Literature DB >> 25460178

CALM3 mutation associated with long QT syndrome.

Griffin J Reed1, Nicole J Boczek2, Susan P Etheridge3, Michael J Ackerman4.   

Abstract

Entities:  

Keywords:  Arrhythmia; CALM3; Calcium channel inactivation; Calmodulin; Genetics; Long QT syndrome

Mesh：

Substances：

Year:  2014        PMID： 25460178      PMCID： PMC4907373          DOI： 10.1016/j.hrthm.2014.10.035

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


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  14 in total

1.  Prevalence of the congenital long-QT syndrome.

Authors:  Peter J Schwartz; Marco Stramba-Badiale; Lia Crotti; Matteo Pedrazzini; Alessandra Besana; Giuliano Bosi; Fulvio Gabbarini; Karine Goulene; Roberto Insolia; Savina Mannarino; Fabio Mosca; Luigi Nespoli; Alessandro Rimini; Enrico Rosati; Patrizia Salice; Carla Spazzolini
Journal:  Circulation       Date:  2009-10-19       Impact factor: 29.690

2.  Exome sequencing in a family segregating for celiac disease.

Authors:  A M Szperl; I Ricaño-Ponce; J K Li; P Deelen; A Kanterakis; V Plagnol; F van Dijk; H J Westra; G Trynka; C J Mulder; M Swertz; Cisca Wijmenga; H C H Zheng
Journal:  Clin Genet       Date:  2011-06-21       Impact factor: 4.438

Review 3.  The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy.

Authors:  Peter J Schwartz; Michael J Ackerman
Journal:  Eur Heart J       Date:  2013-03-18       Impact factor: 29.983

4.  Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Authors:  Nicole J Boczek; Jabe M Best; David J Tester; John R Giudicessi; Sumit Middha; Jared M Evans; Timothy J Kamp; Michael J Ackerman
Journal:  Circ Cardiovasc Genet       Date:  2013-06

5.  A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

Authors:  Roos F Marsman; Julien Barc; Leander Beekman; Marielle Alders; Dennis Dooijes; Arthur van den Wijngaard; Ilham Ratbi; Abdelaziz Sefiani; Zahurul A Bhuiyan; Arthur A M Wilde; Connie R Bezzina
Journal:  J Am Coll Cardiol       Date:  2013-09-25       Impact factor: 24.094

6.  Calmodulin mutations associated with recurrent cardiac arrest in infants.

Authors:  Lia Crotti; Christopher N Johnson; Elisabeth Graf; Gaetano M De Ferrari; Bettina F Cuneo; Marc Ovadia; John Papagiannis; Michael D Feldkamp; Subodh G Rathi; Jennifer D Kunic; Matteo Pedrazzini; Thomas Wieland; Peter Lichtner; Britt-Maria Beckmann; Travis Clark; Christian Shaffer; D Woodrow Benson; Stefan Kääb; Thomas Meitinger; Tim M Strom; Walter J Chazin; Peter J Schwartz; Alfred L George
Journal:  Circulation       Date:  2013-02-06       Impact factor: 29.690

7.  Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

Authors:  Worawan B Limpitikul; Ivy E Dick; Rosy Joshi-Mukherjee; Michael T Overgaard; Alfred L George; David T Yue
Journal:  J Mol Cell Cardiol       Date:  2014-05-08       Impact factor: 5.000

8.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

9.  Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Authors:  Naomasa Makita; Nobue Yagihara; Lia Crotti; Christopher N Johnson; Britt-Maria Beckmann; Michelle S Roh; Daichi Shigemizu; Peter Lichtner; Taisuke Ishikawa; Takeshi Aiba; Tessa Homfray; Elijah R Behr; Didier Klug; Isabelle Denjoy; Elisa Mastantuono; Daniel Theisen; Tatsuhiko Tsunoda; Wataru Satake; Tatsushi Toda; Hidewaki Nakagawa; Yukiomi Tsuji; Takeshi Tsuchiya; Hirokazu Yamamoto; Yoshihiro Miyamoto; Naoto Endo; Akinori Kimura; Kouichi Ozaki; Hideki Motomura; Kenji Suda; Toshihiro Tanaka; Peter J Schwartz; Thomas Meitinger; Stefan Kääb; Pascale Guicheney; Wataru Shimizu; Zahurul A Bhuiyan; Hiroshi Watanabe; Walter J Chazin; Alfred L George
Journal:  Circ Cardiovasc Genet       Date:  2014-06-10

10.  Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

Authors:  Guo Yin; Faisal Hassan; Ayman R Haroun; Lisa L Murphy; Lia Crotti; Peter J Schwartz; Alfred L George; Jonathan Satin
Journal:  J Am Heart Assoc       Date:  2014-06-23       Impact factor: 5.501
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  32 in total

Review 1.  Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Authors:  John R Giudicessi; Michael J Ackerman
Journal:  Circ Arrhythm Electrophysiol       Date:  2016-07

