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MeSH Review

Nephritis, Hereditary

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Disease relevance of Nephritis, Hereditary


Psychiatry related information on Nephritis, Hereditary


High impact information on Nephritis, Hereditary

  • Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome [7].
  • In humans, mutation of the collagen alpha 3, alpha 4, or alpha 5(IV) chain genes results in a delayed onset renal disease called Alport syndrome [8].
  • Moreover, it is demonstrated that MYH9 mutations also result in two other FTNS-like macrothrombocytopenia syndromes: Epstein syndrome (EPS) and Alport syndrome with macrothrombocytopenia (APSM) [9].
  • Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome [10].
  • Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments [11].

Chemical compound and disease context of Nephritis, Hereditary


Biological context of Nephritis, Hereditary


Anatomical context of Nephritis, Hereditary


Gene context of Nephritis, Hereditary


Analytical, diagnostic and therapeutic context of Nephritis, Hereditary


  1. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. Rohr, C., Prestel, J., Heidet, L., Hosser, H., Kriz, W., Johnson, R.L., Antignac, C., Witzgall, R. J. Clin. Invest. (2002) [Pubmed]
  2. Global gene expression analysis reveals a role for the alpha 1 integrin in renal pathogenesis. Sampson, N.S., Ryan, S.T., Enke, D.A., Cosgrove, D., Koteliansky, V., Gotwals, P. J. Biol. Chem. (2001) [Pubmed]
  3. Gelatinase B (MMP-9) is not essential in the normal kidney and does not influence progression of renal disease in a mouse model of Alport syndrome. Andrews, K.L., Betsuyaku, T., Rogers, S., Shipley, J.M., Senior, R.M., Miner, J.H. Am. J. Pathol. (2000) [Pubmed]
  4. Cyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model. Chen, D., Jefferson, B., Harvey, S.J., Zheng, K., Gartley, C.J., Jacobs, R.M., Thorner, P.S. J. Am. Soc. Nephrol. (2003) [Pubmed]
  5. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Renieri, A., Bassi, M.T., Galli, L., Zhou, J., Giani, M., De Marchi, M., Ballabio, A. Hum. Mutat. (1994) [Pubmed]
  6. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002) [Pubmed]
  7. Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. Cosgrove, D., Meehan, D.T., Grunkemeyer, J.A., Kornak, J.M., Sayers, R., Hunter, W.J., Samuelson, G.C. Genes Dev. (1996) [Pubmed]
  8. Molecular and functional defects in kidneys of mice lacking collagen alpha 3(IV): implications for Alport syndrome. Miner, J.H., Sanes, J.R. J. Cell Biol. (1996) [Pubmed]
  9. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Heath, K.E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L.E., Savige, J., Denison, J.C., Gregory, M.C., White, J.G., Barker, D.F., Greinacher, A., Epstein, C.J., Glucksman, M.J., Martignetti, J.A. Am. J. Hum. Genet. (2001) [Pubmed]
  10. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grünfeld, J.P., Palcoux, J.B., Gubler, M.C., Antignac, C. Am. J. Hum. Genet. (1998) [Pubmed]
  11. Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Knebelmann, B., Deschenes, G., Gros, F., Hors, M.C., Grünfeld, J.P., Zhou, J., Tryggvason, K., Gubler, M.C., Antignac, C. Am. J. Hum. Genet. (1992) [Pubmed]
  12. De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. Renieri, A., Seri, M., Myers, J.C., Pihlajaniemi, T., Massella, L., Rizzoni, G., De Marchi, M. Hum. Mol. Genet. (1992) [Pubmed]
  13. Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. Zhou, J., Hertz, J.M., Leinonen, A., Tryggvason, K. J. Biol. Chem. (1992) [Pubmed]
  14. Polypeptide fragments of the third component of complement in urine of hereditary nephritis patients. Chiu, F.J., Atkin, C.L. J. Immunol. (1985) [Pubmed]
