Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alejandro Garcia-Castaño"'
Autor:
Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0177329 (2017)
BACKGROUND AND OBJECTIVES:Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. MATERIALS AND METHODS:This
Externí odkaz:
https://doaj.org/article/c07388da92ac41fdb4947c4ddf2f7a24
Autor:
Mirella Zulueta, Josu Aurrekoetxea, Leire Mendizabal, Sonia Gaztambide, Maddi Arregi, Ana Belén Hoz, Eunate Arana-Arri, Laura Saso, Sara Gomez-Conde, Rosa Martinez-Salazar, Inés Urrutia, Mirian Sanchez-Moran, Alejandro Garcia-Castaño, Gustavo Pérez-Nanclares, Olaia Velasco, Begoña Calvo, Laureano Simon, Luis Castaño
Risk stratification for adults infected with SARS-CoV-2 COVID-19 continues to be essential to inform decisions about individual patients and allocation of resources and treatment options. Accurate knowledge of individual risk of severe COVID-19 can m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf3526aa6bffcf89f25b35b5d98e4a6d
https://doi.org/10.21203/rs.3.rs-2015865/v1
https://doi.org/10.21203/rs.3.rs-2015865/v1
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionThe disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory findin
Externí odkaz:
https://doaj.org/article/51578622940e427eba478d487f7ac7a3
Autor:
Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping
Externí odkaz:
https://doaj.org/article/0ac1cc5ac3334835ae6db97c8261d02f
Autor:
Dominik N. Müller, Maria Morawietz, Dominique Bazin, Suzanne Menashi, Alain Schmitt, Jean Marc Massé, Marie Lucile Figueres, Agnès Linglart, Francisco de Assis Rocha Neves, Jianghui Hou, Rosa Vargas-Poussou, Ana Carolina Acevedo, Frédéric Courson, Dominique Le Denmat, Alejandro Garcia-Castaño, Matthias Petzold, Delphine Zenaty, Ariane Berdal, Julia Thumfart, Renato Demontis, Andreas Kiesow, Yong Wu, Maria Cristina Manzanares, Jean Christophe Fricain, Catherine Chaussain, Claire Bardet, Patricia Carvalho-Lobato, Georg Lorenz, Benoit Vallée, Sandy Ribes, Paulo Marcio Yamaguti, Mayssam Khaddam, Brigitte Baroukh, Deborah Talmud, Pascal Houillier, Thomas Guilbert, Benjamin Salmon, Tilman Breiderhoff, Gaël Y. Rochefort
Publikováno v:
Journal of Bone and Mineral Research. 31:498-513
Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b809f0cf3dd1cbae6a92985a7abe2c0d
https://doi.org/10.1002/jbmr.2726
https://doi.org/10.1002/jbmr.2726
Autor:
Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Publikováno v:
Nefrología, Vol 41, Iss 4, Pp 383-390 (2021)
Resumen: La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica hiperclorémica persistente,
Externí odkaz:
https://doaj.org/article/b0de981a861c4d99b9bc3fc0e4562687
Autor:
Sara Gómez-Conde, Alejandro García-Castaño, Mireia Aguirre, María Herrero, Leire Gondra, Luis Castaño, Leire Madariaga
Publikováno v:
Nefrología (English Edition), Vol 41, Iss 4, Pp 383-390 (2021)
Distal renal tubular acidosis (DRTA) is a rare disease resulting from a failure in the normal urine acidification process at the distal tubule and collecting duct level. It is characterised by persistent hyperchloremic metabolic acidosis, with a norm
Externí odkaz:
https://doaj.org/article/99e2cf3a1a794fe3bb4192593d0ec367
Autor:
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Carmen Lourdes Rey Cordo, María López-Iglesias, Yolanda Garcia-Fernández, Alicia Martín, Pedro González, Ignacio Goicolea, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Idoia Martínez de LaPiscina, Rosa Martínez, Laura Saso, Inés Urrutia, Olaia Velasco, Luis Castaño, Sonia Gaztambide
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the parathyroid cells. A cohort of 127 Spanish patients with a disorder
Externí odkaz:
https://doaj.org/article/21ec769fee1348db929c1757673e7caa
Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
Autor:
Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, Luis Castaño
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2018)
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion a
Externí odkaz:
https://doaj.org/article/bdc46244501e4e9bb1bdb94e26bcc9a3
Autor:
Alejandro García‐Castaño, Ana Perdomo‐Ramirez, Mònica Vall‐Palomar, Elena Ramos‐Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie‐Martin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chroni
Externí odkaz:
https://doaj.org/article/bceb1a725ee9429f978d8a8b1efc301d