfr764

By:

Devuyst, Olivier;
Antignac, Corinne;
Bindels, René J.M.;
Chauveau, Dominique;
Emma, Francesco;
Gansevoort, Ron;
Maxwell, Patrick H.;
Ong, Albert C.M.;
Remuzzi, Giuseppe;
Ronco, Pierre;
Schaefer, Franz

Publication type:

Article

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).

Published in:

Nephrology Dialysis Transplantation, 2011, v. 26, n. 12, p. 3843

By:

Renkema, Kirsten Y.;
Winyard, Paul J.;
Skovorodkin, Ilya N.;
Levtchenko, Elena;
Hindryckx, An;
Jeanpierre, Cécile;
Weber, Stefanie;
Salomon, Rémi;
Antignac, Corinne;
Vainio, Seppo;
Schedl, Andreas;
Schaefer, Franz;
Knoers, Nine V.A.M.;
Bongers, Ernie M.H.F.

Publication type:

Article

Cell therapy for cystinosis*.

Published in:

Nephrology Dialysis Transplantation, 2010, v. 25, n. 7, p. 2103, doi. 10.1093/ndt/gfq198

By:

Terryn, Sara;
Devuyst, Olivier;
Antignac, Corinne

Publication type:

Article

Renal phenotype of the cystinosis mouse model is dependent upon genetic background.

Published in:

Nephrology Dialysis Transplantation, 2010, v. 25, n. 4, p. 1059, doi. 10.1093/ndt/gfp553

By:

Nevo, Nathalie;
Chol, Marie;
Bailleux, Anne;
Kalatzis, Vasiliki;
Morisset, Ludivine;
Devuyst, Olivier;
Gubler, Marie-Claire;
Antignac, Corinne

Publication type:

Article

EUNEFRON, the European Network for the Study of Orphan Nephropathies.

Published in:

Nephrology Dialysis Transplantation, 2009, v. 24, n. 7, p. 2011, doi. 10.1093/ndt/gfp095

By:

Devuyst, Olivier;
Meij, Iwan;
Jeunemaitre, Xavier;
Ronco, Pierre;
Antignac, Corinne;
Christensen, Erik I.;
Knoers, Nina V.;
Levtchenko, Elena N.;
Deen, Peter M.;
Müller, Dominik;
Wagner, Carsten A.;
Rampoldi, Luca;
Van't Hoff, William G.

Publication type:

Article

Stem cell therapy for Alport syndrome: the hope beyond the hype.

Published in:

Nephrology Dialysis Transplantation, 2009, v. 24, n. 3, p. 731

By:

Oliver Gross;
Dorin-Bogdan Borza;
Hans-Joachim Anders;
Christoph Licht;
Manfred Weber;
Stephan Segerer;
Roser Torra;
Marie-Claire Gubler;
Laurence Heidet;
Scott Harvey;
Dominic Cosgrove;
George Lees;
Clifford Kashtan;
Martin Gregory;
Judy Savige;
Jie Ding;
Paul Thorner;
Dale R. Abrahamson;
Corinne Antignac;
Karl Tryggvason

Publication type:

Article

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).

Published in:

Nephrology Dialysis Transplantation, 2008, v. 23, n. 4, p. 1291

By:

Rasheed Gbadegesin;
Bernward G. Hinkes;
Bethan E. Hoskins;
Christopher N. Vlangos;
Saskia F. Heeringa;
Jinhong Liu;
Chantal Loirat;
Fatih Ozaltin;
Seema Hashmi;
Francis Ulmer;
Roxanna Cleper;
Robert Ettenger;
Corinne Antignac;
Roger C. Wiggins;
Martin Zenker;
Friedhelm Hildebrandt

Publication type:

Article

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Published in:

Nephrology Dialysis Transplantation, 2006, v. 21, n. 9, p. 2660

By:

Guillaume Bollée;
Fadi Fakhouri;
Alexandre Karras;
Laure-Hélène Noël;
Rémi Salomon;
Aude Servais;
Philippe Lesavre;
Vincent Morinière;
Corinne Antignac;
Aurélie Hummel

Publication type:

Article

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Published in:

Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 6, p. 809, doi. 10.1515/cclm-2016-0819

By:

