Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Inés Urrutia"'
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, 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
Autor:
Inés Urrutia, Alicia Martín-Nieto, Rosa Martínez, J Oriol Casanovas-Marsal, Anibal Aguayo, Juan del Olmo, Eunate Arana, Elsa Fernandez-Rubio, Luis Castaño, Sonia Gaztambide, The Diabetes Epidemiology Group
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous prevalence study, 847
Externí odkaz:
https://doaj.org/article/ee747fc8f94b4c69b730816d1dda7ae4
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:
Idoia Martínez de LaPiscina, Laura C. Hernández-Ramírez, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Sonia Gaztambide, Fabio R. Faucz, Margaret F. Keil, Maya B. Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, James L. Mills, Luis Castaño, Constantine A. Stratakis
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotrop
Externí odkaz:
https://doaj.org/article/7952312d0762446d886aba3902769a4f
Autor:
Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239965 (2020)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among t
Externí odkaz:
https://doaj.org/article/b8b1aa634ed94a4ca2afd90db1a7a014
Autor:
Inés Urrutia, Rosa Martínez, Itxaso Rica, Idoia Martínez de LaPiscina, Alejandro García-Castaño, Anibal Aguayo, Begoña Calvo, Luis Castaño, Spanish Pediatric Diabetes Collaborative Group
Publikováno v:
PLoS ONE, Vol 14, Iss 7, p e0220634 (2019)
ObjectiveMonogenic diabetes can be misdiagnosed as type 1 or type 2 diabetes in children. The right diagnosis is crucial for both therapeutic choice and prognosis and influences genetic counseling. The main objective of this study was to search for m
Externí odkaz:
https://doaj.org/article/8321d8896cd846b283b584c5e0bb51e0
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:
Inés Urrutia, Rosa Martínez, Tamara López-Euba, Teresa Velayos, Idoia Martínez de LaPiscina, José Ramón Bilbao, Itxaso Rica, Luis Castaño, Spanish Group for the Study of MODY and Type 1 diabetes
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169389 (2017)
The aim of this study was to determine the frequency of susceptible HLA-DRB1 alleles for type 1 diabetes in a cohort of pediatric patients with a confirmed genetic diagnosis of MODY.160 families with a proband diagnosed with type 1 diabetes and 74 fa
Externí odkaz:
https://doaj.org/article/912ad77800c645248a056121e6dd7a56
Autor:
Leire Madariaga, Amaia Vela, Luis Castaño, Inés Urrutia, Itxaso Rica, Sonia Gaztambide, Gustavo Pérez de Nanclares, Alejandro García-Castaño, Rosa de Diego Martínez, Olaia Velasco, Idoia Martínez de LaPiscina, Anibal Aguayo
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:1112-1118
Context Familial neurohypophyseal diabetes insipidus is a rare disease produced by a deficiency in the secretion of antidiuretic hormone and is caused by mutations in the arginine vasopressin gene. Objective Clinical, biochemical, and genetic charact