Anton Verbine
28.07.2010, 20:06
Grunfeld, JP. The clinical spectrum of hereditary nephritis. Kidney Int 1985; 27:83.
Kashtan, CE, Michael, AF. Alport syndrome. Kidney Int 1996; 50:1445.
Kashtan, CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr 2004; 16:177.
Massella, L, Onetti Muda, A, Faraggiana, T, et al. Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease. Kidney Int 2003; 64:1787.
Levy, M, Feingold, J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000; 58:925.
Persson, U, Hertz, JM, Wieslander, J, Segelmark, M. Alport syndrome in southern Sweden. Clin Nephrol 2005; 64:85.
Heidet, L, Gubler, MC. The renal lesions of Alport syndrome. J Am Soc Nephrol 2009; 20:1210.
McCoy, RC, Johnson, HK, Stone, WJ, Wilson, CB. Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. Kidney Int 1982; 21:642.
Hudson, BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol 2004; 15:2514.
Hudson, BG, Kalluri, R, Gunwar, S, et al. The pathogenesis of Alport syndrome involves type IV collagen molecules containing the a3(IV) chain: Evidence from anti-GBM nephritis after renal transplantation. Kidney Int 1992; 42:179.
Heiskari, N, Zhang, X, Zhou, J, et al. Identification of 17 mutations in ten axons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: A study of 250 patients with hematuria and suspected of having Alport syndrome. J Am Soc Nephrol 1996; 7:702.
Tryggvason, K, Zhou, J, Hostikka, SL, Shows, TB. Molecular genetics of Alport syndrome. Kidney Int 1993; 43:38.
Kashtan, CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol 1998; 9:1736.
Hudson, BG, Tryggvason, K, Sundaramoorthy, M, Neilson, EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med 2003; 348:2543.
Torra, R, Tazon-Vega, B, Ars, E, Ballarin, J. Collagen type IV ({alpha}3-{alpha}4) nephropathy: from isolated haematuria to renal failure. Nephrol Dial Transplant 2004; 19:2429.
Barker, DF, Hostikka, SL, Zhou, J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248:1224.
Antignac, C, Knebelmann, B, Druout, L, et al. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells: Correlation with disease expression. J Clin Invest 1994; 93:1195.
Rheault, MN, Kren, SM, Thielen, BK, et al. Mouse model of X-linked Alport syndrome. J Am Soc Nephrol 2004; 15:1466.
Jais, JP, Knebelmann, B, Giatras, I, De Marchi, M. X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A "European Community Alport Syndrome Concerted Action" Study. J Am Soc Nephrol 2003; 14:2603.
Mochizuki, T, Lemmink, HH, Mariyama, M, et al. Identification of mutations in the a3(IV) and a4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994; 8:77.
Longo, I, Scala, E, Mari, F, et al. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant 2006; 21:665.
Dagher, H, Buzza, M, Colville, D, et al. A Comparison of the Clinical, Histopathologic, and Ultrastructural Phenotypes in Carriers of X-Linked and Autosomal Recessive Alport's Syndrome. Am J Kidney Dis 2001; 38:1217.
van der Loop, FT, Heidet, L, Timmer, ED, et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000; 58:1870.
Longo, I, Porcedda, P, Mari, F, et al. COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 2002; 61:1947.
Pescucci, C, Mari, F, Longo, I, et al. Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int 2004; 65:1598.
Pochet, JM, Bobrie, G, Landais, P, et al. Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance. Nephrol Dial Transplant 1989; 4:1016.
Gross, O, Netzer, KO, Lambrecht, R, Seibold, S. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant 2003; 18:1122.
Kim, Y, Kleppel, MM, Butkowski, R, et al. Differential expression of basement membrane collagen chains in diabetic nephropathy. Am J Pathol 1991; 138:413.
Kobayashi, T, Uchiyama, M. Characterization of assembly of recombinant type IV collagen alpha3, alpha4, and alpha5 chains in transfected cell strains. Kidney Int 2003; 64:1986..
Nakanishi, K, Yoshikawa, N, Iijima, K, Nakamura, H. Expression of type IV collagen alpha-3 and alpha-4 chain mRNA in X-linked Alport syndrome. J Am Soc Nephrol 1996; 7:938.
Kalluri, R, Shield, CF III, Todd, P, et al. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 1997; 99:2470.
Miner, JH, Sanes, JR. Molecular and functional defects in kidneys of mice lacking collagen alpha-3(IV): Implications for Alport syndrome. J Cell Biol 1996; 135:1403.
Harvey, SJ, Zheng, K, Sado, Y, et al. Role of distinct type IV collagen networks in glomerular development and function. Kidney Int 1998; 54:1857.
Abrahamson, DR, Isom, K, Roach, E, et al. Laminin Compensation in Collagen {alpha}3(IV) Knockout (Alport) Glomeruli Contributes to Permeability Defects. J Am Soc Nephrol 2007; 18:2465.
Kashtan, CE. Animal models of Alport syndrome. Nephrol Dial Transplant 2002; 17:1359.
Yoshioka, K, Hino, S, Takemura, T, et al. Type IV collagen alpha-5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 1994; 144:986.
Zehnder, AF, Adams, JC, Santi, PA, et al. Distribution of type IV collagen in the cochlea in Alport syndrome. Arch Otolaryngol Head Neck Surg 2005; 131:1007.
Muda, AO, Massella, L, Giannakakis, K, et al. Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome. J Invest Dermatol 2003; 121:208.
Patey-Mariaud de, Serre N, Garfa, M, Bessieres, B, et al. Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients. Kidney Int 2007; 72:512.
Su, J, Liu, ZH, Zeng, CH, et al. Quantitative analysis of type IV collagen subchains in the glomerular basement membrane of patients with Alport syndrome with confocal microscopy. Nephrol Dial Transplant 2006; 21:1838.
Naito, I, Kawai, S, Nomura, S, et al. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Kidney Int 1996; 49:304.
Cheong, HI, Kashtan, CE, Kim, Y, et al. Immunohistologic studies of type IV collagen in anterior lens capsule of patients with Alport syndrome. Lab Invest 1994; 70:553.
Merchant, SN, Burgess, BJ, Adams, JC, et al. Temporal bone histopathology in alport syndrome. Laryngoscope 2004; 114:1609.
Dahan, K, Heidet, L, Zhou, J, et al. Smooth muscle tumors associated with X-linked Alport syndrome: Carrier detection in females. Kidney Int 1995; 48:1900.
Isidro, G, Matos, S, Goncalves, V, et al. Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families. Hum Mutat 2003; 22:419.
Rumpelt, HJ. Hereditary nephropathy (Alport's syndrome): Correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 1980; 13:203.