  15. Structural-functional relationships in Alport syndrome. Kim, K.H., Kim, Y., Gubler, M.C., Steffes, M.W., Lane, P.H., Kashtan, C.E., Crosson, J.T., Mauer, S.M. J. Am. Soc. Nephrol. (1995) [Pubmed]
  16. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. Antignac, C., Knebelmann, B., Drouot, L., Gros, F., Deschênes, G., Hors-Cayla, M.C., Zhou, J., Tryggvason, K., Grünfeld, J.P., Broyer, M. J. Clin. Invest. (1994) [Pubmed]
  17. Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome. Neri, T.M., Zanelli, P., De Palma, G., Savi, M., Rossetti, S., Turco, A.E., Pignatti, G.F., Galli, L., Bruttini, M., Renieri, A., Mingarelli, R., Trivelli, A., Pinciaroli, A.R., Ragaiolo, M., Rizzoni, G.F., De Marchi, M. Hum. Mutat. (1998) [Pubmed]
  18. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. Martin, P., Heiskari, N., Zhou, J., Leinonen, A., Tumelius, T., Hertz, J.M., Barker, D., Gregory, M., Atkin, C., Styrkarsdottir, U., Neumann, H., Springate, J., Shows, T., Pettersson, E., Tryggvason, K. J. Am. Soc. Nephrol. (1998) [Pubmed]
  19. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Wang, F., Wang, Y., Ding, J., Yang, J. Kidney Int. (2005) [Pubmed]
  20. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., Reeders, S.T. Science (1993) [Pubmed]
  21. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. Heidet, L., Arrondel, C., Forestier, L., Cohen-Solal, L., Mollet, G., Gutierrez, B., Stavrou, C., Gubler, M.C., Antignac, C. J. Am. Soc. Nephrol. (2001) [Pubmed]
  22. Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. Nakazato, H., Hattori, S., Ushijima, T., Matsuura, T., Koitabashi, Y., Takada, T., Yoshioka, K., Endo, F., Matsuda, I. Kidney Int. (1994) [Pubmed]
  23. Splicing mutations in the COL4A5 gene in Alport's syndrome: different mRNA expression between leukocytes and fibroblasts. Nakazato, H., Hattori, S., Ushijima, T., Matsuura, T., Karashima, S., Uemura, T., Endo, F., Matsuda, I. Am. J. Kidney Dis. (1995) [Pubmed]
  24. The brainstem auditory evoked responses in Alport's syndrome. Di Paolo, B., Di Marco, T., Palmieri, P.F., Spisni, C., Albertazzi, A. Nephrol. Dial. Transplant. (1987) [Pubmed]
  25. The clinical spectrum of type IV collagen mutations. Lemmink, H.H., Schröder, C.H., Monnens, L.A., Smeets, H.J. Hum. Mutat. (1997) [Pubmed]
  26. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Longo, I., Porcedda, P., Mari, F., Giachino, D., Meloni, I., Deplano, C., Brusco, A., Bosio, M., Massella, L., Lavoratti, G., Roccatello, D., Frascá, G., Mazzucco, G., Muda, A.O., Conti, M., Fasciolo, F., Arrondel, C., Heidet, L., Renieri, A., De Marchi, M. Kidney Int. (2002) [Pubmed]
  27. Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome. Harvey, S.J., Zheng, K., Jefferson, B., Moak, P., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. Am. J. Pathol. (2003) [Pubmed]
  28. Gene delivery in renal tubular epithelial cells using recombinant adeno-associated viral vectors. Chen, S., Agarwal, A., Glushakova, O.Y., Jorgensen, M.S., Salgar, S.K., Poirier, A., Flotte, T.R., Croker, B.P., Madsen, K.M., Atkinson, M.A., Hauswirth, W.W., Berns, K.I., Tisher, C.C. J. Am. Soc. Nephrol. (2003) [Pubmed]
  29. Urinary insulin-like growth factors (IGF) and IGF-binding proteins in normal subjects, growth hormone deficiency, and renal disease. Gargosky, S.E., Hasegawa, T., Tapanainen, P., MacGillivray, M., Hasegawa, Y., Rosenfeld, R.G. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  30. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. van der Loop, F.T., Monnens, L.A., Schröder, C.H., Lemmink, H.H., Breuning, M.H., Timmer, E.D., Smeets, H.J. Kidney Int. (1999) [Pubmed]
  31. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. Inoue, Y., Nishio, H., Shirakawa, T., Nakanishi, K., Nakamura, H., Sumino, K., Nishiyama, K., Iijima, K., Yoshikawa, N. Am. J. Kidney Dis. (1999) [Pubmed]
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