Results 61 to 70 of about 6,365 (192)

A meta-analysis of gene expression signatures of blood pressure and hypertension [PDF]

, 2015
Genome-wide association studies (GWAS) have uncovered numerous genetic variants (SNPs) that are associated with blood pressure (BP). Genetic variants may lead to BP changes by acting on intermediate molecular phenotypes such as coded protein sequence or ...
Chen, B., Courchesne, P., Dehghan, A., Esko, T., et al., Hofman, A., Huan, T., Joehanes, R., Johnson, A., Liu, C., Liu, P., Milani, L., Peters, M., Pilling, L., Raghavachari, N., Reinmaa, E., Schramm, K., Schurmann, C., Wang, R., Yao, C., Ying, S.   +20 more
core   +4 more sources

Investigation of the Effects of the Short QT Syndrome D172N Kir2.1 Mutation on Ventricular Action Potential Profile Using Dynamic Clamp

Frontiers in Pharmacology, 2022
The congenital short QT syndrome (SQTS) is a cardiac condition that leads to abbreviated ventricular repolarization and an increased susceptibility to arrhythmia and sudden death.
Chunyun Du, Randall L. Rasmusson, Randall L. Rasmusson, Glenna C. Bett, Glenna C. Bett, Glenna C. Bett, Brandon Franks, Henggui Zhang, Jules C. Hancox, Jules C. Hancox   +9 more
doaj   +1 more source

Training-induced gene expression plasticity in cardiac function and neural regulation for ultra-trail runners [PDF]

, 2015
This study aims to assess the gene regulatory response from a group of 16 athletes and to observe the plasticity induced by their training regime on the gene expression response after their participation in an 82km race.
Brotons, Daniel, Maqueda González, María de los Ángeles, Perera Lluna, Alexandre, Roca, Emma, Soria Fernández, José Manuel   +4 more
core   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome

Frontiers in Cardiovascular Medicine, 2022
It is arduous to determine clinical solutions for Andersen-Tawil syndrome (ATS) in patients intolerant of β-blocker. Here, we present the case of a 7-year-old boy with periodic paralysis and dysmorphic features who experienced syncope four times during ...
Jing Yang, Jing Yang, Kun Li, Tingting Lv, Ying Xie, Fang Liu, Ping Zhang, Ping Zhang   +7 more
doaj   +1 more source

Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. [PDF]

, 2016
Sudden cardiac death (SCD) in the young (
Ackerman, Ackerman, Ackerman, Anderson, Antzelevitch, Antzelevitch, Bagnall, Basso, Behr, Bellocq, Bezzina, Bezzina, Brugada, Buscemi, Chugh, Creighton, Crotti, Dean, Di Paolo, Elliott, Etheridge, Farrugia, Gaita, Giudicessi, Gladding, Grantham, Gussak, Hayashi, Hedley, Hershberger, Hertz, Hertz, Jabbari, Jefferies, Kapplinger, Lahat, Laitinen, Larsen, Leenhardt, Li, Lodder, Lubitz, MacArthur, Marcus, Maron, Mazzanti, Medeiros-Domingo, Meyer, Miles, Mizusawa, Narula, Neubauer, Neyroud, Nishio, Nunn, Petretta, Plaster, Priori, Priori, Priori, Priori, Probst, Refsgaard, Richard, Richards, Risgaard, Schulze-Bahr, Schwartz, Schwartz, Schwartz, Semsarian, Skinner, Splawski, Stattin, Tester, Tester, Tester, Towbin, van der Werf, van Rijsingen, Ware, Winkel   +81 more
core   +3 more sources

Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea ...
Célia H. Tengan, Antonio C. Antunes, José R. Bauab, Gilmar F. Prado, Gilberto M. Manzano, Alberto A. Gabbai   +5 more
doaj   +1 more source

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence. [PDF]

, 2014
Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions, and duplications within a ∼2 Mb region upstream of SOX9 can
Abadie, V., Amiel, J., Ansari, M., Attanasio, C., Benko, S., Bhatia, S., FitzPatrick, D., Goldenberg, A., Gordon, C.T., Kleinjan, D.A., Lyonnet, S., Munnich, A., Pennacchio, L.A., Tan, T.Y., Temple, I.K., van Heyningen, V., Visel, A.   +16 more
core   +3 more sources

Age‐ and sex‐specific modulation of human cardiac electrophysiology by doxorubicin

The Journal of Physiology, EarlyView.
Abstract figure legend DOX differentially impacts cardiac electrophysiology based on sex and age. Sex differences were primarily observed among younger hearts, where action potential duration (APD) prolongation was observed in females, but not in males. Created using BioRender. George, S. (2026) https://BioRender.com/wresf1k Abstract Acute doxorubicin (
Sharon A. George, Amber V. Mills, Erin O'Neill, Sofian N. Obaid, Igor R. Efimov, Tatiana Efimova   +5 more
wiley   +1 more source

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression

Journal of Biomedical Science, 2017
Background The inward rectifier potassium current IK1 contributes to a stable resting membrane potential and phase 3 repolarization of the cardiac action potential.
Yuan Ji, Marlieke G. Veldhuis, Jantien Zandvoort, Fee L. Romunde, Marien J. C. Houtman, Karen Duran, Gijs van Haaften, Eva-Maria Zangerl-Plessl, Hiroki Takanari, Anna Stary-Weinzinger, Marcel A. G. van der Heyden   +10 more
doaj   +1 more source