Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype

Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype

Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms 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...

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Bibliographic Details
Main Authors: Maria Rita Passos-Bueno, Oscar T. Suzuki, Lucia M. Armelin-Correa, Andréa L. Sertié, Flavia I.V. Errera, Kelly Bagatini, Fernando Kok, Katia R.M. Leite
Format: Article
Language:English
Published: Academia Brasileira de Ciências 2006-03-01
Series:Anais da Academia Brasileira de Ciências
Subjects:
COL18A1
colágeno XVIII
síndrome de Knobloch
desenvolvimento ocular
migração de célula neuronal
craniossinostoses
polimorfismos
D1437N
collagen XVIII
Knobloch syndrome
eye development
neuronal cell migration
craniosynostosis
polymorphisms
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012

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