A. López-Lera

发表

Complement as a diagnostic tool in immunopathology.

M. López-Trascasa, P. Sánchez-Corral, J. R. Regueiro, 2018, Seminars in cell & developmental biology.

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

F. Villarroya, F. Santini, G. Ceccarini, 2021, International journal of molecular sciences.

Immunological features of patients affected by Barraquer-Simons syndrome

F. Santini, G. Ceccarini, M. López-Trascasa, 2020, Orphanet Journal of Rare Diseases.

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy

M. López-Trascasa, D. Araújo-Vilar, A. López-Lera, 2018, Front. Immunol..

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

P. Soler-Palacín, M. López-Trascasa, C. Cámara, 2012, Orphanet Journal of Rare Diseases.

SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

S. Cichon, M. López-Trascasa, J. Pesquero, 2022, Frontiers in Allergy.

Human plasma C3 is essential for the development of memory B, but not T, lymphocytes.

S. Tangye, M. Kolev, S. Rodríguez de Córdoba, 2017, The Journal of allergy and clinical immunology.

Hereditary Angioedema: Insights into inflammation and allergy.

C. Maas, A. López-Lera, 2019, Molecular immunology.

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

A. Dopazo, M. López-Trascasa, A. López-Lera, 2013, Orphanet Journal of Rare Diseases.

Analysis of SERPING1 expression on hereditary angioedema patients: quantitative analysis of full-length and exon 3 splicing variants.

M. López-Trascasa, A. López-Lera, R. M. de la Cruz, 2012, Immunology letters.

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

M. López-Trascasa, I. Ibáñez de Cáceres, O. Pernía, 2014, Orphanet Journal of Rare Diseases.

Serum complexes between C1INH and C1INH autoantibodies for the diagnosis of acquired angioedema

A. López-Lera, P. Nozal, A. Bygum, 2019, Clinical and experimental immunology.

A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation.

M. López-Trascasa, C. Drouet, A. López-Lera, 2010, The Journal of allergy and clinical immunology.

SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes

M. López-Trascasa, C. Gaboriaud, Ineke G A Wagenaar-Bos, 2019, Human mutation.

Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.

M. López-Trascasa, H. Farkas, M. Maurer, 2018, Gene.

SERPING1 mutations in 59 families with hereditary angioedema.

M. López-Trascasa, O. Roche, A. López-Lera, 2011, Molecular immunology.

C1 inhibitor function using contact‐phase proteases as target: evaluation of an innovative assay

M. López-Trascasa, C. Drouet, F. Defendi, 2015, Allergy.

Hereditary angioedema caused by the p.Thr309Lys mutation in the F12 gene: a multifactorial disease.

M. López-Trascasa, C. Drouet, N. Prior, 2013, The Journal of allergy and clinical immunology.

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

M. Pedrosa, R. Cabañas, C. Drouet, 2021, Clinical Reviews in Allergy & Immunology.

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

M. López-Trascasa, J. Emsley, J. Corral, 2021, Clinical Reviews in Allergy & Immunology.

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

M. López-Trascasa, J. Emsley, J. Corral, 2020, Frontiers in Genetics.

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

J. Emsley, J. Corral, V. Vicente, 2020, Orphanet Journal of Rare Diseases.

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

M. López-Trascasa, M. Pedrosa, A. López-Lera, 2015, Journal of Clinical Immunology.

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

M. López-Trascasa, H. Onay, A. López-Lera, 2020, Immunology and cell biology.

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

A. López-Lera, M. Candela, A. de la Peña, 2004, Euphytica.

Molecular characterization of three new mutations causing C5 deficiency in two non-related families.

M. López-Trascasa, A. López-Lera, S. Garrido, 2009, Molecular immunology.

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

P. Soler-Palacín, M. López-Trascasa, F. Leturcq, 2012, Orphanet Journal of Rare Diseases.

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

P. Soler-Palacín, M. López-Trascasa, F. Leturcq, 2012, Orphanet Journal of Rare Diseases.

Inherited human ezrin deficiency impairs adaptive immunity.

J. Casanova, S. Sánchez-Ramón, R. Mena, 2023, The Journal of allergy and clinical immunology.

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

M. López-Trascasa, M. Pedrosa, A. López-Lera, 2015, Journal of Clinical Immunology.

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

M. López-Trascasa, Alberto López-Lera, Juan M Torres-Canizales, 2014, The Journal of investigative dermatology.

Complement as a Diagnostic tool

P. Sánchez-Corral, J. R. Regueiro, A. López-Lera, 2017 .

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

F. Santini, G. Ceccarini, M. López-Trascasa, 2022, Diabetes.