Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.-C., Niaudet, P., & Antignac, C. (2000). NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genetics, 24(4), 349–354.

Authors 10
  1. Nicolas Boute (first)
  2. Olivier Gribouval (additional)
  3. Séverine Roselli (additional)
  4. France Benessy (additional)
  5. Hyunjoo Lee (additional)
  6. Arno Fuchshuber (additional)
  7. Karin Dahan (additional)
  8. Marie-Claire Gubler (additional)
  9. Patrick Niaudet (additional)
  10. Corinne Antignac (additional)
References 40 Referenced 1,088
  1. Olson, J.L. & Schwartz, M.M. The nephrotic syndrome: minimal change disease, focal segmental glomerulosclerosis, and miscellaneous causes . in Heptinstall's Pathology of the Kidney (eds Jennette, J.C., Olson, J.L. & Silva, F.G.) 187–257 (Lippincott-Raven, Philadelphia, 1998). / Heptinstall's Pathology of the Kidney by JL Olson (1998)
  2. Broyer, M., Meyrier, A., Niaudet, P. & Habib, R. Minimal changes and focal segmental glomerular sclerosis. in Oxford Textbook of Clinical Nephrology (eds Davison, A.M. et al.) 493– 535 (Oxford University Press, Oxford, 1998). / Oxford Textbook of Clinical Nephrology by M Broyer (1998)
  3. Kestilä, M. et al. Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome. Mol. Cell 1, 575–582 (1998). (10.1016/S1097-2765(00)80057-X) / Mol. Cell by M Kestilä (1998)
  4. Ruotsalainen, V. et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc. Natl Acad. Sci. USA 96, 7962–7967 (1999). (10.1073/pnas.96.14.7962) / Proc. Natl Acad. Sci. USA by V Ruotsalainen (1999)
  5. Holthofer, H. et al. Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. Am. J. Pathol. 155, 1681–1687 ( 1999). (10.1016/S0002-9440(10)65483-1) / Am. J. Pathol. by H Holthofer (1999)
  6. Holzman, L.B. et al. Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int. 56, 1481– 1491 (1999). (10.1046/j.1523-1755.1999.00719.x) / Kidney Int. by LB Holzman (1999)
  7. Mathis, B.J. et al. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int. 53, 282 –286 (1998). (10.1046/j.1523-1755.1998.00828.x) / Kidney Int. by BJ Mathis (1998)
  8. Winn, M.P. et al. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 58, 113–120 ( 1999). (10.1006/geno.1999.5828) / Genomics by MP Winn (1999)
  9. Fuchshuber, A. et al. Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum. Mol. Genet. 4, 2155– 2158 (1995). (10.1093/hmg/4.11.2155) / Hum. Mol. Genet. by A Fuchshuber (1995)
  10. Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152– 154 (1996). (10.1038/380152a0) / Nature by C Dib (1996)
  11. Kozak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563–574 (1996). (10.1007/s003359900171) / Mamm. Genome by M Kozak (1996)
  12. Prestridge, D.S. Predicting Pol II promoter sequences using transcription factor binding sites. J. Mol. Biol. 249, 923– 932 (1995). (10.1006/jmbi.1995.0349) / J. Mol. Biol by DS Prestridge (1995)
  13. Bairoch, A., Bucher, P. & Hofmann, K. The PROSITE database, its status in 1995. Nucleic Acids Res. 24, 189–196 (1996). (10.1093/nar/24.1.189) / Nucleic Acids Res. by A Bairoch (1996)
  14. Nakai, K. & Kanehisa, M. A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics 14, 897–911 (1992). (10.1016/S0888-7543(05)80111-9) / Genomics by K Nakai (1992)
  15. Snyers, L., Umlauf, E. & Prohaska, R. Cysteine 29 is the major palmitoylation site on stomatin. FEBS Lett. 449, 101–104 (1999). (10.1016/S0014-5793(99)00417-2) / FEBS Lett by L Snyers (1999)
  16. Stewart, G.W. et al. Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes. Blood 79, 1593–1601 (1992). (10.1182/blood.V79.6.1593.1593) / Blood by GW Stewart (1992)
  17. Huang, M., Gu, G., Ferguson, E.L. & Chalfie, M. A stomatin-like protein necessary for mechanosensation in C. elegans. Nature 378, 292–295 (1995). (10.1038/378292a0) / Nature by M Huang (1995)
  18. Mannsfeldt, A.G., Carroll, P., Stucky, C.L. & Lewin, G.R. Stomatin, a MEC-2 like protein, is expressed by mammalian sensory neurons. Mol. Cell. Neurosci. 13, 391– 404 (1999). (10.1006/mcne.1999.0761) / Mol. Cell. Neurosci. by AG Mannsfeldt (1999)
  19. Salzer, U., Ahorn, H. & Prohaska, R. Identification of the phosphorylation site on human erythrocyte band 7 integral membrane protein: implications for a monotopic protein structure. Biochim. Biophys. Acta. 1151, 149–152 (1993). (10.1016/0005-2736(93)90098-K) / Biochim. Biophys. Acta. by U Salzer (1993)
  20. Snyers, L., Umlauf, E. & Prohaska, R. Oligomeric nature of the integral membrane protein stomatin. J. Biol. Chem. 273, 17221– 17226 (1998). (10.1074/jbc.273.27.17221) / J. Biol. Chem. by L Snyers (1998)
  21. Engelman, J.A., Zhang, X.L., Razani, B., Pestell, R.G. & Lisanti, M.P. p42/44 MAP kinase-dependent and -independent signaling pathways regulate caveolin-1 gene expression. J. Biol. Chem. 274, 32333–32341 (1999). (10.1074/jbc.274.45.32333) / J. Biol. Chem. by JA Engelman (1999)
