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), 349â354.
References
40
Referenced
1,088
- 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)
- 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)
-
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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) - 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)
-
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) -
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) -
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) -
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) -
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) - 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)
-
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) -
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) -
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) - 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)
-
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) - 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)
-
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) -
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) |
@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} }