Detalhe da pesquisa
1.
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.
Eur Heart J
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747976
2.
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Eur Heart J
; 42(29): 2854-2863, 2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219138
3.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
4.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med
; 23(1): 47-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893267
5.
Identification of transmembrane protein 168 mutation in familial Brugada syndrome.
FASEB J
; 34(5): 6399-6417, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32175648
6.
Novel electrocardiographic criteria for short QT syndrome in children and adolescents.
Europace
; 23(12): 2029-2038, 2021 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34179980
7.
Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.
Med Mol Morphol
; 54(3): 259-264, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651170
8.
Catalytic trifluoromethylation of iodoarenes by use of 2-trifluoromethylated benzimidazoline as trifluoromethylating reagent.
Beilstein J Org Chem
; 16: 2442-2447, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082878
9.
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Hum Mol Genet
; 26(9): 1670-1677, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335032
10.
HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node.
J Physiol
; 596(5): 809-825, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315578
11.
Overexpression of heart-specific small subunit of myosin light chain phosphatase results in heart failure and conduction disturbance.
Am J Physiol Heart Circ Physiol
; 314(6): H1192-H1202, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29451818
12.
Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry.
Circ J
; 82(11): 2707-2714, 2018 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078822
13.
Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.
J Hum Genet
; 62(11): 989-995, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747690
14.
Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias.
Eur Heart J
; 37(18): 1469-75, 2016 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26429810
15.
Pathological Features of Lamin Cardiomyopathy.
Circ J
; 84(7): 1193, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32336741
16.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun
; 15(1): 3380, 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643172
17.
Dilated cardiomyopathy-associated FHOD3 variant impairs the ability to induce activation of transcription factor serum response factor.
Circ J
; 77(12): 2990-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088304
18.
Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.
Circ J
; 77(4): 959-67, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23257389
19.
Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.
Heart Rhythm
; 20(1): 89-99, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007726
20.
Comparative effects of amlodipine and benazepril on left atrial pressure in dogs with experimentally-induced mitral valve regurgitation.
BMC Vet Res
; 8: 166, 2012 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22989022