Jávorszky, Eszter;
Morinière, Vincent;
Kerti, Andrea;
Balogh, Eszter;
Pikó, Henriett;
Saunier, Sophie;
Karcagi, Veronika;
Antignac, Corinne;
Tory, Kálmán

Publication type:

Article

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 693, doi. 10.1111/cge.14305

By:

Dirix, Marie;
Gribouval, Olivier;
Arrondel, Christelle;
Benjelloun, Saadia;
Boyer, Olivia;
Charbit, Marina;
Antignac, Corinne;
Heidet, Laurence;
Dorval, Guillaume

Publication type:

Article

Clinical utility gene card for: Cystinosis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.204

By:

Levtchenko, Elena;
van den Heuvel, Lambertus;
Emma, Francesco;
Antignac, Corinne

Publication type:

Article

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13

By:

Lebre, Anne-Sophie;
Morinière, Vincent;
Dunand, Olivier;
Bensman, Albert;
Morichon-Delvallez, Nicole;
Antignac, Corinne

Publication type:

Article

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539

By:

Amiel, Jeanne;
Audollent, Sophie;
Joly, Dominique;
Dureau, Pascal;
Salomon, Rémi;
Tellier, Anne-Lorraine;
Augé, Joelle;
Bouissou, François;
Antignac, Corinne;
Gubler, Marie-Claire;
Eccles, Michel R;
Munnich, Arnold;
Vekemans, Michel;
Lyonnet, Stanislas;
Attié-Bitach, Tania

Publication type:

Article

Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.

Published in:

1992

By:

Antignac, Corinne;
Jing Zhou;
Sanak, Marek;
Cochat, Pierre;
Roussel, Bernard;
Deschênes, Georges;
Gros, Françoise;
Knebelmann, Bertrand;
Hors-Cayla, Marie-Claude;
Tryggvason, Karl;
Marie-Claire Gubler;
Antignac, C;
Zhou, J;
Sanak, M;
Cochat, P;
Roussel, B;
Deschênes, G;
Gros, F;
Knebelmann, B;
Hors-Cayla, M C

Publication type:

journal article

Delayed renal failure with extensive mesangiolysis following bone marrow transplantation.

Published in:

Kidney International, 1989, v. 35, n. 6, p. 1336, doi. 10.1038/ki.1989.132

By:

Antignac, Corinne;
Gubler, Marie-Claire;
Leverger, Guy;
Broyer, Michel;
Habib, Renée;
Lacoste, Mireille;
Beziau, Agnès;
Naizot, Colette

Publication type:

Article

Sodium retention by uPA‐plasmin‐ENaC in nephrotic syndrome—Authors reply.

Published in:

Acta Physiologica, 2020, v. 228, n. 4, p. 1, doi. 10.1111/apha.13432

By:

Hinrichs, Gitte R.;
Weyer, Kathrin;
Friis, Ulla G.;
Svenningsen, Per;
Lund, Ida Katrine;
Nielsen, Rikke;
Mollet, Géraldine;
Antignac, Corinne;
Bistrup, Claus;
Jensen, Boye L.;
Birn, Henrik

Publication type:

Article

Urokinase‐type plasminogen activator contributes to amiloride‐sensitive sodium retention in nephrotic range glomerular proteinuria in mice.

Published in:

Acta Physiologica, 2019, v. 227, n. 4, p. N.PAG, doi. 10.1111/apha.13362

By:

Hinrichs, Gitte R.;
Weyer, Kathrin;
Friis, Ulla G.;
Svenningsen, Per;
Lund, Ida K.;
Nielsen, Rikke;
Mollet, Géraldine;
Antignac, Corinne;
Bistrup, Claus;
Jensen, Boye L.;
Birn, Henrik

Publication type:

Article

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

Published in:

Proteins, 2005, v. 59, n. 2, p. 347, doi. 10.1002/prot.20344

By:

le Maire, Albane;
Weber, Thomas;
Saunier, Sophie;
Broutin, Isabelle;
Antignac, Corinne;
Ducruix, Arnaud;
Dardel, Frédéric

Publication type:

Article

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

Published in:

2005

By:

