SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes
Ponard, Denise, Gaboriaud, Christine, Charignon, Delphine, Ghannam, Arije, Wagenaar‐Bos, Ineke G. A., Roem, Dorina, López‐Lera, Alberto, López‐Trascasa, Margarita, Tosi, Mario, Drouet, Christian
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N-acylethanolamines in patients with hereditary angioedema due to FXII mutation
Ferrara, Anne Lise, Palestra, Francesco, Piscitelli, Fabiana, Petraroli, Angelica, Suffritti, Chiara, Firinu, Davide, López-Lera, Alberto, Caballero, Teresa, Bork, Konrad, Spadaro, Giuseppe, Marone, Gianni, Di Marzo, Vincenzo, Bova, Maria, Loffredo, Stefania
Published in Allergy (Copenhagen) (27.06.2024)
Published in Allergy (Copenhagen) (27.06.2024)
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Journal Article
Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance
Mete Gökmen, Nihal, Rodríguez-Alcalde, César, Gülbahar, Okan, Lopez-Trascasa, Margarita, Onay, Hüseyin, López-Lera, Alberto
Published in Immunology and cell biology (01.09.2020)
Published in Immunology and cell biology (01.09.2020)
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Journal Article
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3B
Pouw, Richard B, Gómez Delgado, Irene, López Lera, Alberto, Rodríguez de Córdoba, Santiago, Wouters, Diana, Kuijpers, Taco W, Sánchez-Corral, Pilar
Published in Frontiers in immunology (24.04.2018)
Published in Frontiers in immunology (24.04.2018)
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Journal Article
Evidence of ongoing complement activation on adipose tissue from an 11‐year‐old girl with Barraquer–Simons syndrome
Corvillo, Fernando, Nozal, Pilar, López‐Lera, Alberto, De Miguel, María P., Piñero‐Fernández, Juan Alberto, De Lucas, Raúl, García‐Concepción, María D, Beato, María J., Araújo‐Vilar, David, López‐Trascasa, Margarita
Published in Journal of dermatology (01.12.2020)
Published in Journal of dermatology (01.12.2020)
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Journal Article
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy
Corvillo, Fernando, Aparicio, Verónica, López-Lera, Alberto, Garrido, Sofía, Araújo-Vilar, David, de Miguel, María P, López-Trascasa, Margarita
Published in Frontiers in immunology (19.09.2018)
Published in Frontiers in immunology (19.09.2018)
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Journal Article
The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant
Corvillo, Fernando, de la Morena-Barrio, María Eugenia, Marcos-Bravo, Carmen, López-Trascasa, Margarita, Vicente, Vicente, Emsley, Jonas, Caballero, Teresa, Corral, Javier, López-Lera, Alberto
Published in Frontiers in genetics (10.09.2020)
Published in Frontiers in genetics (10.09.2020)
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Journal Article
A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation
López-Lera, Alberto, MS, Favier, Bertrand, PhD, de la Cruz, Rocío Mena, MS, Garrido, Sofía, BS, Drouet, Christian, PhD, López-Trascasa, Margarita, PhD
Published in Journal of allergy and clinical immunology (01.12.2010)
Published in Journal of allergy and clinical immunology (01.12.2010)
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Journal Article
Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
Corvillo, Fernando, Abel, Brent S, López-Lera, Alberto, Ceccarini, Giovanni, Magno, Silvia, Santini, Ferruccio, Araújo-Vilar, David, Brown, Rebecca J, Nozal, Pilar, López-Trascasa, Margarita
Published in Diabetes (New York, N.Y.) (01.01.2023)
Published in Diabetes (New York, N.Y.) (01.01.2023)
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Journal Article
Complement as a diagnostic tool in immunopathology
López-Lera, Alberto, Corvillo, Fernando, Nozal, Pilar, Regueiro, José R., Sánchez-Corral, Pilar, López-Trascasa, Margarita
Published in Seminars in cell & developmental biology (01.01.2019)
Published in Seminars in cell & developmental biology (01.01.2019)
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Journal Article
Inherited Human BCL10 Deficiencies
Alsaidalani, Ashwag A., García-Solís, Blanca, Bukhari, Esraa, Van Den Rym, Ana, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Corvillo, Fernando, López-Lera, Alberto, de Andrés, Ana, Martínez-Barricarte, Rubén, Perez de Diego, Rebeca
Published in Journal of clinical immunology (01.01.2024)
Published in Journal of clinical immunology (01.01.2024)
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Journal Article
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency
Loli-Ausejo, David, López-Lera, Alberto, Drouet, Christian, Lluncor, Marina, Phillips-Anglés, Elsa, Pedrosa, María, Cabañas, Rosario, Caballero, Teresa
Published in Clinical reviews in allergy & immunology (01.08.2021)
Published in Clinical reviews in allergy & immunology (01.08.2021)
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Journal Article
SERPING1 mutations in 59 families with hereditary angioedema
López-Lera, Alberto, Garrido, Sofía, Roche, Olga, López-Trascasa, Margarita
Published in Molecular immunology (01.10.2011)
Published in Molecular immunology (01.10.2011)
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Journal Article
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency
Loules, Gedeon, Zamanakou, Maria, Parsopoulou, Faidra, Vatsiou, Sofia, Psarros, Fotis, Csuka, Dorottya, Porebski, Grzegorz, Obtulowicz, Krystyna, Valerieva, Anna, Staevska, Maria, López-Lera, Alberto, López-Trascasa, Margarita, Moldovan, Dumitru, Magerl, Markus, Maurer, Marcus, Speletas, Matthaios, Farkas, Henriette, Germenis, Anastasios E.
Published in Gene (15.08.2018)
Published in Gene (15.08.2018)
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Journal Article
Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)
Corvillo, Fernando, González-Sánchez, Laura, López-Lera, Alberto, Arjona, Emilia, Ceccarini, Giovanni, Santini, Ferruccio, Araújo-Vilar, David, Brown, Rebecca J, Villarroya, Joan, Villarroya, Francesc, Rodríguez de Córdoba, Santiago, Caballero, Teresa, Nozal, Pilar, López-Trascasa, Margarita
Published in International journal of molecular sciences (21.06.2021)
Published in International journal of molecular sciences (21.06.2021)
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