Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor
作者： Adriana S. Moreno , Solange O.R. Valle , Soloni Levy , Alfeu T. França , Faradiba S. Serpa
DOI: 10.1159/000376547
关键词:
摘要: Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been iden
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sci-hub.se 参考文章(40)
Allen P. Kaplan, Kusumam Joseph, Pathogenic mechanisms of bradykinin mediated diseases: dysregulation of an innate inflammatory pathway Advances in Immunology. ,vol. 121, pp. 41- 89 ,(2014) , 10.1016/B978-0-12-800100-4.00002-7
ML Baeza, A Rodríguez‐Marco, A Prieto, C Rodríguez‐Sainz, JM Zubeldia, M Rubio, None, Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III. Allergy. ,vol. 66, pp. 981- 982 ,(2011) , 10.1111/J.1398-9995.2011.02562.X
V. Vitrat-Hincky, A. Gompel, C. Dumestre-Perard, I. Boccon-Gibod, C. Drouet, J. Y. Cesbron, J. Lunardi, C. Massot, L. Bouillet, Type III hereditary angio-oedema: clinical and biological features in a French cohort Allergy. ,vol. 65, pp. 1331- 1336 ,(2010) , 10.1111/J.1398-9995.2010.02368.X
L. K. Arruda, M. F. Ferraro, A. S. Moreno, E. C. Castelli, E. A. Donadi, M. S. Palma, H. A. Arcuri, A. P. Lange, K. Bork, W. Sarti, A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family. Allergy. ,vol. 66, pp. 1384- 1390 ,(2011) , 10.1111/J.1398-9995.2011.02658.X
M. Maurer, M. Bader, M. Bas, F. Bossi, M. Cicardi, M. Cugno, P. Howarth, A. Kaplan, G. Kojda, F. Leeb-Lundberg, J. Lötvall, M. Magerl, New topics in bradykinin research Allergy. ,vol. 66, pp. 1397- 1406 ,(2011) , 10.1111/J.1398-9995.2011.02686.X
Giuliano Di Pietro, Mateus Fuchshuber-Moraes, Julia Pasqualini Genro, Mara H. Hutz, Fernanda de Souza Gomes Kehdy, Fabiana Kohlrausch, Luiz Alexandre Viana Magno, Raquel Carvalho Montenegro, Manoel Odorico Moraes, Maria Elisabete Amaral de Moraes, Milene Raiol de Moraes, Élida B. Ojopi, Jamila A. Perini, Clarice Racciopi, Ândrea Kely Campos Ribeiro-dos-Santos, Fabrício Rios-Santos, Marco A. Romano-Silva, Vinicius A. Sortica, Guilherme Suarez-Kurtz, The Genomic Ancestry of Individuals from Different Geographical Regions of Brazil Is More Uniform Than Expected PLoS ONE. ,vol. 6, pp. e17063- ,(2011) , 10.1371/JOURNAL.PONE.0017063
Thomas Renné, Alvin H. Schmaier, Katrin F. Nickel, Margareta Blombäck, Coen Maas, In vivo roles of factor XII. Blood. ,vol. 120, pp. 4296- 4303 ,(2010) , 10.1182/BLOOD-2012-07-292094
Coen Maas, Thomas Renné, Regulatory mechanisms of the plasma contact system Thrombosis Research. ,vol. 129, ,(2012) , 10.1016/J.THROMRES.2012.02.039
Emanuela Pappalardo, Lorenza C. Zingale, Marco Cicardi, Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol. Immunology Letters. ,vol. 86, pp. 271- 276 ,(2003) , 10.1016/S0165-2478(03)00029-4
R. A. Laskowski, M. W. MacArthur, D. S. Moss, J. M. Thornton, PROCHECK: a program to check the stereochemical quality of protein structures Journal of Applied Crystallography. ,vol. 26, pp. 283- 291 ,(1993) , 10.1107/S0021889892009944