Five patients with disorders of calcium metabolism presented with GCM2 gene variants

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

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

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

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in Pediatric Patients with MODY.

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

Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants

Autor: Javier García-Pérez, Alberto M. Borobia, Mayte Pérez-Olmeda, Antonio Portolés, Luis Castaño, Magdalena Campins-Artí, María Jesús Bertrán, Mercedes Bermejo, José Ramón Arribas, Andrea López, Ana Ascaso-del-Rio, Eunate Arana-Arri, Inmaculada Fuentes Camps, Anna Vilella, Almudena Cascajero, María Teresa García-Morales, María Castillo de la Osa, Carla Pérez Ingidua, David Lora, Paloma Jiménez-Santana, Silvia Pino-Rosa, Agustín Gómez de la Cámara, Erick De La Torre-Tarazona, Esther Calonge, Raquel Cruces, Cristóbal Belda-Iniesta, José Alcamí, Jesús Frías, Antonio J. Carcas, Francisco Díez-Fuertes, Lucía Díaz García, Elena Ramírez García, Enrique Seco Meseguer, Stefan Mark Stewart Balbàs, Alicia Marín Candón, Irene García García, Mikel Urroz Elizalde, Paula de la Rosa, Marta Sanz García, Cristina López Crespo, Vega Mauleón Martínez, Raquel de Madariaga Castell, Laura Vitón Vara, Rocío Prieto-Pérez, Emilio Vargas-Castrillón, Leonor Laredo, Ouhao Zhu-Huang, Teresa Iglesias, Natale Imaz-Ayo, Susana Meijide, Aitor García de Vicuña, Ana Santorcuato, Iraide Exposito, Sara de Benito, Alazne Bustinza, Mikel Gallego, Dolores García-Vázquez, Ana Belén de la Hoz, Gustavo Pérez-Nanclares, Josu Aurrekoetxea, Ines Urrutia, Rosa Martínez-Salazar, Janire Orcajo, Begoña Calvo, June Corcuera, Olaia Velasco, Anibal Aguayo, Xavier Martínez-Gómez, Susana Otero-Romero, Lluis Armadans, Blanca Borras-Bermejo, Oleguer Parés, Sonia Uriona, José Ángel Rodrigo Pendás, Cesar Llorente, José Santos, Laia Pinós, Lina Camacho, Judith Riera, Carla Sans, Antonia Agustí, Carmen Altadill, Carla Aguilar Blancafort, Gisela Gili Serrat, Aitana Plaza, Anna Feliu Prius, Maria Margarita Torrens, Esther Palacio, Gloria Torres, Julia Calonge, Elena Ballarin Alins, Eulàlia Pérez-Esquirol, Lourdes Vendrell Bosch, Marta Aldea, Eugènia Mellado, Ma Ángeles Marcos, Marta Tortajada, Lourdes E. Barón-Mira, Laura Granés, Sulayman Lazaar, Sara Herranz, Montserrat Malet, Sebastiana Quesada, Anna Llupià, Victoria Olivé, Antoni Trilla, Begoña Gómez, Elisenda González, Sheila Romero, Francisco Javier Gámez, Cristina Casals, Laura Burunat, Juan José Castelló, Patricia Fernández, Josep Lluís Bedini, Jordi Vila, Juan Carlos Hurtado, Isabel Jado, Giovanni Fedele, Concepción Perea, Mónica González, Isabel Grajera, María Ángeles Murillo, Pilar Balfagón, Irene Díaz-Marín, Gema González-Pardo

Publikováno v: iScience, Vol 27, Iss 9, Pp 110728- (2024)

Summary: CombiVacS study has demonstrated a strong immune response of the heterologous ChAdOx1-S/BNT162b2 vaccine combination. The primary outcomes of the study were to assess the humoral immune response against SARS-CoV-2, 28 days after a third dose

Externí odkaz: https://doaj.org/article/1d8485bc140e4998a160d76238a98bff