المؤلفون: Dolz-Gaitón, Pablo, Núñez, Mercedes, Núñez, Lucía, Barana, Adriana, Amorós, Irene, Matamoros, Marcos, Pérez-Hernández, Marta, González de la Fuente, Marta, Alvarez-López, Miguel, Macías-Ruiz, Rosa, Tercedor-Sánchez, Luis, Jiménez-Jáimez, Juan, Delpón, Eva, Caballero, Ricardo, Tamargo, Juan

المساهمون: Dolz-Gaitón,P: Núñez,M, Barana,A, Amorós,I, Matamoros,M, Pérez-Hernández,M, González de la Fuente,M, Delpón,E, Caballero,R, Tamargo,J Department of Pharmacology, School of Medicine, Universidad Complutense de Madrid, Madrid, Spain. Dolz-Gaitón,P, Núñez,M, Caballero,R Instituto de Investigación Sanitaria Gregorio Marañón, School of Medicine, Universidad Complutense, Madrid, Spain. Barana,A, Tamargo,J Instituto de Investigación Sanitaria Hospital Clínico San Carlos, School of Medicine, Universidad Complutense, Madrid, Spain. Núñez,L Complejo Hospitalario Universitario de A Coruña and Instituto de Ciencias de la Salud, Universidad de A Coruña, A Coruña, Spain. Álvarez-López,M, Macías-Ruiz,R, Tercedor-Sánchez,L, Jiménez-Jáimez,J Arrhytmias Unit, Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain., Financial support provided by Instituto de Salud Carlos III PI11/01030, Red HERACLES RD06/0009 and Red Española de Investigación Cardiovascular RD12/0042/0011 , Comunidad Autónoma de Madrid (S2012/BMD-2374), Ministerio de Ciencia e Innovación SAF2011-30088, and SAF2011-30112 , Centro Nacional de Investigaciones Cardiovasculares CNIC-08-2009 , and Sociedad Española de Cardiología grants.

مصطلحات موضوعية: Síndrome de Brugada, Línea Celular Transformada, Activación del Canal Iónico, Canal de Sodio Activado por Voltaje NAV1.5, Humanos, Arritmias Cardíacas, Análisis Mutacional de ADN, Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Brugada Syndrome, Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line::Cell Line, Transformed, Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Ion Channel Gating, Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Sodium Channels, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Cardiac, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Voltage-Gated Sodium Channels::NAV1.5 Voltage-Gated Sodium Channel

وصف الملف: application/pdf

Relation: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0081493; Dolz-Gaitón P, Núñez M, Núñez L, Barana A, Amorós I, Matamoros M, et al. Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family. PLoS ONE; 2013, 8(11):e81493; http://hdl.handle.net/10668/1494; PMC3868464

الاتاحة: http://hdl.handle.net/10668/1494
https://doi.org/10.1371/journal.pone.0081493

المؤلفون: Rojas Palomino, Jessica

المساهمون: Giraldo, Marco A., Calderón, Juan Camilo

مصطلحات موضوعية: Myocytes, cardiac, Patch-Clamp techniques, Ion channel gating, Potassium Channels, Calcium channels, Spider venoms, Peptides, Miocitos cardíacos, Técnicas de Placa-Clamp, Activación del Canal iónico, Canales de Potasio, Canales de Calcio, Venenos de araña, Péptidos, Tarántula : Pamphobeteus verdolaga, http://id.nlm.nih.gov/mesh/D032383, http://id.nlm.nih.gov/mesh/D018408, http://id.nlm.nih.gov/mesh/D015640, http://id.nlm.nih.gov/mesh/D015221, http://id.nlm.nih.gov/mesh/D015220, http://id.nlm.nih.gov/mesh/D013111, http://id.nlm.nih.gov/mesh/D010455

وصف الملف: application/pdf

Relation: https://hdl.handle.net/10495/31476

الاتاحة: https://hdl.handle.net/10495/31476

المؤلفون: Rosa Macías-Ruiz, Ricardo Caballero, Mercedes Núñez, Miguel Álvarez-López, Marcos Matamoros, Marta Pérez-Hernández, Eva Delpón, Pablo Dolz-Gaitón, Juan Tamargo, Marta González de la Fuente, Lucía Núñez, Luis Tercedor-Sánchez, Adriana Barana, Irene Amorós, Juan Jiménez-Jáimez

المساهمون: [Dolz-Gaitón,P: Núñez,M, Barana,A, Amorós,I, Matamoros,M, Pérez-Hernández,M, González de la Fuente,M, Delpón,E, Caballero,R, Tamargo,J] Department of Pharmacology, School of Medicine, Universidad Complutense de Madrid, Madrid, Spain. [Dolz-Gaitón,P, Núñez,M, Caballero,R] Instituto de Investigación Sanitaria Gregorio Marañón, School of Medicine, Universidad Complutense, Madrid, Spain. [Barana,A, Tamargo,J] Instituto de Investigación Sanitaria Hospital Clínico San Carlos, School of Medicine, Universidad Complutense, Madrid, Spain. [Núñez,L] Complejo Hospitalario Universitario de A Coruña and Instituto de Ciencias de la Salud, Universidad de A Coruña, A Coruña, Spain. [ Álvarez-López,M, Macías-Ruiz,R, Tercedor-Sánchez,L, Jiménez-Jáimez,J] Arrhytmias Unit, Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain., Financial support provided by Instituto de Salud Carlos III [PI11/01030, Red HERACLES RD06/0009 and Red Española de Investigación Cardiovascular RD12/0042/0011], Comunidad Autónoma de Madrid (S2012/BMD-2374), Ministerio de Ciencia e Innovación [SAF2011-30088, and SAF2011-30112], Centro Nacional de Investigaciones Cardiovasculares [CNIC-08-2009], and Sociedad Española de Cardiología grants.

المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
PLoS ONE
PLoS ONE, Vol 8, Iss 11, p e81493 (2013)

مصطلحات موضوعية: Proband, Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Ion Channel Gating [Medical Subject Headings], lcsh:Medicine, Nav1.5, NAV1.5 Voltage-Gated Sodium Channel, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Variable Expression, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Voltage-Gated Sodium Channels::NAV1.5 Voltage-Gated Sodium Channel [Medical Subject Headings], Análisis Mutacional de ADN, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings], Síndrome de Brugada, lcsh:Science, Frameshift Mutation, Brugada syndrome, Brugada Syndrome, Genetics, Multidisciplinary, biology, Middle Aged, Phenylbutyrates, Humanos, Anatomy::Cells::Cells, Cultured::Cell Line::Cell Line, Transformed [Medical Subject Headings], Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac [Medical Subject Headings], Mutation (genetic algorithm), cardiovascular system, Female, Mutación del Sistema de Lectura, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Arritmias Cardíacas, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Sodium Channels [Medical Subject Headings], Mexiletine, macromolecular substances, Phenylbutyrate, Frameshift mutation, Internal medicine, medicine, Humans, cardiovascular diseases, Transporte Biológico, lcsh:R, Biological Transport, medicine.disease, Endocrinology, Canal de Sodio Activado por Voltaje NAV1.5, Activación del Canal Iónico, Ventricular fibrillation, biology.protein, lcsh:Q, Línea Celular Transformada, Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Brugada Syndrome [Medical Subject Headings]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c9644b8d4e88228f28abf129f20784
http://hdl.handle.net/20.500.11940/914