Gene Review:
NPHS1 - nephrosis 1, congenital, Finnish type...
Homo sapiens
Synonyms:
CNF, NPHN, Nephrin, Renal glomerulus-specific cell adhesion receptor, nephrin
Obeidová,
Merta,
Reiterová,
Maixnerová,
Stekrová,
Rysavá,
Tesar,
Chernov,
Akopov,
Nikolaev,
Sverdlov,
Narita,
Goto,
Saito,
Song,
Kondo,
Omori,
Kawachi,
Shimizu,
Sakatsume,
Ueno,
Gejyo,
Laakkonen,
Lönnqvist,
Uusimaa,
Qvist,
Valanne,
Nuutinen,
Ala-Houhala,
Majamaa,
Jalanko,
Holmberg,
Mark,
Reis,
Zenker,
Koziell,
Grech,
Hussain,
Lee,
Lenkkeri,
Tryggvason,
Scambler,
Pollak,
Jalanko,
Patrakka,
Tryggvason,
Holmberg,
- Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Koziell, A., Grech, V., Hussain, S., Lee, G., Lenkkeri, U., Tryggvason, K., Scambler, P. Hum. Mol. Genet. (2002)
- Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Huber, T.B., Simons, M., Hartleben, B., Sernetz, L., Schmidts, M., Gundlach, E., Saleem, M.A., Walz, G., Benzing, T. Hum. Mol. Genet. (2003)
- The genetic basis of FSGS and steroid-resistant nephrosis. Pollak, M.R. Semin. Nephrol. (2003)
- Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Laakkonen, H., Lönnqvist, T., Uusimaa, J., Qvist, E., Valanne, L., Nuutinen, M., Ala-Houhala, M., Majamaa, K., Jalanko, H., Holmberg, C. Pediatr. Nephrol. (2006)
- Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Mark, K., Reis, A., Zenker, M. Prenat. Diagn. (2006)
- How to select patients with normal pressure hydrocephalus for shunting. Tans, J.T., Boon, A.J. Acta Neurochir. Suppl. (2002)
- Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Kestilä, M., Lenkkeri, U., Männikkö, M., Lamerdin, J., McCready, P., Putaala, H., Ruotsalainen, V., Morita, T., Nissinen, M., Herva, R., Kashtan, C.E., Peltonen, L., Holmberg, C., Olsen, A., Tryggvason, K. Mol. Cell (1998)
- Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Lenkkeri, U., Männikkö, M., McCready, P., Lamerdin, J., Gribouval, O., Niaudet, P.M., Antignac C, K., Kashtan, C.E., Homberg, C., Olsen, A., Kestilä, M., Tryggvason, K. Am. J. Hum. Genet. (1999)
- Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Kestilä, M., Männikkö, M., Holmberg, C., Gyapay, G., Weissenbach, J., Savolainen, E.R., Peltonen, L., Tryggvason, K. Am. J. Hum. Genet. (1994)
- Genetic basis of nephrotic syndrome--review. Obeidová, H., Merta, M., Reiterová, J., Maixnerová, D., Stekrová, J., Rysavá, R., Tesar, V. Prague medical report. (2006)
- A randomized multicenter trial comparing mitoxantrone, cyclophosphamide, and fluorouracil with doxorubicin, cyclophosphamide, and fluorouracil in the therapy of metastatic breast carcinoma. Bennett, J.M., Muss, H.B., Doroshow, J.H., Wolff, S., Krementz, E.T., Cartwright, K., Dukart, G., Reisman, A., Schoch, I. J. Clin. Oncol. (1988)
- A randomized multicenter trial of cyclophosphamide, Novantrone and 5-fluorouracil (CNF) versus cyclophosphamide, Adriamycin and 5-fluorouracil (CAF) in patients with metastatic breast cancer. Bennett, J.M., Byrne, P., Desai, A., White, C., DeConti, R., Vogel, C., Krementz, E., Muggia, F., Doroshow, J., Plotkin, D. Investigational new drugs. (1985)
- Growth, serum lipoproteins and apoproteins in infants with congenital nephrosis. Antikainen, M., Holmberg, C., Taskinen, M.R. Clin. Nephrol. (1992)
- Phase III trial of cyclophosphamide, epirubicin, fluorouracil (CEF) versus cyclophosphamide, mitoxantrone, fluorouracil (CNF) in women with metastatic breast cancer. Estaban, E., Lacave, A.J., Fernández, J.L., Corral, N., Buesa, J.M., Estrada, E., Palacio, I., Vieitez, J.M., Muñiz, I., Alvarez, E. Breast Cancer Res. Treat. (1999)
