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Type IV collagen: Structure, gene organization, and role in human diseases: Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis
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Hudson B.G., Reeders S., Tryggvason K. Type IV collagen: structure, gene organization, and role in human diseases: molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J Biol Chem. 268:1993;26033-26036.
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Hudson, B.G.1
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2
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0025292712
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Identification of mutations in the COL4A5 collagen gene in Alport syndrome
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Barker D., Hostikka S.L., Zhou J., Chow L.T., Oliphant A.R., Gerken S.C., Gregory M.C., Skolnick M.H., Atkin C.L., Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 248:1990;1224-1227.
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Barker, D.1
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0033855640
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Congenital nephrotic syndrome of the Finnish type (NPHS1): Features resulting from different nephrin mutations in different patients
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Patrakka J., Kestilä M., Wartiovaara J., Ruotsalainen V., Tissari P., Lenkkeri U., Männikkö M., Visapää I., Holmberg C., Rapola J., et al. Congenital nephrotic syndrome of the Finnish type (NPHS1): features resulting from different nephrin mutations in different patients. Kidney Int. 58:2000;972-980.
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Patrakka, J.1
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Lenkkeri, U.6
Männikkö, M.7
Visapää, I.8
Holmberg, C.9
Rapola, J.10
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Management of congenital nephrotic syndrome of the Finnish type
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Holmberg C., Antikainen M., Ronnholm K., Ala Houhala M., Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol. 9:1995;87-93.
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Holmberg, C.1
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Ala Houhala, M.4
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6
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0028329864
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Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19
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Kestilä M., Mannikkö M., Holmberg C., Gyapay G., Weissenbach J., Savolainen E.R., Peltonen L., Tryggvason K. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet. 54:1994;757-764.
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7
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0028863565
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Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1
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Mannikkö M., Kestila M., Holmberg C., Norio R., Ryynänen M., Olsen A., Peltonen L., Tryggvason K. Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet. 57:1995;1377-1383.
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Mannikkö, M.1
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Ryynänen, M.5
Olsen, A.6
Peltonen, L.7
Tryggvason, K.8
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8
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0032015551
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Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome
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Kestilä M., Lenkkeri U., Mannikkö M., Lamerdin J., McCready P., Putaala H., Ruotsalainen V., Morita T., Nissinen M., Herva R., et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell. 1:1998;575-582.
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Kestilä, M.1
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Putaala, H.6
Ruotsalainen, V.7
Morita, T.8
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9
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Nephrin localizes to the slit pore of the glomerular epithelial cell
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Holzman L.B., St John P.L., Kovari I.A., Verma R., Holthofer H., Abrahamson D.R. Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int. 56:1999;1481-1491.
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Holzman, L.B.1
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Abrahamson, D.R.6
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Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney
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Holthofer H., Ahola H., Solin M.L., Wang S., Palmen T., Luimula P., Miettinen A., Kerjaschki D. Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. Am J Pathol. 155:1999;1681-1687.
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Holthofer, H.1
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Miettinen, A.7
Kerjaschki, D.8
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0033529312
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Nephrin is specifically located at the slit diaphragm of glomerular podocytes
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The authors describe the generation of nephrin antibodies by which they can, for the first time, localize nephrin at the glomerular filtration barrier. In immunoelectron microscopy, nephrin is found at the slit between podocyte foot processes. A zipper-like model for nephrin assembly in the slit diaphragm is presented.
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Ruotsalainen V., Ljungberg P., Wartiovaara J., Lenkkeri U., Kestilä M., Jalanko H., Holmberg C., Tryggvason K. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci USA. 96:1999;7962-7967. The authors describe the generation of nephrin antibodies by which they can, for the first time, localize nephrin at the glomerular filtration barrier. In immunoelectron microscopy, nephrin is found at the slit between podocyte foot processes. A zipper-like model for nephrin assembly in the slit diaphragm is presented.
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Proc Natl Acad Sci USA
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Ruotsalainen, V.1
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Jalanko, H.6
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Unraveling the mechanisms of glomerular ultrafiltration: Nephrin, a key component of the slit diaphragm
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Tryggvason K. Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm. J Am Soc Nephrol. 10:1999;2440-2445.
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Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations
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Lenkkeri U., Mannikkö M., McCready P., Lamerdin J., Gribouval O., Niaudet P., Antignac C., Kashtan C.E., Holmberg C., Olsen A., et al. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet. 64:1999;51-61.
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Lenkkeri, U.1
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McCready, P.3
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Gribouval, O.5
Niaudet, P.6
Antignac, C.7
Kashtan, C.E.8
Holmberg, C.9
Olsen, A.10
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Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type
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Aya K., Tanaka H., Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int. 57:2000;401-404.
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Aya, K.1
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Beltcheva O., Martin P., Lenkkeri U., Tryggvason K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat. 17:2001;368-373.
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Beltcheva, O.1
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0035164681
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The murine nephrin gene is specifically expressed in kidney, brain and pancreas. Inactivation of the gene leads to massive proteinurea and neonatal death
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Using homologous recombination, a mouse model for congenital nephrotic syndrome (NPHS1) is generated by inactivating the nephrin gene in embryonic stem cells with a lacZ gene reporter construct. The knock-out mice develop massive proteinuria and die within 24 hours. The kidneys of null mice exhibit enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and absence of the slit diaphragm, essentially as found in human NPHS1 patients. In addition to glomerular podocytes expression, the reporter gene is also expressed in the brain and pancreas. Expression in the brain is restricted to the ventricular zone of the fourth ventricle, the developing spinal cord, cerebellum, hippocampus and olfactory bulb. In the cerebellum, the expression is seen in radial glial cells.
