Cell and Tissue Research

, 339:167 | Cite as

Basement membranes and human disease



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.


Basement membrane Laminin Collagen Nidogen 



basement membrane


discoidin domain receptor I


dyssegmental dysplasia Silverman-Handmaker type


dermal-epidermal junction


epidermolysis bullosa


endoplasmic reticulum


glomerular basement membrane


neuromuscular junction


Schwartz-Jampel syndrome


vascular endothelial growth factor



We thank N. Gray for critical reading of the manuscript and T. Pinner for assistance with generating the figures. We apologize to our colleagues whose publications we could not cite because of space limitations.


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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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