Literature DB >> 18774103

Novel gene and mutation discovery in congenital long QT syndrome: let's keep looking where the street lamp standeth.

David J Tester, Michael J Ackerman.   

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Year:  2008        PMID： 18774103      PMCID： PMC3281582          DOI： 10.1016/j.hrthm.2008.07.002

Source DB:  PubMed          Journal:  Heart Rhythm        ISSN： 1547-5271            Impact factor:   6.343


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  19 in total

1.  Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

Authors:  Tamara T Koopmann; Marielle Alders; Roselie J Jongbloed; Silvia Guerrero; Marcel M A M Mannens; Arthur A M Wilde; Connie R Bezzina
Journal:  Heart Rhythm       Date:  2006-01       Impact factor: 6.343

2.  Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

Authors:  W Liu; C Qian; U Francke
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

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

Authors:  M J Ackerman; B L Siu; W Q Sturner; D J Tester; C R Valdivia; J C Makielski; J A Towbin
Journal:  JAMA       Date:  2001-11-14       Impact factor: 56.272

Review 4.  The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy.

Authors:  N E Bowles; K R Bowles; J A Towbin
Journal:  Herz       Date:  2000-05       Impact factor: 1.443

5.  Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.

Authors:  I Fernandez-Cadenas; A L Andreu; J Gamez; R Gonzalo; M A Martín; J C Rubio; J Arenas
Journal:  Neurology       Date:  2003-11-25       Impact factor: 9.910

6.  Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Authors:  I Splawski; J Shen; K W Timothy; G M Vincent; M H Lehmann; M T Keating
Journal:  Genomics       Date:  1998-07-01       Impact factor: 5.736

7.  SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.

Authors:  Q Wang; J Shen; I Splawski; D Atkinson; Z Li; J L Robinson; A J Moss; J A Towbin; M T Keating
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

8.  A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Authors:  M E Curran; I Splawski; K W Timothy; G M Vincent; E D Green; M T Keating
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582

9.  Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.

Authors:  David J Tester; Daniel B Spoon; Hector H Valdivia; Jonathan C Makielski; Michael J Ackerman
Journal:  Mayo Clin Proc       Date:  2004-11       Impact factor: 7.616

10.  A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.

Authors:  M Montera; F Piaggio; C Marchese; V Gismondi; A Stella; N Resta; L Varesco; G Guanti; C Mareni
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318
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  8 in total

1.  Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.

Authors:  Audrey Farrugia; Christine Keyser; Bertrand Ludes
Journal:  Int J Legal Med       Date:  2012-03-09       Impact factor: 2.686

Review 2.  Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.

Authors:  David J Tester; Michael J Ackerman
Journal:  Circulation       Date:  2011-03-08       Impact factor: 29.690

Review 3.  Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood.

Authors:  Gregory Webster; Charles I Berul
Journal:  Trends Cardiovasc Med       Date:  2008-08       Impact factor: 6.677

Review 4.  Genetic testing in the management of inherited arrhythmia syndromes.

Authors:  Wendy S Tzou; Edward P Gerstenfeld
Journal:  Curr Cardiol Rep       Date:  2009-09       Impact factor: 2.931

5.  Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Authors:  Suraj Kapa; David J Tester; Benjamin A Salisbury; Carole Harris-Kerr; Manish S Pungliya; Marielle Alders; Arthur A M Wilde; Michael J Ackerman
Journal:  Circulation       Date:  2009-10-19       Impact factor: 29.690

6.  Long QT syndrome-associated mutations in intrauterine fetal death.

Authors:  Lia Crotti; David J Tester; Wendy M White; Daniel C Bartos; Roberto Insolia; Alessandra Besana; Jennifer D Kunic; Melissa L Will; Ellyn J Velasco; Jennifer J Bair; Alice Ghidoni; Irene Cetin; Daniel L Van Dyke; Myra J Wick; Brian Brost; Brian P Delisle; Fabio Facchinetti; Alfred L George; Peter J Schwartz; Michael J Ackerman
Journal:  JAMA       Date:  2013-04-10       Impact factor: 56.272

7.  Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Authors:  Ivone U S Leong; Alexander Stuckey; Daniel Lai; Jonathan R Skinner; Donald R Love
Journal:  BMC Med Genet       Date:  2015-05-13       Impact factor: 2.103

8.  KCNQ1 G219E and TRPM4 T160M polymorphisms are involved in the pathogenesis of long QT syndrome: A case report.

Authors:  Yang Zhao; Min Feng; Lu-Xiang Shang; Hua-Xin Sun; Xian-Hui Zhou; Yan-Mei Lu; Ling Zhang; Qiang Xing; Yao-Dong Li; Bao-Peng Tang
Journal:  Medicine (Baltimore)       Date:  2021-01-15       Impact factor: 1.817
  8 in total

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