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Putaala H., Soininen R., Kilpeläinen P., Wartiovaara J., Tryggvason K. The murine nephrin gene is specifically expressed in kidney, brain and pancreas. Inactivation of the gene leads to massive proteinurea and neonatal death. Hum Mol Genet. 10:2001;1-8. Using homologous recombination, a mouse model for congenital nephrotic syndrome (NPHS1) is generated by inactivating the nephrin gene in embryonic stem cells with a lacZ gene reporter construct. The knock-out mice develop massive proteinuria and die within 24 hours. The kidneys of null mice exhibit enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and absence of the slit diaphragm, essentially as found in human NPHS1 patients. In addition to glomerular podocytes expression, the reporter gene is also expressed in the brain and pancreas. Expression in the brain is restricted to the ventricular zone of the fourth ventricle, the developing spinal cord, cerebellum, hippocampus and olfactory bulb. In the cerebellum, the expression is seen in radial glial cells.
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Putaala, H.1
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0032483559
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A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts
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Dustin M.L., Olszowy M.W., Holdorf A.D., Li J., Bromley S., Desai N., Widder P., Rosenberger F., van der Merwe P.A., Allen P.M., Shaw A.S. A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell. 94:1998;667-677.
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Congenital nephrotic syndrome in mice lacking CD2-associated protein
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Using gene targeting, the authors generate mice lacking CD2AP. Although the immune function is compromised in CD2AP-deficient mice, these mice die from renal failure at 6-7 weeks of age. In the kidney, CD2AP is expressed primarily in glomerular podocytes. The knockout mice also exhibit defects in podocyte foot processes, accompanied by mesangial cell hyperplasia and extracellular matrix deposition. Using co-precipitation studies, the authors show that CD2AP can interact with the cytoplasmic part of nephrin. This observation supports a role for CD2AP in slit diaphragm function.
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Shih N.Y., Li J., Karpitskii V., Nguyen A., Dustin M.L., Kanagawa O., Miner J.H., Shaw A.S. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science. 286:1999;312-315. Using gene targeting, the authors generate mice lacking CD2AP. Although the immune function is compromised in CD2AP-deficient mice, these mice die from renal failure at 6-7 weeks of age. In the kidney, CD2AP is expressed primarily in glomerular podocytes. The knockout mice also exhibit defects in podocyte foot processes, accompanied by mesangial cell hyperplasia and extracellular matrix deposition. Using co-precipitation studies, the authors show that CD2AP can interact with the cytoplasmic part of nephrin. This observation supports a role for CD2AP in slit diaphragm function.
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Science
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Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
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Fuchshuber A., Jean G., Gribouval O., Gubler M.C., Broyer M., Beckmann J.S., Niaudet P., Antignac C. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet. 4:1995;2155-2158.
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Niaudet, P.7
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0034034757
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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
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The authors use positional cloning to identify the causative gene in autosomal recessive steroid-resistant nephrotic syndrome, which maps to chromosome 1q25-q31. They identify 10 different mutations, including nonsense, frameshift and missense mutations, demonstrating that podocin has a crucial role in the function of the glomerular filtration barrier. The detection of NPHS2 mutations is of clinical use as it would prescribe against unnecessary immunosuppressive therapy and permit the prediction of an absence of disease recurrence after kidney transplantation.
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Boute N., Gribouval O., Roselli S., Benessy F., Lee H., Fuchshuber A., Dahan K., Gubler M.C., Niaudet P., Antignac C. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 24:2000;349-354. The authors use positional cloning to identify the causative gene in autosomal recessive steroid-resistant nephrotic syndrome, which maps to chromosome 1q25-q31. They identify 10 different mutations, including nonsense, frameshift and missense mutations, demonstrating that podocin has a crucial role in the function of the glomerular filtration barrier. The detection of NPHS2 mutations is of clinical use as it would prescribe against unnecessary immunosuppressive therapy and permit the prediction of an absence of disease recurrence after kidney transplantation.
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Nat Genet
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Boute, N.1
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Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene
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Putaala H., Sainio K., Sariola H., Tryggvason K. Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene. J Am Soc Nephrol. 11:2000;991-1001.
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A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13
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Mathis B.J., Kim S.H., Calabrese K., Haas M., Seidman J.G., Seidman C.E., Pollak M.R. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int. 53:1998;282-286.
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Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity
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Winn M.P., Conlon P.J., Lynn K.L., Howell D.N., Slotterbeck B.D., Smith A.H., Graham F.L., Bembe M., Quarles L.D., Pericak-Vance M.A., Vance J.M. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics. 58:1999;113-120.
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Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
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The authors present evidence implicating mutations in the gene encoding α-actinin-4 (ACTN4) as the cause of disease in three families with an autosomal dominant form of FSGS. The protein is an actin-filament crosslinking protein with high expression in podocytes. Furthermore, the authors show that mutant α-actinin-4 binds filamentous actin more strongly than does wild-type α-actinin-4. The authors propose that regulation of the actin cytoskeleton in podocytes may be altered in this group of patients with such dominant mutations.
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Kaplan J.M., Kim S.H., North K.N., Rennke H., Correia L.A., Tong H.Q., Mathis B.J., Rodriguez-Perez J.C., Allen P.G., Beggs A.H., Pollak M.R. Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 24:2000;251-256. The authors present evidence implicating mutations in the gene encoding α-actinin-4 (ACTN4) as the cause of disease in three families with an autosomal dominant form of FSGS. The protein is an actin-filament crosslinking protein with high expression in podocytes. Furthermore, the authors show that mutant α-actinin-4 binds filamentous actin more strongly than does wild-type α-actinin-4. The authors propose that regulation of the actin cytoskeleton in podocytes may be altered in this group of patients with such dominant mutations.
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The candidate Wilms' tumour gene is involved in genitourinary development
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