  22. Shih, N.Y. et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286, 312– 315 (1999). (10.1126/science.286.5438.312) / Science by NY Shih (1999)
  23. Kirsch, K.H., Georgescu, M.M., Ishimaru, S. & Hanafusa, H. CMS: an adapter molecule involved in cytoskeletal rearrangements. Proc. Natl Acad. Sci. USA 96, 6211– 6216 (1999). (10.1073/pnas.96.11.6211) / Proc. Natl Acad. Sci. USA by KH Kirsch (1999)
  24. Noakes, P.G. et al. The renal glomerulus of mice lacking s-laminin/laminin β2: nephrosis despite molecular compensation by laminin β1. Nature Genet. 10, 400–406 ( 1995). (10.1038/ng0895-400) / Nature Genet. by PG Noakes (1995)
  25. Parving, H.H. et al. Prevalence and causes of albuminuria in non-insulin-dependent diabetic patients. Kidney Int. 41, 758– 762 (1992). (10.1038/ki.1992.118) / Kidney Int. by HH Parving (1992)
  26. Connolly, J.O., Weston, C.E. & Hendry, B.M. HIV-associated renal disease in London hospitals. Q. J. Med. 88, 627–634 (1995). / Q. J. Med. by JO Connolly (1995)
  27. Verani, R.R. Obesity-associated focal segmental glomerulosclerosis: pathological features of the lesion and relationship with cardiomegaly and hyperlipidemia. Am. J. Kidney Dis. 20, 629–634 (1992). (10.1016/S0272-6386(12)70230-5) / Am. J. Kidney Dis. by RR Verani (1992)
  28. Ioannou, P.A. et al. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6, 84–89 (1994). (10.1038/ng0194-84) / Nature Genet. by PA Ioannou (1994)
  29. Trask, B.J. et al. Characterization of somatic cell hybrids by bivariate flow karyotyping and fluorescence in situ hybridization. Somat. Cell Mol. Genet. 17, 117–136 (1991). (10.1007/BF01232970) / Somat. Cell Mol. Genet. by BJ Trask (1991)
  30. Town, M. et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet. 18, 319–324 (1998). (10.1038/ng0498-319) / Nature Genet. by M Town (1998)
  31. Li, B.L. et al. Human acyl-CoA:cholesterol acyltransferase-1 (ACAT-1) gene organization and evidence that the 4.3-kilobase ACAT-1 mRNA is produced from two different chromosomes. J. Biol. Chem. 274, 11060– 11071 (1999). (10.1074/jbc.274.16.11060) / J. Biol. Chem. by BL Li (1999)
  32. Brandenberger, A.W., Tee, M.K., Lee, J.Y., Chao, V. & Jaffe, R.B. Tissue distribution of estrogen receptors α (ER-α) and β (ER-β) mRNA in the midgestational human fetus. J. Clin. Endocrinol. Metab. 82, 3509– 3512 (1997). / J. Clin. Endocrinol. Metab. by AW Brandenberger (1997)
  33. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403–410 ( 1990). (10.1016/S0022-2836(05)80360-2) / J. Mol. Biol. by SF Altschul (1990)
  34. Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22, 4673–4680 (1994). (10.1093/nar/22.22.4673) / Nucleic Acids Res. by JD Thompson (1994)
  35. Fuchshuber, A. et al. Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome. Lancet 347, 1050– 1051 (1996). (10.1016/S0140-6736(96)90193-2) / Lancet by A Fuchshuber (1996)
  36. Sibony, M., Commo, F., Callard, P. & Gasc, J.M. Enhancement of mRNA in situ hybridization signal by microwave heating. Lab. Invest. 73, 586–591 (1995). / Lab. Invest. by M Sibony (1995)
  37. Kalatzis, V., Sahly, I., El-Amraoui, A. & Petit, C. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome. Dev. Dyn. 213, 486–499 ( 1998). (10.1002/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L) / Dev. Dyn. by V Kalatzis (1998)
  38. Heidet, L. et al. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization. Lab. Invest. 76, 233–243 (1997). / Lab. Invest. by L Heidet (1997)
  39. Antonarakis, S.E. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum. Mutat. 11, 1– 3 (1998). (10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O) / Hum. Mutat. by SE Antonarakis (1998)
  40. Kaplan, J.M. et al. Mutations in ACTN4, encoding a-actinin 4, cause familial focal segmental glomerulosclerosis. Nature Genet. 64, 251–256 (2000). (10.1038/73456) / Nature Genet. by JM Kaplan (2000)
Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 4:50 a.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:26 p.m.)
Indexed 33 minutes ago (Aug. 26, 2025, 9:49 p.m.)
Issued 25 years, 4 months ago (April 1, 2000)
Published 25 years, 4 months ago (April 1, 2000)
Published Print 25 years, 4 months ago (April 1, 2000)
Funders 0

None

@article{Boute_2000, title={NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome}, volume={24}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/74166}, DOI={10.1038/74166}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Boute, Nicolas and Gribouval, Olivier and Roselli, Séverine and Benessy, France and Lee, Hyunjoo and Fuchshuber, Arno and Dahan, Karin and Gubler, Marie-Claire and Niaudet, Patrick and Antignac, Corinne}, year={2000}, month=apr, pages={349–354} }