Works by López Lera, Alberto

Results: 24

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 38, doi. 10.1002/humu.23917

By:

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

Publication type:

Article

Corrigendum: High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3 <sup>*</sup> B.

Published in:

2020

By:

Pouw, Richard B.;
Gómez Delgado, Irene;
López Lera, Alberto;
Rodríguez de Córdoba, Santiago;
Wouters, Diana;
Kuijpers, Taco W.;
Sánchez-Corral, Pilar

Publication type:

Correction Notice

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02142

By:

Corvillo, Fernando;
Aparicio, Verónica;
López-Lera, Alberto;
Garrido, Sofía;
Araújo-Vilar, David;
de Miguel, María P.;
López-Trascasa, Margarita

Publication type:

Article

High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00848

By:

Pouw, Richard B.;
Gómez Delgado, Irene;
López Lera, Alberto;
Rodríguez de Córdoba, Santiago;
Wouters, Diana;
Kuijpers, Taco W.;
Sánchez-Corral, Pilar

Publication type:

Article

Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0103-y

By:

López-Lera, Alberto;
Pernia, Olga;
López-Trascasa, Margarita;
de Caceres, Inmaculada Ibanez

Publication type:

Article

Expression of the SERPING1 gene is not regulated by promoter hypermethylation in peripheral blood mononuclear cells from patients with hereditary angioedema due to C1-inhibitor deficiency.

Published in:

2014

By:

López-Lera, Alberto;
Pernia, Olga;
López-Trascasa, Margarita;
Ibanez de Caceres, Inmaculada

Publication type:

journal article

Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-77

By:

López-Lera, Alberto;
Sánchez Cabo, Fátima;
Garrido, Sofía;
Dopazo, Ana;
López-Trascasa, Margarita

Publication type:

Article

Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

Published in:

2013

By:

López-Lera, Alberto;
Cabo, Fátima Sánchez;
Garrido, Sofía;
Dopazo, Ana;
López-Trascasa, Margarita

Publication type:

journal article

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

Published in:

2012

By:

Alba-Domínguez, María;
López-Lera, Alberto;
Garrido, Sofía;
Nozal, Pilar;
González-Granado, Ignacio;
Melero, Josefa;
Soler-Palacín, Pere;
Cámara, Carmen;
López-Trascasa, Margarita

Publication type:

journal article

Altered levels of phospholipases C, diacylglycerols, endocannabinoids, and N‐acylethanolamines in patients with hereditary angioedema due to FXII mutation.

Published in:

Allergy, 2025, v. 80, n. 1, p. 287, doi. 10.1111/all.16197

By:

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

Publication type:

Article

Analysis of natural allelic variation in in vitro organogenesis of Arabidopsis thaliana.

Published in:

Euphytica, 2004, v. 137, n. 1, p. 73

By:

Velázquez, Ignacio;
Valencia, Silvia;
López-Lera, Alberto;
Peña, Alicia de la;
Candela, Milagros

Publication type:

Article

Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.

Published in:

Clinical Reviews in Allergy & Immunology, 2025, v. 68, n. 1, p. 1, doi. 10.1007/s12016-025-09027-4

By:

Zuraw, Bruce L.;
Bork, Konrad;
Bouillet, Laurence;
Christiansen, Sandra C.;
Farkas, Henriette;
Germenis, Anastasios E.;
Grumach, Anete S.;
Kaplan, Allen;
López-Lera, Alberto;
Magerl, Markus;
Riedl, Marc A.;
Adatia, Adil;
Banerji, Aleena;
Betschel, Stephen;
Boccon-Gibod, Isabelle;
Bova, Maria;
Boysen, Henrik Balle;
Caballero, Teresa;
Cancian, Mauro;
Castaldo, Anthony J.

Publication type:

Article

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.

Published in:

Clinical Reviews in Allergy & Immunology, 2021, v. 61, n. 1, p. 1, doi. 10.1007/s12016-021-08834-9

By:

Loli-Ausejo, David;
López-Lera, Alberto;
Drouet, Christian;
Lluncor, Marina;
Phillips-Anglés, Elsa;
Pedrosa, María;
Cabañas, Rosario;
Caballero, Teresa

Publication type:

Article

Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 4, p. 1152, doi. 10.1038/jid.2013.444

By:

López-Lera, Alberto;
M. Torres-Canizales, Juan;
Garrido, Sofía;
Morales, Adelaida;
López-Trascasa, Margarita

Publication type:

Article

Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance.

Published in:

Immunology & Cell Biology, 2020, v. 98, n. 8, p. 693, doi. 10.1111/imcb.12362

By:

Mete Gökmen, Nihal;
Rodríguez‐Alcalde, César;
Gülbahar, Okan;
Lopez‐Trascasa, Margarita;
Onay, Hüseyin;
López‐Lera, Alberto

Publication type:

Article

Pathophysiology and underlying mechanisms in hereditary angioedema.

Published in:

Balkan Medical Journal, 2021, v. 38, n. 2, p. 82, doi. 10.4274/balkanmedj.galenos.2020.2020.10.166

By:

López Lera, Alberto

Publication type:

Article

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

Published in:

2020

By:

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

Publication type:

journal article

Correction to: Immunological features of patients affected by Barraquer-Simons syndrome.

Published in:

2020

By:

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

Publication type:

corrected article

Immunological features of patients affected by Barraquer-Simons syndrome.

Published in:

2020

By:

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

Publication type:

journal article

Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy.

Published in:

Diabetes, 2023, v. 72, n. 1, p. 71, doi. 10.2337/db21-1086

By:

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

Publication type:

Article

Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome).

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6608, doi. 10.3390/ijms22126608

By:

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

Publication type:

Article

The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.01033

By:

Corvillo, Fernando;
Morena-Barrio, María Eugenia de la;
Marcos-Bravo, Carmen;
López-Trascasa, Margarita;
Vicente, Vicente;
Emsley, Jonas;
Caballero, Teresa;
Corral, Javier;
López-Lera, Alberto

Publication type:

Article

Inherited Human BCL10 Deficiencies.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01619-z

By:

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

Publication type:

Article

Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

Published in:

2016

By:

Pedrosa, María;
Phillips-Angles, Elsa;
López-Lera, Alberto;
López-Trascasa, Margarita;
Caballero, Teresa

Publication type:

Letter