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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Journal Article
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
López-Gálvez, Raquel, de la Morena-Barrio, María Eugenia, López-Lera, Alberto, Pathak, Monika, Miñano, Antonia, Serrano, Mercedes, Borgel, Delphine, Roldán, Vanessa, Vicente, Vicente, Emsley, Jonas, Corral, Javier
Published in Orphanet journal of rare diseases (09.10.2020)
Published in Orphanet journal of rare diseases (09.10.2020)
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Journal Article
SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE
Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila L., Pesquero, João Bosco, Germenis, Anastasios E.
Published in Frontiers in allergy (31.03.2022)
Published in Frontiers in allergy (31.03.2022)
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Journal Article
Immunological features of patients affected by Barraquer-Simons syndrome
Corvillo, Fernando, Ceccarini, Giovanni, Nozal, Pilar, Magno, Silvia, Pelosini, Caterina, Garrido, Sofía, López-Lera, Alberto, Moraru, Manuela, Vilches, Carlos, Fornaciari, Silvia, Gabbriellini, Sabrina, Santini, Ferruccio, Araújo-Vilar, David, López-Trascasa, Margarita
Published in Orphanet journal of rare diseases (10.01.2020)
Published in Orphanet journal of rare diseases (10.01.2020)
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Journal Article
Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant
González-Sánchez, Laura, Agudo, Ana Mei, Van Den Rym, Anne, Begiristain, María Isabel, Saizar, Alazne, Pérez de Diego, Rebeca, Nozal, Pilar, López-Lera, Alberto, López-Trascasa, Margarita, Corvillo, Fernando
Published in Genes & diseases (01.11.2024)
Published in Genes & diseases (01.11.2024)
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Journal Article
Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families
Marcos, Carmen, MD, López Lera, Alberto, PhD, Varela, Susana, MD, Liñares, Tania, MD, Alvarez-Eire, Marimar G., MD, López-Trascasa, Margarita, PhD
Published in Annals of allergy, asthma, & immunology (01.09.2012)
Published in Annals of allergy, asthma, & immunology (01.09.2012)
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Journal Article
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion
Alba-Domínguez, María, López-Lera, Alberto, Garrido, Sofía, Nozal, Pilar, González-Granado, Ignacio, Melero, Josefa, Soler-Palacín, Pere, Cámara, Carmen, López-Trascasa, Margarita
Published in Orphanet journal of rare diseases (18.06.2012)
Published in Orphanet journal of rare diseases (18.06.2012)
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Journal Article
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
Inherited human ezrin deficiency impairs adaptive immunity
García-Solís, Blanca, Van Den Rym, Ana, Martinez-Martínez, Laura, Franco, Teresa, Pérez-Caraballo, Jareb J., Markle, Janet, Cubillos-Zapata, Carolina, Marín, Ana V., Recio, María J., Regueiro, José R., Navarro-Zapata, Alfonso, Mestre-Durán, Carmen, Ferreras, Cristina, Martín Cotázar, Carla, Mena, Roció, de la Calle-Fabregat, Carlos, López-Lera, Alberto, Fernández Arquero, Miguel, Pérez-Martínez, Antonio, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Casanova, Jean-Laurent, Martínez-Barricarte, Rubén, de la Calle-Martín, Oscar, Pérez de Diego, Rebeca
Published in Journal of allergy and clinical immunology (01.10.2023)
Published in Journal of allergy and clinical immunology (01.10.2023)
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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
Human plasma C3 is essential for the development of memory B, but not T, lymphocytes
Jiménez-Reinoso, Anaïs, Marin, Ana V., Subias, Marta, López-Lera, Alberto, Román-Ortiz, Elena, Payne, Kathryn, Ma, Cindy S., Arbore, Giuseppina, Kolev, Martin, Freeley, Simon J., Kemper, Claudia, Tangye, Stuart G., Fernández-Malavé, Edgar, Rodríguez de Córdoba, Santiago, López-Trascasa, Margarita, Regueiro, José R.
Published in Journal of allergy and clinical immunology (01.03.2018)
Published in Journal of allergy and clinical immunology (01.03.2018)
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Journal Article
International Consensus on the Use of Genetics in the Management of Hereditary Angioedema
Germenis, Anastasios E, Margaglione, Maurizio, Pesquero, João Bosco, Farkas, Henriette, Cichon, Sven, Csuka, Dorottya, Lera, Alberto López, Rijavec, Matija, Jolles, Stephen, Szilagyi, Agnes, Trascasa, Margarita López, Veronez, Camila Lopes, Drouet, Christian, Zamanakou, Maria
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.03.2020)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.03.2020)
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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