Gribouval, Olivier;
Gonzales, Marie;
Neuhaus, Thomas;
Aziza, Jacqueline;
Bieth, Eric;
Laurent, Nicole;
Bouton, Jean Marie;
Feuillet, François;
Makni, Saloua;
Amar, Hatem Ben;
Laube, Guido;
Delezoide, Anne-Lise;
Bouvier, Raymonde;
Dijoud, Frédérique;
Ollagnon-Roman, Elisabeth;
Roume, Joelle;
Joubert, Madeleine;
Antignac, Corinne;
Gubler, Marie Claire

Publication type:

Letter

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Published in:

Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216

By:

Olbrich, Heike;
Fliegauf, Manfred;
Hoefele, Julia;
Kispert, Andreas;
Otto, Edgar;
Volz, Andreas;
Wolf, Matthias T.;
Sasmaz, Gürsel;
Trauer, Ute;
Reinhardt, Richard;
Sudbrak, Ralf;
Antignac, Corinne;
Gretz, Norbert;
Walz, Gerd;
Schermer, Bernhard;
Benzing, Thomas;
Hildebrandt, Friedhelm;
Omran, Heymut

Publication type:

Article

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

Published in:

Nature Genetics, 2002, v. 32, n. 2, p. 300, doi. 10.1038/ng996

By:

Mollet, Géraldine;
Salomon, Rémi;
Gribouval, Olivier;
Silbermann, Flora;
Bacq, Delphine;
Landthaler, Gilbert;
Milford, David;
Nayir, Ahmet;
Rizzoni, Gianfranco;
Antignac, Corinne;
Saunier, Sophie

Publication type:

Article

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 310

By:

Birkenhäger, Ralf;
Otto, Edgar;
Schürmann, Maria J.;
Vollmer, Martin;
Ruf, Eva-Maria;
Maier-Lutz, Irina;
Beekmann, Frank;
Fekete, Andrea;
Omran, Heymut;
Feldmann, Delphine;
Milford, David V.;
Jeck, Nicola;
Konrad, Martin;
Landau, Daniel;
Knoers, Nine V.A.M.;
Antignac, Corinne;
Sudbrak, Ralf;
Kispert, Andreas;
Hildebrandt, Friedhelm

Publication type:

Article

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Published in:

Nature Genetics, 2000, v. 24, n. 4, p. 349, doi. 10.1038/74166

By:

Boute, Nicolas;
Gribouval, Olivier;
Roselli, Séverine;
Benessy, France;
Lee, Hyunjoo;
Fuchshuber, Arno;
Dahan, Karin;
Gubler, Marie-Claire;
Niaudet, Patrick;
Antignac, Corinne

Publication type:

Article

Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.

Published in:

2011

By:

Akilesh, Shreeram;
Suleiman, Hani;
Yu, Haiyang;
Stander, M. Christine;
Lavin, Peter;
Rasheed, Gbadegesin;
Antignac, Corinne;
Pollak, Martin;
Kopp, Jeffrey B.;
Winn, Michelle P.;
Shaw, Andrey S.;
Gbadegesin, Rasheed

Publication type:

journal article

A novelNPHS2gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.

Published in:

Nephrology, 2004, v. 9, n. 5, p. 310, doi. 10.1111/j.1440-1797.2004.00324.x

By:

OZER, ESRA ARUN;
AKSU, NEJAT;
ERDOGAN, HAKAN;
YAVASCAN, ONDER;
KARA, ORHAN;
GRIBOUVAL, OLIVIER;
GUBLER, MARIE-CLAIRE;
ANTIGNAC, CORINNE

Publication type:

Article

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

Published in:

Nature Genetics, 2014, v. 46, n. 3, p. 299, doi. 10.1038/ng.2898

By:

Tory, Kálmán;
Menyhárd, Dóra K;
Woerner, Stéphanie;
Nevo, Fabien;
Gribouval, Olivier;
Kerti, Andrea;
Stráner, Pál;
Arrondel, Christelle;
Cong, Evelyne Huynh;
Tulassay, Tivadar;
Mollet, Géraldine;
Perczel, András;
Antignac, Corinne

Publication type:

Article

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

Published in:

Nature Genetics, 2013, v. 45, n. 3, p. 299, doi. 10.1038/ng.2543

By:

Kirby, Andrew;
Gnirke, Andreas;
Jaffe, David B;
Barešová, Veronika;
Pochet, Nathalie;
Blumenstiel, Brendan;
Ye, Chun;
Aird, Daniel;
Stevens, Christine;
Robinson, James T;
Cabili, Moran N;
Gat-Viks, Irit;
Kelliher, Edward;
Daza, Riza;
DeFelice, Matthew;
Hůlková, Helena;
Sovová, Jana;
Vylet'al, Petr;
Antignac, Corinne;
Guttman, Mitchell

Publication type:

Article

Cystinosis: from gene to disease.

