Ackerman MJ - Search Results

1

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A, Tan BH, Iturralde-Torres P, Tester DJ, Tusié-Luna T, Makielski JC, Ackerman MJ. Medeiros-Domingo A, et al. Among authors: ackerman mj. Heart Rhythm. 2009 Aug;6(8):1170-5. doi: 10.1016/j.hrthm.2009.04.034. Epub 2009 May 4. Heart Rhythm. 2009. PMID: 19632629 Free PMC article.

2

A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

Ackerman MJ, Schroeder JJ, Berry R, Schaid DJ, Porter CJ, Michels VV, Thibodeau SN. Ackerman MJ, et al. Pediatr Res. 1998 Aug;44(2):148-53. doi: 10.1203/00006450-199808000-00002. Pediatr Res. 1998. PMID: 9702906

3

Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning.

Ackerman MJ, Tester DJ, Porter CJ, Edwards WD. Ackerman MJ, et al. N Engl J Med. 1999 Oct 7;341(15):1121-5. doi: 10.1056/NEJM199910073411504. N Engl J Med. 1999. PMID: 10511610 Free article. No abstract available.

4

Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

Ackerman MJ, Tester DJ, Porter CJ. Ackerman MJ, et al. Mayo Clin Proc. 1999 Nov;74(11):1088-94. doi: 10.4065/74.11.1088. Mayo Clin Proc. 1999. PMID: 10560595

5

Molecular autopsy of sudden unexplained death in the young.

Ackerman MJ, Tester DJ, Driscoll DJ. Ackerman MJ, et al. Am J Forensic Med Pathol. 2001 Jun;22(2):105-11. doi: 10.1097/00000433-200106000-00001. Am J Forensic Med Pathol. 2001. PMID: 11394742

6

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Ackerman MJ, et al. JAMA. 2001 Nov 14;286(18):2264-9. doi: 10.1001/jama.286.18.2264. JAMA. 2001. PMID: 11710892

7

Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome.

Ackerman MJ, Khositseth A, Tester DJ, Hejlik JB, Shen WK, Porter CB. Ackerman MJ, et al. Mayo Clin Proc. 2002 May;77(5):413-21. doi: 10.4065/77.5.413. Mayo Clin Proc. 2002. PMID: 12004990 Clinical Trial.

8

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.

Valdivia CR, Ackerman MJ, Tester DJ, Wada T, McCormack J, Ye B, Makielski JC. Valdivia CR, et al. Among authors: ackerman mj. Cardiovasc Res. 2002 Aug 1;55(2):279-89. doi: 10.1016/s0008-6363(02)00445-5. Cardiovasc Res. 2002. PMID: 12123767

9

SCN5A is expressed in human jejunal circular smooth muscle cells.

Ou Y, Gibbons SJ, Miller SM, Strege PR, Rich A, Distad MA, Ackerman MJ, Rae JL, Szurszewski JH, Farrugia G. Ou Y, et al. Among authors: ackerman mj. Neurogastroenterol Motil. 2002 Oct;14(5):477-86. doi: 10.1046/j.1365-2982.2002.00348.x. Neurogastroenterol Motil. 2002. PMID: 12358675

10

Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction.

Ou Y, Strege P, Miller SM, Makielski J, Ackerman M, Gibbons SJ, Farrugia G. Ou Y, et al. J Biol Chem. 2003 Jan 17;278(3):1915-23. doi: 10.1074/jbc.M209938200. Epub 2002 Nov 11. J Biol Chem. 2003. PMID: 12429735 Free article.

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