Literature DB >> 25524745

Idiopathic angioedema with F12 mutation: is it a new entity?

Aslı Gelincik1, Semra Demir2, Müge Olgaç2, Volkan Karaman3, Güven Toksoy3, Bahattin Çolakoğlu2, Suna Büyüköztürk2, Zehra Oya Uyguner3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25524745     DOI： 10.1016/j.anai.2014.11.018

Source DB:  PubMed          Journal:  Ann Allergy Asthma Immunol        ISSN： 1081-1206            Impact factor:   6.347


× No keyword cloud information.
  6 in total

1.  A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.

Authors:  Zonne L M Hofman; Chantal C Clark; Wariya Sanrattana; Aziz Nosairi; Naomi M J Parr; Minka Živkovic; Karoline Krause; Niklas A Mahnke; Jörg Scheffel; C Erik Hack; Marcus Maurer; Steven de Maat; Coen Maas
Journal:  J Biol Chem       Date:  2019-11-26       Impact factor: 5.157

Review 2.  Genetics of Hereditary Angioedema Revisited.

Authors:  Anastasios E Germenis; Matthaios Speletas
Journal:  Clin Rev Allergy Immunol       Date:  2016-10       Impact factor: 8.667

3.  A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.

Authors:  Evelina Siavrienė; Gunda Petraitytė; Violeta Mikštienė; Tautvydas Rančelis; Živilė Maldžienė; Aušra Morkūnienė; Jekaterina Byčkova; Algirdas Utkus; Vaidutis Kučinskas; Eglė Preikšaitienė
Journal:  BMC Med Genet       Date:  2019-07-17       Impact factor: 2.103

4.  Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.

Authors:  Raquel López-Gálvez; María Eugenia de la Morena-Barrio; Alberto López-Lera; Monika Pathak; Antonia Miñano; Mercedes Serrano; Delphine Borgel; Vanessa Roldán; Vicente Vicente; Jonas Emsley; Javier Corral
Journal:  Orphanet J Rare Dis       Date:  2020-10-09       Impact factor: 4.123

Review 5.  The Search for Biomarkers in Hereditary Angioedema.

Authors:  Allen P Kaplan; Coen Maas
Journal:  Front Med (Lausanne)       Date:  2017-11-22

Review 6.  Bradykinin: Inflammatory Product of the Coagulation System.

Authors:  Zonne Hofman; Steven de Maat; C Erik Hack; Coen Maas
Journal:  Clin Rev Allergy Immunol       Date:  2016-10       Impact factor: 8.667
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.