Published in:

Nephrology Dialysis Transplantation, 2002, v. 17, n. 11, p. 1883, doi. 10.1093/ndt/17.11.1883

By:

Kalatzis, Vasiliki;
Antignac, Corinne

Publication type:

Article

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

Published in:

Nephrology Dialysis Transplantation, 2002, v. 17, n. 1, p. 70, doi. 10.1093/ndt/17.1.70

By:

Mothes, Henning;
Heidet, Laurence;
Arrondel, Christelle;
Richter, Konrad Klaus;
Thiele, Mariana;
Patzer, Ludwig;
Sado, Yoshikazu;
Gubler, Marie‐Claire;
Antignac, Corinne;
Scheele, Johannes

Publication type:

Article

Evidence for further genetic heterogeneity in nephronophthisis.

Published in:

Nephrology Dialysis Transplantation, 2001, v. 16, n. 4, p. 755, doi. 10.1093/ndt/16.4.755

By:

Omran, Heymut;
Häffner, Karsten;
Burth, Suse;
Ala‐Mello, Sirpa;
Antignac, Corinne;
Hildebrandt, Friedhelm

Publication type:

Article

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

Published in:

Nephrology Dialysis Transplantation, 2000, v. 15, n. 7, p. 970, doi. 10.1093/ndt/15.7.970

By:

Vollmer, Martin;
Jeck, Nikola;
Lemmink, Henny H.;
Vargas, Rosa;
Feldmann, Delphine;
Konrad, Martin;
Beekmann, Frank;
van den Heuvel, Lambertus P. W. J.;
Deschenes, Georges;
Guay‐Woodford, Lisa M.;
Antignac, Corinne;
Seyberth, Hannsjörg W.;
Hildebrandt, Friedhelm;
Knoers, Nine V. A. M.

Publication type:

Article

Lysosomal Targeting of Cystinosin Requires AP-3.

Published in:

Traffic, 2015, v. 16, n. 7, p. 712, doi. 10.1111/tra.12277

By:

Andrzejewska, Zuzanna;
Névo, Nathalie;
Thomas, Lucie;
Bailleux, Anne;
Chauvet, Véronique;
Benmerah, Alexandre;
Antignac, Corinne

Publication type:

Article

Case Report Plasma Membrane Targeting of Podocin Through the Classical Exocytic Pathway: Effect of NPHS2 Mutations.

Published in:

2004

By:

Roselli, Séverine;
Moutkine, Imane;
Gribouval, Olivier;
Benmerah, Alexandre;
Antignac, Corinne

Publication type:

Book Review

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

Published in:

Human Molecular Genetics, 2005, v. 14, n. 5, p. 645, doi. 10.1093/hmg/ddi061

By:

Mollet, Géraldine;
Silbermann, Flora;
Delous, Marion;
Salomon, Rémi;
Antignac, Corinne;
Saunier, Sophie

Publication type:

Article

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 13, p. 1361, doi. 10.1093/hmg/ddh152

By:

Kalatzis, Vasiliki;
Nevo, Nathalie;
Cherqui, Stéphanie;
Gasnier, Bruno;
Antignac, Corinne

Publication type:

Article

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2507, doi. 10.1093/hmg/8.13.2507

By:

Attard, Marlene;
Jean, Genevieve;
Forestier, Lionel;
Cherqui, Stephanie;
van't Hoff, William;
Broyer, Michel;
Antignac, Corinne;
Town, Margaret

Publication type:

Article

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2317, doi. 10.1093/hmg/6.13.2317

By:

Saunier, Sophie;
Calado, Joaquim;
Heilig, Roland;
Silbermann, Flora;
Benessy, France;
Morin, Gilles;
Konrad, Martin;
Broyer, Michel;
Gubler, Marie-Claire;
Weissenbach, Jean;
Antignac, Corinne

