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Basement membranes and human disease

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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.

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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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Acknowledgements

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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Authors and Affiliations

  1. Biomedical and Life Sciences, University of Glasgow, Davidson Building, University Avenue, Glasgow, UK

    Tom Van Agtmael

  2. Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104, Freiburg, Germany

    Leena Bruckner-Tuderman

  3. Freiburg Institute for Advanced Studies, Freiburg, Germany

    Leena Bruckner-Tuderman

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  1. Tom Van Agtmael
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Correspondence to Tom Van Agtmael or Leena Bruckner-Tuderman.

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T.V.A is sponsored by an MRC New Investigator Research Grant and L.B.-T. by the Excellence Initiative of the German Federal and State Governments (Freiburg Institute for Advanced Studies, FRIAS, School of Life Sciences), by the Network Epidermolysis Bullosa grant from the Federal Ministry for Education and Research (BMBF), and by Debra International.

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Van Agtmael, T., Bruckner-Tuderman, L. Basement membranes and human disease. Cell Tissue Res 339, 167–188 (2010). https://doi.org/10.1007/s00441-009-0866-y

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