Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant

Autor: Teresa Caballero, Javier Corral, Jonas Emsley, Alberto López-Lera, M.E. de la Morena-Barrio, V. Vicente, Antonia Miñano, Raquel López-Gálvez, Monika Pathak, C Marcos, Margarita López-Trascasa

Publikováno v: Clinical Reviews in Allergy & Immunology. 60:357-368

Hereditary angioedema due to pathogenic FXII variants (HAE-FXII) is a rare dominant disease caused by increased activation of the plasma contact system. The most prevalent HAE-FXII variant, c.1032C > A p.Thr309Lys (FXII309Lys), results in a smaller F

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21b47cb362f4cec0fd055af1054ec05b
https://doi.org/10.1007/s12016-021-08840-x

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When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista

Autor: Pablo Carbonell, Vicente Vicente, M.E. de la Morena-Barrio, José Padilla, B. de la Morena-Barrio, Frédéric Bauduer, Julio Esteban, Antonia Miñano, Javier Corral, Salam Salloum-Asfar

Publikováno v: Medical hypotheses. 141

The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deff500f58d277a1b7e9181a51a09772
https://pubmed.ncbi.nlm.nih.gov/32278893

Uniparental disomy causes deficiencies of vitamin K‐dependent proteins

Autor: Javier Corral, Vicente Vicente, M A Dasi, Juan Luis García, Nuria García-Barberá, S. Izquierdo, M.E. de la Morena-Barrio, Rocío González-Conejero, Jesús M. Hernández-Rivas, Jesus M Hernández-Sánchez, Bienvenida Argilés, José Padilla

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of thrombosis and haemostasis : JTH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpressio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d253c16f602e36e23449dc71670c6c
https://doi.org/10.1111/jth.13517

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