Gene Review:
COL4A4 - collagen, type IV, alpha 4
Homo sapiens
Synonyms:
CA44, Collagen alpha-4(IV) chain
Kashtan,
Longo,
Porcedda,
Mari,
Giachino,
Meloni,
Deplano,
Brusco,
Bosio,
Massella,
Lavoratti,
Roccatello,
Frascá,
Mazzucco,
Muda,
Conti,
Fasciolo,
Arrondel,
Heidet,
Renieri,
De Marchi,
Nomura,
Naito,
Fukushima,
Tokura,
Kataoka,
Tanaka,
Tanaka,
Osawa,
Heidet,
Borza,
Jouin,
Sich,
Mattei,
Sado,
Hudson,
Hastie,
Antignac,
Gubler,
Frascá,
Onetti-Muda,
Renieri,
Ciccarese,
Casu,
Ki Wong,
Faedda,
Arvidsson,
Tonolo,
Luthman,
Satta,
Cosgrove,
Samuelson,
Meehan,
Miller,
McGee,
Walsh,
Siegel,
- The clinical spectrum of type IV collagen mutations. Lemmink, H.H., Schröder, C.H., Monnens, L.A., Smeets, H.J. Hum. Mutat. (1997)
- 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)
- COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Buzza, M., Wang, Y.Y., Dagher, H., Babon, J.J., Cotton, R.G., Powell, H., Dowling, J., Savige, J. Kidney Int. (2001)
- Thin glomerular basement membrane disease. Frascá, G.M., Onetti-Muda, A., Renieri, A. J. Nephrol. (2000)
- Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. Lemmink, H.H., Nillesen, W.N., Mochizuki, T., Schröder, C.H., Brunner, H.G., van Oost, B.A., Monnens, L.A., Smeets, H.J. J. Clin. Invest. (1996)
- Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2. Kamagata, Y., Mattei, M.G., Ninomiya, Y. J. Biol. Chem. (1992)
- 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)
- A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice. Heidet, L., Borza, D.B., Jouin, M., Sich, M., Mattei, M.G., Sado, Y., Hudson, B.G., Hastie, N., Antignac, C., Gubler, M.C. Am. J. Pathol. (2003)
- Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan, C.E. Medicine (Baltimore) (1999)
- 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)
- Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Ciccarese, M., Casu, D., Ki Wong, F., Faedda, R., Arvidsson, S., Tonolo, G., Luthman, H., Satta, A. Nephrol. Dial. Transplant. (2001)
- Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Cosgrove, D., Samuelson, G., Meehan, D.T., Miller, C., McGee, J., Walsh, E.J., Siegel, M. Hear. Res. (1998)
- Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Mariyama, M., Zheng, K., Yang-Feng, T.L., Reeders, S.T. Genomics (1992)
- Clinical and molecular diagnosis of Alport syndrome. Kashtan, C.E. Proc. Assoc. Am. Physicians (1995)
- Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. Momota, R., Sugimoto, M., Oohashi, T., Kigasawa, K., Yoshioka, H., Ninomiya, Y. FEBS Lett. (1998)
- Molecular genetic and immunohistochemical study of autosomal recessive Alport's syndrome. Nomura, S., Naito, I., Fukushima, T., Tokura, T., Kataoka, N., Tanaka, I., Tanaka, H., Osawa, G. Am. J. Kidney Dis. (1998)
- Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Pescucci, C., Mari, F., Longo, I., Vogiatzi, P., Caselli, R., Scala, E., Abaterusso, C., Gusmano, R., Seri, M., Miglietti, N., Bresin, E., Renieri, A. Kidney Int. (2004)