Otto EA - Search Results

1

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

Ovunc B, Otto EA, Vega-Warner V, Saisawat P, Ashraf S, Ramaswami G, Fathy HM, Schoeb D, Chernin G, Lyons RH, Yilmaz E, Hildebrandt F. Ovunc B, et al. Among authors: otto ea. J Am Soc Nephrol. 2011 Oct;22(10):1815-20. doi: 10.1681/ASN.2011040337. Epub 2011 Sep 8. J Am Soc Nephrol. 2011. PMID: 21903995 Free PMC article.

2

Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans.

Otto E, Kispert A, Schätzle S, Lescher B, Rensing C, Hildebrandt F. Otto E, et al. J Am Soc Nephrol. 2000 Feb;11(2):270-282. doi: 10.1681/ASN.V112270. J Am Soc Nephrol. 2000. PMID: 10665934

3

Molecular genetics of nephronophthisis and medullary cystic kidney disease.

Hildebrandt F, Otto E. Hildebrandt F, et al. J Am Soc Nephrol. 2000 Sep;11(9):1753-1761. doi: 10.1681/ASN.V1191753. J Am Soc Nephrol. 2000. PMID: 10966501 Review.

4

Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F. Omran H, et al. J Am Soc Nephrol. 2002 Jan;13(1):75-79. doi: 10.1681/ASN.V13175. J Am Soc Nephrol. 2002. PMID: 11752023

5

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

6

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

Ruf RG, Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E, Hildebrandt F. Ruf RG, et al. J Am Soc Nephrol. 2003 Jul;14(7):1897-900. doi: 10.1097/01.asn.0000070070.03811.02. J Am Soc Nephrol. 2003. PMID: 12819251

7

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

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Olbrich H, et al. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

8

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F. Otto EA, et al. Nat Genet. 2003 Aug;34(4):413-20. doi: 10.1038/ng1217. Nat Genet. 2003. PMID: 12872123 Free PMC article.

9

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.

Wolf MT, Karle SM, Schwarz S, Anlauf M, Anlauf M, Glaeser L, Kroiss S, Burton C, Feest T, Otto E, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Kidney Int. 2003 Sep;64(3):788-92. doi: 10.1046/j.1523-1755.2003.00161.x. Kidney Int. 2003. PMID: 12911527 Free article.

10

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Kidney Int. 2003 Nov;64(5):1580-7. doi: 10.1046/j.1523-1755.2003.00269.x. Kidney Int. 2003. PMID: 14531790 Free article.

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