Mobilization of endothelial progenitor cells in acute cardiovascular events in the PROCELL study: Time-course after acute myocardial infarction and stroke

Autor: Juan Sanchis, Jaume Roquer, José T. Ortiz-Pérez, Gines Escolar, Gemma G. Gené, Carlos Bueno-Betí, Carlos Hermenegildo, Xavier Freixa, Julio Núñez, Mercè Roqué, Carole Jung, Maribel Diaz-Ricart, Isaac Subirana, Susana Novella, Magda Heras, Miguel A. Valverde, Elisa Cuadrado-Godia, Anna Oliveras, Jaume Marrugat, Ander Regueiro

Publikováno v: Journal of Molecular and Cellular Cardiology. 80:146-155

The mobilization pattern and functionality of endothelial progenitor cells after an acute ischemic event remain largely unknown. The aim of our study was to characterize and compare the short- and long-term mobilization of endothelial progenitor cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e21ff9f4ffb8581f04013beb3ac65e
https://doi.org/10.1016/j.yjmcc.2015.01.005

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Autor: Marta Vila-Pueyo, Miguel A. Valverde, Gemma G. Gené, Bru Cormand, Alfons Macaya, Cèlia Sintas, José M. Fernández-Fernández, Marina Flotats-Bastardes, Xabier Elorza

Publikováno v: European Journal of Paediatric Neurology. 18:430-433

Benign paroxysmal torticollis of infancy (BPTI) is a rare paroxysmal disorder characterized by recurrent episodes of head tilt and accompanying general symptoms which remit spontaneously. The rare association with gain-of-function CACNA1A mutations,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d993b93f4334da4df7c04805a07fc77
https://doi.org/10.1016/j.ejpn.2013.12.011

A gain-of-function SNP in TRPC4 cation channel protects against myocardial infarction

Autor: Gavin Lucas, Cristina Plata, Mariano Sentí, Manuel Pastor, Marta Tomás, Jana Selent, Carole Jung, Miguel A. Valverde, Gemma G. Gené, Roberto Elosua, César Fandos

Publikováno v: Cardiovascular Research. 91:465-471

Aims The TRPC4 non-selective cation channel is widely expressed in the endothelium, where it generates Ca2+ signals that participate in the endothelium-mediated vasodilatory response. This study sought to identify single-nucleotide polymorphisms (SNP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7cae74f8c7e462b5626a0646c11434b
https://doi.org/10.1093/cvr/cvr083

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

Autor: Oriel, Carreño, Roser, Corominas, Selma Angèlica, Serra, Cèlia, Sintas, Noèlia, Fernández-Castillo, Marta, Vila-Pueyo, Claudio, Toma, Gemma G, Gené, Roser, Pons, Miguel, Llaneza, María-Jesús, Sobrido, Daniel, Grinberg, Miguel Ángel, Valverde, José Manuel, Fernández-Fernández, Alfons, Macaya, Bru, Cormand

Publikováno v: Molecular Genetics & Genomic Medicine

Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7c48b25bc93d12847ea1f92e0bf6cb71
https://pubmed.ncbi.nlm.nih.gov/24498617

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.

Autor: Rubio-Moscardo F; Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, University Pompeu Fabra, Barcelona, Spain., Setó-Salvia N, Pera M, Bosch-Morató M, Plata C, Belbin O, Gené G, Dols-Icardo O, Ingelsson M, Helisalmi S, Soininen H, Hiltunen M, Giedraitis V, Lannfelt L, Frank A, Bullido MJ, Combarros O, Sánchez-Juan P, Boada M, Tárraga L, Pastor P, Pérez-Tur J, Baquero M, Molinuevo JL, Sánchez-Valle R, Fuentes-Prior P, Fortea J, Blesa R, Muñoz FJ, Lleó A, Valverde MA, Clarimón J

Publikováno v: PloS one [PLoS One] 2013 Sep 17; Vol. 8 (9), pp. e74203. Date of Electronic Publication: 2013 Sep 17 (Print Publication: 2013).