Publication type:

Article

Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 17, doi. 10.1093/hmg/6.1.17

By:

Károlyi, Lothar;
Konrad, Martin;
Köckerling, Arnold;
Ziegler, Andreas;
Zimmermann, Dorthe K.;
Roth, Bernd;
Wieg, Christian;
Grzeschik, Karl-Heinz;
Koch, Manuela C.;
Seyberth, Hannsjörg W.;
Vargas, Rosa;
Forestier, Lionel;
Jean, Genevieve;
Deschaux, Michele;
Rizzoni, Gian Franco;
Niaudet, Patrick;
Antignac, Corinne;
Feldmann, Delphine;
Lorridon, Frederique;
Cougoureux, Emmanuel

Publication type:

Article

Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 3, p. 367, doi. 10.1093/hmg/5.3.367

By:

Konrad, Martin;
Saunier, Sophie;
Heidet, Laurence;
Silbermann, Flora;
Benessy, France;
Calado, Joaquim;
Le Paslier, Denis;
Broyer, Michel;
Gubler, Marie-Claire;
Antignac, Corinne

Publication type:

Article

Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 11, p. 2155

By:

Fuchshuber, Arno;
Jean, Genevievè;
Gribouval, Olivler;
Gubler, Marie-Claire;
Broyer, Michel;
Beckmann, Jacques S.;
Niaudet, Patrick;
Antignac, Corinne

Publication type:

Article

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 4, p. 675

By:

Knebelmann, Bertrand;
Forestier, Lionel;
Drouot, Laurent;
Quinones, Susan;
Chuet, Christian;
Benessy, France;
Saus, Juan;
Antignac, Corinne

Publication type:

Article

A slit-diaphragm-associated protein network for dynamic control of renal filtration.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33748-1

By:

Kocylowski, Maciej K.;
Aypek, Hande;
Bildl, Wolfgang;
Helmstädter, Martin;
Trachte, Philipp;
Dumoulin, Bernhard;
Wittösch, Sina;
Kühne, Lukas;
Aukschun, Ute;
Teetzen, Carolin;
Kretz, Oliver;
Gaal, Botond;
Kulik, Akos;
Antignac, Corinne;
Mollet, Geraldine;
Köttgen, Anna;
Göcmen, Burulca;
Schwenk, Jochen;
Schulte, Uwe;
Huber, Tobias B.

Publication type:

Article

An inducible mouse model of podocin-mutation-related nephrotic syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186574

By:

Tabatabaeifar, Mansoureh;
Wlodkowski, Tanja;
Simic, Ivana;
Denc, Helga;
Mollet, Geraldine;
Weber, Stefanie;
Moyers, John Julius;
Brühl, Barbara;
Randles, Michael Joseph;
Lennon, Rachel;
Antignac, Corinne;
Schaefer, Franz

Publication type:

Article

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Published in:

PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006220

By:

Lewis, Wesley R.;
Malarkey, Erik B.;
Tritschler, Douglas;
Bower, Raqual;
Pasek, Raymond C.;
Porath, Jonathan D.;
Birket, Susan E.;
Saunier, Sophie;
Antignac, Corinne;
Knowles, Michael R.;
Leigh, Margaret W.;
Zariwala, Maimoona A.;
Challa, Anil K.;
Kesterson, Robert A.;
Rowe, Steven M.;
Drummond, Iain A.;
Parant, John M.;
Hildebrandt, Friedhelm;
Porter, Mary E.;
Yoder, Bradley K.

Publication type:

Article

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

Published in:

Pediatric Nephrology, 2005, v. 20, n. 4, p. 465, doi. 10.1007/s00467-004-1725-4

By:

Goldenberg, Alice;
Linh Huynh Ngoc;
Thouret, Marie-Christine;
Cormier-Daire, Valérie;
Gagnadoux, Marie-France;
Chértien, Dominique;
Lefrançois, Catherine;
Geromel, Vanna;
Rötig, Agèns;
Rustin, Pierre;
Munnich, Arnold;
Paquis, Véronique;
Antignac, Corinne;
Gubler, Marie-Claire;
Niaudet, Patrick;
de Lonlay, Pascale;
Bérard, Etienne

Publication type:

Article