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Circulation. Genomic and Precision Medicine
|
August 21, 2019
Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation
Steven I Estes, Dan Ye, Wei Zhou, et al.
Circulation. Cardiovascular Genetics
|
May 17, 2013
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome
Nicole J Boczek, Jabe M Best, David J Tester, et al.
Heart Rhythm
|
April 21, 2010
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
David J Tester, Carmen Valdivia, Carole Harris-Kerr, et al.
Physiological Genomics
|
March 10, 2011
The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current
Jianding Cheng, David J Tester, Bi-Hua Tan, et al.
Cardiovascular Research
|
March 17, 2004
A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs
Carmen R Valdivia, David J Tester, Benjamin A Rok, et al.
Journal of Molecular and Cellular Cardiology
|
February 15, 2008
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
Qiuming Gong, Li Zhang, Arthur J Moss, et al.
Plos One
|
April 30, 2015
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis
Rou-Mu Hu, Bi-Hua Tan, David J Tester, et al.
Journal of Cardiovascular Translational Research
|
April 10, 2015
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
Jamie D Kapplinger, Andrew S Tseng, Benjamin A Salisbury, et al.
Circulation. Genomic and Precision Medicine
|
May 30, 2020
Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members
Kari L Turkowski, Steven M Dotzler, David J Tester, et al.
Heart Rhythm
|
March 8, 2023
Injectable contraceptive Depo-Provera induces erratic beating patterns in patient-specific induced pluripotent stem cell-derived cardiomyocytes with long QT syndrome type 2
Alexa M Pinsky, Xiaozhi Gao, Sahej Bains, et al.
Page
of 22
Search research articles
Search
Showing results (111-120 of 212) with videos related to
Sort By:
Page
of 22
Circulation. Genomic and Precision Medicine
|
August 21, 2019
Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation
Steven I Estes, Dan Ye, Wei Zhou, et al.
Circulation. Cardiovascular Genetics
|
May 17, 2013
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome
Nicole J Boczek, Jabe M Best, David J Tester, et al.
Heart Rhythm
|
April 21, 2010
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
David J Tester, Carmen Valdivia, Carole Harris-Kerr, et al.
Physiological Genomics
|
March 10, 2011
The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current
Jianding Cheng, David J Tester, Bi-Hua Tan, et al.
Cardiovascular Research
|
March 17, 2004
A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs
Carmen R Valdivia, David J Tester, Benjamin A Rok, et al.
Journal of Molecular and Cellular Cardiology
|
February 15, 2008
A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome
Qiuming Gong, Li Zhang, Arthur J Moss, et al.
Plos One
|
April 30, 2015
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis
Rou-Mu Hu, Bi-Hua Tan, David J Tester, et al.
Journal of Cardiovascular Translational Research
|
April 10, 2015
Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel
Jamie D Kapplinger, Andrew S Tseng, Benjamin A Salisbury, et al.
Circulation. Genomic and Precision Medicine
|
May 30, 2020
Corrected QT Interval-Polygenic Risk Score and Its Contribution to Type 1, Type 2, and Type 3 Long-QT Syndrome in Probands and Genotype-Positive Family Members
Kari L Turkowski, Steven M Dotzler, David J Tester, et al.
Heart Rhythm
|
March 8, 2023
Injectable contraceptive Depo-Provera induces erratic beating patterns in patient-specific induced pluripotent stem cell-derived cardiomyocytes with long QT syndrome type 2
Alexa M Pinsky, Xiaozhi Gao, Sahej Bains, et al.
Page
of 22