Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Alberto López-Lera"'
Autor:
Laura González-Sánchez, Ana Mei Agudo, Anne Van Den Rym, María Isabel Begiristain, Alazne Saizar, Rebeca Pérez de Diego, Pilar Nozal, Alberto López-Lera, Margarita López-Trascasa, Fernando Corvillo
Publikováno v:
Genes and Diseases, Vol 11, Iss 6, Pp 101134- (2024)
Externí odkaz:
https://doaj.org/article/8a388bb92dd549019242b55e0943e00f
Autor:
Christian Drouet, Alberto López-Lera, Arije Ghannam, Margarita López-Trascasa, Sven Cichon, Denise Ponard, Faidra Parsopoulou, Hana Grombirikova, Tomáš Freiberger, Matija Rijavec, Camila L. Veronez, João Bosco Pesquero, Anastasios E. Germenis
Publikováno v:
Frontiers in Allergy, Vol 3 (2022)
Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene (n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and p
Externí odkaz:
https://doaj.org/article/e85a9382b14b477ba2a0dacd75879689
Autor:
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of the contact phase, has
Externí odkaz:
https://doaj.org/article/4bb121c4421d4dd596db13a4bed5ae77
Autor:
Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (BSS), an acquired for
Externí odkaz:
https://doaj.org/article/a0286d5c92324b9698ac45f6544d6096
Autor:
Fernando Corvillo, María Eugenia de la Morena-Barrio, Carmen Marcos-Bravo, Margarita López-Trascasa, Vicente Vicente, Jonas Emsley, Teresa Caballero, Javier Corral, Alberto López-Lera
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundHereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging
Externí odkaz:
https://doaj.org/article/8c501be6821e43969c9be71be3b16b1b
Autor:
Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-1 (2020)
Following the publication of the original article [1], the authors have requested to amend the Abstract and Discussion section as follows.
Externí odkaz:
https://doaj.org/article/8c6561c987144b70910d7a50dfabeb72
Autor:
Fernando Corvillo, Verónica Aparicio, Alberto López-Lera, Sofía Garrido, David Araújo-Vilar, María P. de Miguel, Margarita López-Trascasa
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by an altered distribution of adipose tissue and predisposition to develop hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Diagnosis of AGL is based on the
Externí odkaz:
https://doaj.org/article/5c5152614e7f4909aa0bc9b0b6f27aaa
Autor:
Fernando Corvillo, Brent S. Abel, Alberto López-Lera, Giovanni Ceccarini, Silvia Magno, Ferruccio Santini, David Araújo-Vilar, Rebecca J. Brown, Pilar Nozal, Margarita López-Trascasa
Acquired generalized lipodystrophy (AGL) is a rare condition characterized by massive loss of adipose tissue through the body, causing severe metabolic complications. Autoimmune destruction of adipocytes is strongly suspected based on the frequent as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1493ed07e7ce654e694de34f87812088
https://doi.org/10.2337/figshare.20163935.v1
https://doi.org/10.2337/figshare.20163935.v1
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
https://doi.org/10.1007/s12016-021-08840-x
Autor:
Alberto López Lera
Publikováno v:
Balkan Medical Journal, Vol 38, Iss 2, Pp 82-88 (2021)
This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss of con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c02b2a11fa4600e766fe85dfd8a9cf
https://balkanmedicaljournal.org/en/pathophysiology-and-underlying-mechanisms-in-hereditary-angioedema-133770
https://balkanmedicaljournal.org/en/pathophysiology-and-underlying-mechanisms-in-hereditary-angioedema-133770