Publications:

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Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIδ autophosphorylation and L-type calcium channel (Cav1.2) inactivation.

The Journal Of Biological Chemistry

Prakash, Ohm O; Gupta, Nitika N; Milburn, Amy A; McCormick, Liam L; Deugi, Vishvangi V; Fisch, Pauline P; Wyles, Jacob J; Thomas, N Lowri NL; Antonyuk, Svetlana S; Dart, Caroline C; Helassa, Nordine N

Publication Date: 2022-12-07

Variant appearance in text: Nav1.5: N97S

PubMed Link: 36496072

Variant Present in the following documents:

• main.pdf

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Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report.

International Journal Of Molecular Sciences

Chazin, Walter J WJ; Johnson, Christopher N CN

Publication Date: 2020-02-19

Variant appearance in text: SCN5A: N97S

PubMed Link: 32093079

Variant Present in the following documents:

• Main text
• ijms-21-01418.pdf

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Human Calmodulin Mutations.

Frontiers In Molecular Neuroscience

Jensen, Helene H HH; Brohus, Malene M; Nyegaard, Mette M; Overgaard, Michael T MT

Publication Date: 2018

Variant appearance in text: SCN5A: N97S

PubMed Link: 30483049

Variant Present in the following documents:

• Main text
• fnmol-11-00396.pdf

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Calcium Signaling and Cardiac Arrhythmias.

Circulation Research

Landstrom, Andrew P AP; Dobrev, Dobromir D; Wehrens, Xander H T XHT

Publication Date: 2017-06-09

Variant appearance in text: Nav1.5: N97S

PubMed Link: 28596175

Variant Present in the following documents:

• Main text

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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

Plos One

Jiménez-Jáimez, Juan J; Palomino Doza, Julián J; Ortega, Ángeles Á; Macías-Ruiz, Rosa R; Perin, Francesca F; Rodríguez-Vázquez del Rey, M Mar MM; Ortiz-Genga, Martín M; Monserrat, Lorenzo L; Barriales-Villa, Roberto R; Blanca, Enrique E; Álvarez, Miguel M; Tercedor, Luis L

Publication Date: 2016

Variant appearance in text: SCN5A: Asn97Ser

PubMed Link: 27100291

Variant Present in the following documents:

• Main text
• pone.0153851.pdf

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Calmodulin mutations associated with recurrent cardiac arrest in infants.

Circulation

Crotti, Lia L; Johnson, Christopher N CN; Graf, Elisabeth E; De Ferrari, Gaetano M GM; Cuneo, Bettina F BF; Ovadia, Marc M; Papagiannis, John J; Feldkamp, Michael D MD; Rathi, Subodh G SG; Kunic, Jennifer D JD; Pedrazzini, Matteo M; Wieland, Thomas T; Lichtner, Peter P; Beckmann, Britt-Maria BM; Clark, Travis T; Shaffer, Christian C; Benson, D Woodrow DW; Kääb, Stefan S; Meitinger, Thomas T; Strom, Tim M TM; Chazin, Walter J WJ; Schwartz, Peter J PJ; George, Alfred L AL

Publication Date: 2013-03-05

Variant appearance in text: SCN5A: N97S

PubMed Link: 23388215

Variant Present in the following documents:

• Main text

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Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

American Journal Of Human Genetics

Nyegaard, Mette M; Overgaard, Michael T MT; Søndergaard, Mads T MT; Vranas, Marta M; Behr, Elijah R ER; Hildebrandt, Lasse L LL; Lund, Jacob J; Hedley, Paula L PL; Camm, A John AJ; Wettrell, Göran G; Fosdal, Inger I; Christiansen, Michael M; Børglum, Anders D AD

Publication Date: 2012-10-05

Variant appearance in text: SCN5A: Asn97Ser

PubMed Link: 23040497

Variant Present in the following documents:

• Main text

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