BackBrowsing Artículos by Author "Urrutia, Inés"
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Five Patients with Disorders of Calcium Metabolism Presented with GCM2 Gene Variants
García Castaño, Alejandro; Madariaga Domínguez, Leire
; Gómez Conde, Sara; Rey Cordo, Carmen Lourdes; López Iglesias, María; García Fernández, Yolanda; Martín Nieto, Alicia; González, Pedro; Goicolea, Ignacio; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Aguayo Calcena, Aníbal; Martínez de la Piscina Martín, Idoia; Martínez Salazar, Rosa; Saso Jiménez, Laura; Urrutia, Inés; Velasco, Olaia; Castaño González, Luis Antonio ; Gaztambide Sáenz, María Sonia (Nature, 2021-02-03)
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 ... -
Incidence of Diabetes Mellitus and Associated Risk Factors in the Adult Population of the Basque Country, Spain
Urrutia, Inés; Martín Nieto, Alicia; Martínez Salazar, Rosa; Casanovas Marsal, Josep Oriol; Aguayo Calcena, Aníbal; Del Olmo, Juan; Arana Arri, Eunate; Fernández Rubio, Elsa; Castaño González, Luis Antonio; Gaztambide Sáenz, María Sonia (Nature, 2021-02-04)
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 ... -
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
Urrutia, Inés; Martínez Salazar, Rosa; Rica, Itxaso; Martínez de la Piscina Martín, Idoia; García Castaño, Alejandro; Aguayo Calcena, Aníbal; Calvo, Begoña; Castaño González, Luis Antonio; Spanish Pediatric Diabetes Collaborative Group (Public Library Science, 2019-07-31)
Objective Monogenic 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 ... -
Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
García Castaño, Alejandro; Madariaga Domínguez, Leire; Antón Gamero, Montserrat; Mejia, Natalia; Ponce, Jenny; Gómez Conde, Sara; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Martínez Salazar, Rosa; Saso Jiménez, Laura; Martínez de la Piscina Martín, Idoia; Urrutia, Inés; Velasco, Olaia; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio ; Gaztambide Sáenz, María Sonia (Public Library Science, 2020-09-30)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ... -
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Martínez de la Piscina Martín, Idoia; Hernández Ramírez, Laura C.; Portillo, Nancy; Gómez Gila, Ana L.; Urrutia, Inés; Martínez Salazar, Rosa; García Castaño, Alejandro; Aguayo Calcena, Aníbal; Rica, Itxaso; Gaztambide Sáenz, María Sonia; Faucz, Fabio R.; Keil, Margaret F.; Lodish, Maya B.; Quezado, Martha; Pankratz, Nathan; Chittiboina, Prashant; Lane, John; Kay, Denise M.; Mills, James L.; Castaño González, Luis Antonio; Stratakis, Constantine A.; Spanish Corticotroph Adenomas Collaborative (Frontiers Media, 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 ...