Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype
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| Natura: | Artículo científico |
| Lingua: | en |
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Academia Brasileira de Ciências
2006
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| author | Katia R. M. Leite |
| author_facet | Katia R. M. Leite |
| contents | Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype Katia R. M. Leite Lucia M. Armelin-Correa Flavia I. V. Errera Kelly Bagatini Fernando Kok Maria Rita Passos-Bueno Oscar T. Suzuki André L. Sertié Multidisciplinaria (Ciencias Naturales y Exactas) D1437N COL18A1 polymorphisms collagen XVIII eye development Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinctisoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression.Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is afrizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome(KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipitalencephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype,showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null allelescausing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. Thisreview besides illustrating the functional importance of collagen XVIII in eye development and its structuremaintenance throughout life, it also shows its role in other tissues and organs, such as nervous system andkidney. 2006 artículo científico 0001-3765 https://www.redalyc.org/articulo.oa?id=32778112 en http://www.redalyc.org/revista.oa?id=327 Anais da Academia Brasileira de Ciências application/pdf Academia Brasileira de Ciências Anais da Academia Brasileira de Ciências (Brasil) Num.1 Vol.78 |
| format | Artículo científico |
| id | redalyc_32778112 |
| institution | Redalyc |
| language | en |
| publishDate | 2006 |
| publisher | Academia Brasileira de Ciências |
| spellingShingle | Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype Katia R. M. Leite Multidisciplinaria (Ciencias Naturales y Exactas) D1437N COL18A1 polymorphisms collagen XVIII eye development Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype Katia R. M. Leite Lucia M. Armelin-Correa Flavia I. V. Errera Kelly Bagatini Fernando Kok Maria Rita Passos-Bueno Oscar T. Suzuki André L. Sertié Multidisciplinaria (Ciencias Naturales y Exactas) D1437N COL18A1 polymorphisms collagen XVIII eye development Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinctisoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression.Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is afrizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome(KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipitalencephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype,showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null allelescausing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. Thisreview besides illustrating the functional importance of collagen XVIII in eye development and its structuremaintenance throughout life, it also shows its role in other tissues and organs, such as nervous system andkidney. 2006 artículo científico 0001-3765 https://www.redalyc.org/articulo.oa?id=32778112 en http://www.redalyc.org/revista.oa?id=327 Anais da Academia Brasileira de Ciências application/pdf Academia Brasileira de Ciências Anais da Academia Brasileira de Ciências (Brasil) Num.1 Vol.78 |
| title | Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype |
| topic | Multidisciplinaria (Ciencias Naturales y Exactas) D1437N COL18A1 polymorphisms collagen XVIII eye development |
| url | https://www.redalyc.org/articulo.oa?id=32778112 |