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102.
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103.
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Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. [electronic resource] by
- Sharma, Dipika
- Glatter, Kathryn A
- Timofeyev, V
- Tuteja, Dipika
- Zhang, Zhao
- Rodriguez, Jennifer
- Tester, David J
- Low, Reginald
- Scheinman, Melvin M
- Ackerman, Michael J
- Chiamvimonvat, Nipavan
Producer: 20050131
In:
Journal of molecular and cellular cardiology vol. 37
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104.
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Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. [electronic resource] by
- Giudicessi, John R
- Ye, Dan
- Tester, David J
- Crotti, Lia
- Mugione, Alessandra
- Nesterenko, Vladislav V
- Albertson, Richard M
- Antzelevitch, Charles
- Schwartz, Peter J
- Ackerman, Michael J
Producer: 20111214
In:
Heart rhythm vol. 8
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105.
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106.
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KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. [electronic resource] by
- Kapplinger, Jamie D
- Erickson, Anders
- Asuri, Sirisha
- Tester, David J
- McIntosh, Sarah
- Kerr, Charles R
- Morrison, Julie
- Tang, Anthony
- Sanatani, Shubhayan
- Arbour, Laura
- Ackerman, Michael J
Producer: 20180307
In:
Journal of medical genetics vol. 54
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107.
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108.
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Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population. [electronic resource] by
- Clemens, Daniel J
- Gray, Belinda
- Bagnall, Richard D
- Tester, David J
- Dotzler, Steven M
- Giudicessi, John R
- Matthews, Emma
- Semsarian, Christopher
- Behr, Elijah R
- Ackerman, Michael J
Producer: 20210603
In:
Circulation. Genomic and precision medicine vol. 13
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109.
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Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. [electronic resource] by
- Bos, J Martijn
- Poley, Rainer N
- Ny, Melissa
- Tester, David J
- Xu, Xiaolei
- Vatta, Matteo
- Towbin, Jeffrey A
- Gersh, Bernard J
- Ommen, Steve R
- Ackerman, Michael J
Producer: 20060630
In:
Molecular genetics and metabolism vol. 88
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110.
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Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. [electronic resource] by
- Anderson, Corey L
- Delisle, Brian P
- Anson, Blake D
- Kilby, Jennifer A
- Will, Melissa L
- Tester, David J
- Gong, Qiuming
- Zhou, Zhengfeng
- Ackerman, Michael J
- January, Craig T
Producer: 20060227
In:
Circulation vol. 113
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112.
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113.
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Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy. [electronic resource] by
- Saito, Yuri A
- Strege, Peter R
- Tester, David J
- Locke, G Richard
- Talley, Nicholas J
- Bernard, Cheryl E
- Rae, James L
- Makielski, Jonathan C
- Ackerman, Michael J
- Farrugia, Gianrico
Producer: 20090313
In:
American journal of physiology. Gastrointestinal and liver physiology vol. 296
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114.
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A mutation in telethonin alters Nav1.5 function. [electronic resource] by
- Mazzone, Amelia
- Strege, Peter R
- Tester, David J
- Bernard, Cheryl E
- Faulkner, Georgine
- De Giorgio, Roberto
- Makielski, Jonathan C
- Stanghellini, Vincenzo
- Gibbons, Simon J
- Ackerman, Michael J
- Farrugia, Gianrico
Producer: 20080724
In:
The Journal of biological chemistry vol. 283
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115.
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Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating. [electronic resource] by
- Balijepalli, Sadguna Y
- Lim, Evi
- Concannon, Sarah P
- Chew, Chen L
- Holzem, Kassandra E
- Tester, David J
- Ackerman, Michael J
- Delisle, Brian P
- Balijepalli, Ravi C
- January, Craig T
Producer: 20130212
In:
Circulation vol. 126
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117.
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Elucidation of [electronic resource] by
- Higgins, Erin M
- Bos, J Martijn
- Mason-Suares, Heather
- Tester, David J
- Ackerman, Jaeger P
- MacRae, Calum A
- Sol-Church, Katia
- Gripp, Karen W
- Urrutia, Raul
- Ackerman, Michael J
Producer: 20190930
In:
JCI insight vol. 2
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118.
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Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome. [electronic resource] by
- Delisle, Brian P
- Slind, Jessica K
- Kilby, Jennifer A
- Anderson, Corey L
- Anson, Blake D
- Balijepalli, Ravi C
- Tester, David J
- Ackerman, Michael J
- Kamp, Timothy J
- January, Craig T
Producer: 20050801
In:
Molecular pharmacology vol. 68
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119.
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Properties of WT and mutant hERG K(+) channels expressed in neonatal mouse cardiomyocytes. [electronic resource] by
- Lin, Eric C
- Holzem, Katherine M
- Anson, Blake D
- Moungey, Brooke M
- Balijepalli, Sadguna Y
- Tester, David J
- Ackerman, Michael J
- Delisle, Brian P
- Balijepalli, Ravi C
- January, Craig T
Producer: 20100623
In:
American journal of physiology. Heart and circulatory physiology vol. 298
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120.
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Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations. [electronic resource] by
- Zhou, Wei
- Bos, J Martijn
- Ye, Dan
- Tester, David J
- Hrstka, Sybil
- Maleszewski, Joseph J
- Ommen, Steve R
- Nishimura, Rick A
- Schaff, Hartzell V
- Kim, Chang Sung
- Ackerman, Michael J
Producer: 20200601
In:
Journal of cardiovascular translational research vol. 12
Availability: No items available.
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