Cell and Tissue Research

, 339:167

Basement membranes and human disease

Review

Abstract

In 1990, the role of basement membranes in human disease was established by the identification of COL4A5 mutations in Alport’s syndrome. Since then, the number of diseases caused by mutations in basement membrane components has steadily increased as has our understanding of the roles of basement membranes in organ development and function. However, many questions remain as to the molecular and cellular consequences of these mutations and the way in which they lead to the observed disease phenotypes. Despite this, exciting progress has recently been made with potential treatment options for some of these so far incurable diseases.

Keywords

Basement membrane Laminin Collagen Nidogen 

Abbreviations

BM

basement membrane

DDR1

discoidin domain receptor I

DDSH

dyssegmental dysplasia Silverman-Handmaker type

DEJ

dermal-epidermal junction

EB

epidermolysis bullosa

ER

endoplasmic reticulum

GBM

glomerular basement membrane

NMJ

neuromuscular junction

SJS

Schwartz-Jampel syndrome

VEGF

vascular endothelial growth factor

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Biomedical and Life SciencesUniversity of GlasgowGlasgowUK
  2. 2.Department of DermatologyUniversity Medical Center FreiburgFreiburgGermany
  3. 3.Freiburg Institute for Advanced StudiesFreiburgGermany

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