2.  Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Authors:  Lia Crotti; Carla Spazzolini; David J Tester; Alice Ghidoni; Alban-Elouen Baruteau; Britt-Maria Beckmann; Elijah R Behr; Jeffrey S Bennett; Connie R Bezzina; Zahurul A Bhuiyan; Alpay Celiker; Marina Cerrone; Federica Dagradi; Gaetano M De Ferrari; Susan P Etheridge; Meena Fatah; Pablo Garcia-Pavia; Saleh Al-Ghamdi; Robert M Hamilton; Zuhair N Al-Hassnan; Minoru Horie; Juan Jimenez-Jaimez; Ronald J Kanter; Juan P Kaski; Maria-Christina Kotta; Najim Lahrouchi; Naomasa Makita; Gabrielle Norrish; Hans H Odland; Seiko Ohno; John Papagiannis; Gianfranco Parati; Nicole Sekarski; Kristian Tveten; Matteo Vatta; Gregory Webster; Arthur A M Wilde; Julianne Wojciak; Alfred L George; Michael J Ackerman; Peter J Schwartz
Journal:  Eur Heart J       Date:  2019-09-14       Impact factor: 29.983

3.  A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.

Authors:  Worawan B Limpitikul; Ivy E Dick; David J Tester; Nicole J Boczek; Pattraranee Limphong; Wanjun Yang; Myoung Hyun Choi; Jennifer Babich; Deborah DiSilvestre; Ronald J Kanter; Gordon F Tomaselli; Michael J Ackerman; David T Yue
Journal:  Circ Res       Date:  2016-10-20       Impact factor: 17.367

Review 4.  Calcium Signaling and Cardiac Arrhythmias.

Authors:  Andrew P Landstrom; Dobromir Dobrev; Xander H T Wehrens
Journal:  Circ Res       Date:  2017-06-09       Impact factor: 17.367

Review 5.  Towards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium Channels.

Authors:  Manu Ben-Johny; Ivy E Dick; Lingjie Sang; Worawan B Limpitikul; Po Wei Kang; Jacqueline Niu; Rahul Banerjee; Wanjun Yang; Jennifer S Babich; John B Issa; Shin Rong Lee; Ho Namkung; Jiangyu Li; Manning Zhang; Philemon S Yang; Hojjat Bazzazi; Paul J Adams; Rosy Joshi-Mukherjee; Daniel N Yue; David T Yue
Journal:  Curr Mol Pharmacol       Date:  2015       Impact factor: 3.339

6.  Genetic Mosaicism in Calmodulinopathy.

Authors:  Lisa M Wren; Juan Jiménez-Jáimez; Saleh Al-Ghamdi; Jumana Y Al-Aama; Amnah Bdeir; Zuhair N Al-Hassnan; Jyn L Kuan; Roger Y Foo; Franck Potet; Christopher N Johnson; Miriam C Aziz; Gemma L Carvill; Juan-Pablo Kaski; Lia Crotti; Francesca Perin; Lorenzo Monserrat; Paul W Burridge; Peter J Schwartz; Walter J Chazin; Zahurul A Bhuiyan; Alfred L George
Journal:  Circ Genom Precis Med       Date:  2019-08-27

7.  Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

Authors:  Nicole J Boczek; Nieves Gomez-Hurtado; Dan Ye; Melissa L Calvert; David J Tester; Dmytro Kryshtal; Hyun Seok Hwang; Christopher N Johnson; Walter J Chazin; Christina G Loporcaro; Maully Shah; Andrew L Papez; Yung R Lau; Ronald Kanter; Bjorn C Knollmann; Michael J Ackerman
Journal:  Circ Cardiovasc Genet       Date:  2016-03-11

8.  Complex Arrhythmia Syndrome in a Knock-In Mouse Model Carrier of the N98S Calm1 Mutation.

Authors:  Wen-Chin Tsai; Shuai Guo; Michael A Olaopa; Loren J Field; Jin Yang; Changyu Shen; Ching-Pin Chang; Peng-Sheng Chen; Michael Rubart
Journal:  Circulation       Date:  2020-09-15       Impact factor: 29.690

9.  Conserved properties of individual Ca2+-binding sites in calmodulin.

Authors:  D Brent Halling; Benjamin J Liebeskind; Amelia W Hall; Richard W Aldrich
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-16       Impact factor: 11.205

10.  Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Authors:  Daniel C Pipilas; Christopher N Johnson; Gregory Webster; Jurg Schlaepfer; Florence Fellmann; Nicole Sekarski; Lisa M Wren; Kateryna V Ogorodnik; Daniel M Chazin; Walter J Chazin; Lia Crotti; Zahurul A Bhuiyan; Alfred L George
Journal:  Heart Rhythm       Date:  2016-07-01       Impact factor: 6.343
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