Progress in Heritable Soft Connective Tissue Diseases

  • Jaroslava Halper

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)

Table of contents

  1. Front Matter
    Pages i-viii
  2. Jaroslava Halper
    Pages 1-3
  3. Michael J. Mienaltowski, David E. Birk
    Pages 5-29
  4. Jaroslava Halper
    Pages 49-58
  5. Jason R. Cook, Francesco Ramirez
    Pages 77-94
  6. Lut Van Laer, Harry Dietz, Bart Loeys
    Pages 95-105
  7. Fransiska Malfait, Anne De Paepe
    Pages 129-143
  8. Noriko Miyake, Tomoki Kosho, Naomichi Matsumoto
    Pages 145-159
  9. Miski Mohamed, Michiel Voet, Thatjana Gardeitchik, Eva Morava
    Pages 161-184
  10. Kate M. D. Bushby, James Collins, Debbie Hicks
    Pages 185-199
  11. Michael J. Mienaltowski, David E. Birk
    Pages 201-230
  12. Jaroslava Halper
    Pages 231-240
  13. Back Matter
    Pages 241-245

About this book


This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them.

Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers.  Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues.

This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.


Ehlers-Danlos syndrome Marfan syndrome aorta and cardiac valves tendons and ligaments transforming growth factor beta

Editors and affiliations

  • Jaroslava Halper
    • 1
  1. 1.Department of PathologyThe University of GeorgiaAthensUSA

Bibliographic information

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