.................................................vi LIST OF FIGURES .......................................... vii LIST OF TABLES ........................................... vii CHAPTER 1................................................

.................................................................................................................... iii ACKNOWLEDGMENTS.................................................................................................. v DEDICATION ..................................................................................................................vi LIST OF TABLES.....................

....................................................................... iii Enkel sammanfattning på svenska .................................. v List of Publications ...................................................... vii Abbreviations ............................................................. vii

........................................................................................................................................ ii Acknowledgments ....................................................................................................................... iv List of Tables ..........................................................................................................

..............................................................................................iv ACKNOWLEDGEMENTS.............................................................................v LIST OF FIGURES......................................................................................vii LIST OF TABLES......................................................................................vii

Dominant-negative interference by glycine substitution mutations in the COL7A1 gene causes dominant dystrophic epidermolysis bullosa (DDEB), a skin fragility disorder with mechanically induced blistering. Although qualitative and quantitative alterations of the COL7A1 gene product, collagen VII, underlie DDEB, the lack of direct correlation between mutations and the clinical phenotype has rende...

Collagen VII is the major structural constituent of anchoring fibrils in the skin. It is synthesized as a procollagen that is larger than the collagen deposited in the tissue. In this study, we investigated the conversion of procollagen VII to collagen VII in human skin and in cutaneous cells in vitro and identified the propeptide using domain-specific antibodies. For this purpose, two bacteria...

Factor VII clotting activity increases about five-fold when blood is clotted in glass. Prior studies suggested that this results from activation induced by activated factor IX (IXa). However, in purified systems containing phospholipid and calcium, activated factor X (Xa) is known to activate factor VII rapidly. Therefore, we studied activation of factor VII by IXa and X, in systems using purif...

OF THE DISSERTATION .......................................................................................... ii COMMITTEE ................................................................................................................................ v TABLE OF CONTENTS ................................................................................................................ vi LIST OF ...

Background: Coagulation Factor VII is a vitamin K-dependent serine protease which has a pivotal role in the initiation of the coagulation cascade. The congenital Factor VII deficiency is a recessive hemorrhagic disorder that occurs due to mutations of F7 gene. In the present study C91S (p.C91S) substitution was detected in a patient with FVII deficiency. This mutation has not b...