1 - 25 of 91 results for author:"Antignac C." in Literature citations
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| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A. et al. |
| FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Barak H., Huh S.H., Chen S., Jeanpierre C., Martinovic J., Parisot M., Bole-Feysot C., Nitschke P., Salomon R., Antignac C. et al. Dev. Cell 22:1191-1207(2012) · Mapped (33) |
| Cystinosin is a melanosomal protein that regulates melanin synthesis. Chiaverini C., Sillard L., Flori E., Ito S., Briganti S., Wakamatsu K., Fontas E., Berard E., Cailliez M., Cochat P. et al. FASEB J. 26:3779-3789(2012) · Mapped (4) |
| Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Perrault I., Saunier S., Hanein S., Filhol E., Bizet A.A., Collins F., Salih M.A., Gerber S., Delphin N., Bigot K. et al. Am. J. Hum. Genet. 90:864-870(2012) · UniProtKB (1) · Mapped (6) |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Bower M., Salomon R., Allanson J., Antignac C., Benedicenti F., Benetti E., Binenbaum G., Jensen U.B., Cochat P., DeCramer S. et al. |
| INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. Boyer O., Nevo F., Plaisier E., Funalot B., Gribouval O., Benoit G., Cong E.H., Arrondel C., Tete M.J., Montjean R. et al. N. Engl. J. Med. 365:2377-2388(2011) · UniProtKB (1) · Mapped (4) |
| Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. Akilesh S., Suleiman H., Yu H., Stander M.C., Lavin P., Gbadegesin R., Antignac C., Pollak M., Kopp J.B., Winn M.P. et al. J. Clin. Invest. 121:4127-4137(2011) · Mapped (16) |
| Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Bollee G., Dahan K., Flamant M., Moriniere V., Pawtowski A., Heidet L., Lacombe D., Devuyst O., Pirson Y., Antignac C. et al. Clin J Am Soc Nephrol 6:2429-2438(2011) · Mapped (4) |
| Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. Burckle C., Gaude H.M., Vesque C., Silbermann F., Salomon R., Jeanpierre C., Antignac C., Saunier S., Schneider-Maunoury S. Hum. Mol. Genet. 20:2611-2627(2011) · Mapped (16) |
| Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Krug P., Moriniere V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L. |
| Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. Boyer O., Benoit G., Gribouval O., Nevo F., Tete M.J., Dantal J., Gilbert-Dussardier B., Touchard G., Karras A., Presne C. et al. J. Am. Soc. Nephrol. 22:239-245(2011) · Mapped (5) |
| Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children. Mbarek I.B., Abroug S., Omezzine A., Pawtowski A., Gubler M.C., Bouslama A., Harbi A., Antignac C. Pediatr. Nephrol. 26:241-249(2011) · Mapped (6) |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Otto E.A., Ramaswami G., Janssen S., Chaki M., Allen S.J., Zhou W., Airik R., Hurd T.W., Ghosh A.K., Wolf M.T. et al. J. Med. Genet. 48:105-116(2011) · UniProtKB (1) · Mapped (51) |
| Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals. Wodarczyk C., Distefano G., Rowe I., Gaetani M., Bricoli B., Muorah M., Spitaleri A., Mannella V., Ricchiuto P., Pema M. et al. PLoS ONE 5:E12719-E12719(2010) · UniProtKB (4) · Mapped (12) |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A. et al. |
| Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome. Boyer O., Benoit G., Gribouval O., Nevo F., Pawtowski A., Bilge I., Bircan Z., Deschenes G., Guay-Woodford L.M., Hall M. et al. J. Med. Genet. 47:445-452(2010) · Mapped (3) |
| Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Matejas V., Hinkes B., Alkandari F., Al-Gazali L., Annexstad E., Aytac M.B., Barrow M., Blahova K., Bockenhauer D., Cheong H.I. et al. Hum. Mutat. 31:992-1002(2010) · Mapped (3) |
| Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. Machuca E., Benoit G., Nevo F., Tete M.J., Gribouval O., Pawtowski A., Brandstrom P., Loirat C., Niaudet P., Gubler M.C. et al. J. Am. Soc. Nephrol. 21:1209-1217(2010) · Mapped (21) |
| PAX2 mutations in fetal renal hypodysplasia. Martinovic-Bouriel J., Benachi A., Bonniere M., Brahimi N., Esculpavit C., Morichon N., Vekemans M., Antignac C., Salomon R., Encha-Razavi F. et al. Am. J. Med. Genet. A 152A:830-835(2010) · Mapped (3) |
| Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome. Benoit G., Machuca E., Nevo F., Gribouval O., Lepage D., Antignac C. Pediatr. Nephrol. 25:445-451(2010) · Mapped (7) |
| A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. Ratelade J., Arrondel C., Hamard G., Garbay S., Harvey S., Biebuyck N., Schulz H., Hastie N., Pontoglio M., Gubler M.C. et al. Hum. Mol. Genet. 19:1-15(2010) · Mapped (8) |
| Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome. Mollet G., Ratelade J., Boyer O., Muda A.O., Morisset L., Lavin T.A., Kitzis D., Dallman M.J., Bugeon L., Hubner N. et al. J. Am. Soc. Nephrol. 20:2181-2189(2009) · Mapped (5) |
| Functional analysis of BMP4 mutations identified in pediatric CAKUT patients. Tabatabaeifar M., Schlingmann K.P., Litwin M., Emre S., Bakkaloglu A., Mehls O., Antignac C., Schaefer F., Weber S. Pediatr. Nephrol. 24:2361-2368(2009) · Mapped (2) |
| Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Zivna M., Hulkova H., Matignon M., Hodanova K., Vylet'al P., Kalbacova M., Baresova V., Sikora J., Blazkova H., Zivny J. et al. Am. J. Hum. Genet. 85:204-213(2009) · UniProtKB (1) · Mapped (2) |
| The European renal genome project: an integrated approach towards understanding the genetics of kidney development and disease. Willnow T., Antignac C., Brandli A., Christensen E., Cox R., Davidson D., Davies J., Devuyst O., Eichele G., Hastie N. et al. Organogenesis 2:42-47(2005) · Mapped (797) |