- WT1 activates a glomerular-specific enhancer identified from the human nephrin gene. Guo, G., Morrison, D.J., Licht, J.D., Quaggin, S.E. J. Am. Soc. Nephrol. (2004)
- Genetic kidney diseases disclose the pathogenesis of proteinuria. Jalanko, H., Patrakka, J., Tryggvason, K., Holmberg, C. Ann. Med. (2001)
- Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Lahdenkari, A.T., Kestilä, M., Holmberg, C., Koskimies, O., Jalanko, H. Kidney Int. (2004)
- Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy. Narita, I., Goto, S., Saito, N., Song, J., Kondo, D., Omori, K., Kawachi, H., Shimizu, F., Sakatsume, M., Ueno, M., Gejyo, F. Lab. Invest. (2003)
- Interaction with podocin facilitates nephrin signaling. Huber, T.B., Kottgen, M., Schilling, B., Walz, G., Benzing, T. J. Biol. Chem. (2001)
- Filtrin is a novel member of nephrin-like proteins. Ihalmo, P., Palmén, T., Ahola, H., Valtonen, E., Holthöfer, H. Biochem. Biophys. Res. Commun. (2003)
- Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Jones, N., Blasutig, I.M., Eremina, V., Ruston, J.M., Bladt, F., Li, H., Huang, H., Larose, L., Li, S.S., Takano, T., Quaggin, S.E., Pawson, T. Nature (2006)
- Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1. Lenkkeri, U., Kestilä, M., Lamerdin, J., McCready, P., Adamson, A., Olsen, A., Tryggvason, K. Hum. Genet. (1998)
- Altered gene expression and functions of mitochondria in human nephrotic syndrome. Holthöfer, H., Kretzler, M., Haltia, A., Solin, M.L., Taanman, J.W., Schägger, H., Kriz, W., Kerjaschki, D., Schlöndorff, D. FASEB J. (1999)
- Short-term effects of renal transplantation on plasma lipids and lipoprotein lipase in children with congenital nephrosis. Antikainen, M., Holmberg, C., Taskinen, M.R. Clin. Nephrol. (1994)
- Carboxyl-terminal fragments of parathyroid hormone are not secreted preferentially in primary hyperparathyroidism as they are in other hypercalcemic conditions. Brossard, J.H., Whittom, S., Lepage, R., D'Amour, P. J. Clin. Endocrinol. Metab. (1993)
- Lipid peroxidation in human proteinuric disease. Solin, M.L., Ahola, H., Haltia, A., Ursini, F., Montine, T., Roveri, A., Kerjaschki, D., Holthöfer, H. Kidney Int. (2001)
- Neoadjuvant chemotherapy with accelerated CNF plus G-CSF in patients with breast cancer tumors larger than three centimeters: a pilot study. Lorusso, V., Catino, A., Schittulli, F., Longo, S., Racanelli, A., Timurian, A., Marzullo, F., Simone, G., Brandi, M., De Lena, M. Int. J. Oncol. (1998)
- The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. Gao, F., Maiti, S., Sun, G., Ordonez, N.G., Udtha, M., Deng, J.M., Behringer, R.R., Huff, V. Mol. Cell. Biol. (2004)
- NEPH1 defines a novel family of podocin interacting proteins. Sellin, L., Huber, T.B., Gerke, P., Quack, I., Pavenstädt, H., Walz, G. FASEB J. (2003)
- Identification and mapping of nuclear matrix-attachment regions in a one megabase locus of human chromosome 19q13.12: long-range correlation of S/MARs and gene positions. Chernov, I.P., Akopov, S.B., Nikolaev, L.G., Sverdlov, E.D. J. Cell. Biochem. (2002)
- Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach. Gigante, M., Monno, F., Roberto, R., Laforgia, N., Assael, M.B., Livolti, S., Caringella, A., La Manna, A., Masella, L., Iolascon, A. J. Nephrol. (2002)
- Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change. Kuusniemi, A.M., Lapatto, R., Holmberg, C., Karikoski, R., Rapola, J., Jalanko, H. Kidney Int. (2005)
- Detection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays. Romppanen, E.L., Mononen, I. Clin. Chem. (2000)
- NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Mao, J., Zhang, Y., Du, L., Dai, Y., Gu, W., Liu, A., Shang, S., Liang, L. Pediatr. Res. (2007)