Journal ArticleDOI
A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.
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TLDR
These findings confirm the association between F12 gene mutations modifying the proline-rich region of the FXII protein and hereditary angioedema with normal C1-inhibitor.About:
This article is published in Clinical Immunology.The article was published on 2011-10-01. It has received 115 citations till now. The article focuses on the topics: Hereditary Angioedema Type III & Gene mutation.read more
Citations
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Journal ArticleDOI
Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group
Marco Cicardi,Werner Aberer,Aleena Banerji,Murat Bas,Jonathan A. Bernstein,Konrad Bork,Teresa Caballero,Henriette Farkas,Anete Sevciovic Grumach,Allen P. Kaplan,Marc A. Riedl,Massimo Triggiani,Andrea Zanichelli,Bruce L. Zuraw +13 more
TL;DR: Four types of acquired and three types of hereditary angioedema were identified as separate forms from the analysis of the literature and were presented in detail at the meeting.
Journal ArticleDOI
Hereditary angioedema with a mutation in the plasminogen gene
Konrad Bork,Karin Wulff,Lars Steinmüller-Magin,Ingrid Braenne,Petra Staubach-Renz,Günther Witzke,Jochen Hardt +6 more
TL;DR: This work sought to identify and characterize a hitherto unknown type of HAE with normal C1‐INH and without mutation in the F12 gene.
Journal ArticleDOI
Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel.
Bruce L. Zuraw,Konrad Bork,Karen Binkley,Aleena Banerji,Sandra C. Christiansen,Anthony J. Castaldo,Allen P. Kaplan,Marc A. Riedl,Charles H. Kirkpatrick,Markus Magerl,Christian Drouet,Marco Cicardi +11 more
TL;DR: Criteria were developed for the diagnosis of HAE with normal C1INH in patients with recurrent angioedema in the absence of concurrent urticaria and potential therapeutic strategies are discussed.
Journal ArticleDOI
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
Jenny Björkqvist,Steven de Maat,Urs Lewandrowski,Antonio Di Gennaro,Chris Oschatz,Kai Schönig,Markus M. Nöthen,Christian Drouet,Hal Braley,Marc W. Nolte,Albert Sickmann,Con Panousis,Coen Maas,Thomas Renné +13 more
TL;DR: The mechanism of HAE III is characterized and FXII inhibition is established as a potential therapeutic strategy to interfere with excessive vascular leakage in HAEIII and potentially alleviate edema due to other causes.
Journal ArticleDOI
Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations
Steven de Maat,Jenny Björkqvist,Jenny Björkqvist,Chiara Suffritti,Chantal P. Wiesenekker,Willem Nagtegaal,Arnold C. Koekman,Sanne van Dooremalen,Gerard Pasterkamp,Philip G. de Groot,Marco Cicardi,Thomas Renné,Thomas Renné,Coen Maas +13 more
TL;DR: A new pathway for bradykinin formation in patients with HAE is indicated, in which FXII is cleaved and activated by plasmin, which should lead to the identification of new markers for diagnosis and targets for treatment.
References
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Journal ArticleDOI
A simple salting out procedure for extracting DNA from human nucleated cells
TL;DR: A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.
Journal ArticleDOI
A biochemical abnormality in herediatry angioneurotic edema: absence of serum inhibitor of c' 1-esterase.
TL;DR: Evidence suggests that absence of serum inhibitor of C′1-esterase is an inherited abnormality in those with the familial type of angioneurotic edema, and this determination may permit identification of young family members who will have attacks of swelling later in life.
Journal ArticleDOI
Hereditary angioedema with normal C1-inhibitor activity in women.
TL;DR: An unusual variant of HAE with normal C1-inhibitor concentration and function represents a unique genetic disease arising only in women, suggestive of an X-linked dominant mode of inheritance.
Journal ArticleDOI
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
Georg Dewald,Konrad Bork +1 more
TL;DR: The predicted structural and functional impact of the mutations, their absence in 145 healthy controls, and their co-segregation with the phenotype in five families provide strong support that they cause disease.
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Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
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