PMC Links for OMIM (Select 114180) - PMC

Select item 108813961.

Stress response silencing by an E3 ligase mutated in neurodegeneration

Diane L. Haakonsen, Michael Heider, Andrew J. Ingersoll, Kayla Vodehnal, Samuel R. Witus, Takeshi Uenaka, Marius Wernig, Michael Rapé

Nature. 2024; 626(8000): 874–880. Published online 2024 Jan 31. doi: 10.1038/s41586-023-06985-7

PMCID:: PMC10881396

Abstract Article PDF–14M

Select item 67487472.

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

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, Jr, Michael J Ackerman, Peter J Schwartz

Eur Heart J. 2019 Sep 14; 40(35): 2964–2975. Published online 2019 Jun 6. doi: 10.1093/eurheartj/ehz311

PMCID:: PMC6748747

Abstract Article PDF–968K

Select item 49073643.

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

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

Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2016 Apr; 9(2): 136–146. Published online 2016 Mar 11. doi: 10.1161/CIRCGENETICS.115.001323

PMCID:: PMC4907364

Abstract Article PDF–697K

Select item 42622564.

A modular switch for spatial Ca²⁺ selectivity in the calmodulin regulation of CaV channels

Ivy E. Dick, Michael R. Tadross, Haoya Liang, Lai Hock Tay, Wanjun Yang, David T. Yue

Nature. Author manuscript; available in PMC 2014 Dec 10.

Published in final edited form as: Nature. 2008 Feb 14; 451(7180): 830–834. Published online 2008 Jan 30. doi: 10.1038/nature06529

PMCID:: PMC4262256

Abstract Article PDF–1.1M

Select item 41409985.

Novel Calmodulin (CALM2) Mutations Associated with Congenital Arrhythmia Susceptibility

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, Jr.

Circ Cardiovasc Genet. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Circ Cardiovasc Genet. 2014 Aug; 7(4): 466–474. Published online 2014 Jun 10. doi: 10.1161/CIRCGENETICS.113.000459

PMCID:: PMC4140998

Abstract Article PDF–2.4M

Select item 38347686.

Calmodulin Mutations Associated with Recurrent Cardiac Arrest in Infants

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, Jr.

Circulation. Author manuscript; available in PMC 2014 Mar 5.

Published in final edited form as: Circulation. 2013 Mar 5; 127(9): 10.1161/CIRCULATIONAHA.112.001216. Published online 2013 Feb 6. doi: 10.1161/CIRCULATIONAHA.112.001216

PMCID:: PMC3834768

Abstract Article PDF–2.9M

Select item 35535777.

Enzyme-inhibitor-like tuning of Ca²⁺ channel connectivity with calmodulin

Xiaodong Liu, Philemon S. Yang, Wanjun Yang, David T. Yue

Nature. Author manuscript; available in PMC 2013 Jan 24.

Published in final edited form as: Nature. 2010 Feb 18; 463(7283): 968–972. Published online 2010 Feb 7. doi: 10.1038/nature08766

Correction in:: volume 464 on page 1390

PMCID:: PMC3553577

Abstract Article PDF–553K

Select item 34846468.

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

Mette Nyegaard, Michael T. Overgaard, Mads T. Søndergaard, Marta Vranas, Elijah R. Behr, Lasse L. Hildebrandt, Jacob Lund, Paula L. Hedley, A. John Camm, Göran Wettrell, Inger Fosdal, Michael Christiansen, Anders D. Børglum

Am J Hum Genet. 2012 Oct 5; 91(4): 703–712. doi: 10.1016/j.ajhg.2012.08.015

PMCID:: PMC3484646

Abstract Article PDF–742K

Select item 3176769.

A calmodulin pseudogene on human chromosome 17.

B Sen Gupta, S D Detera-Wadleigh, O W McBride, F Friedberg

Nucleic Acids Res. 1989 Apr 11; 17(7): 2868. doi: 10.1093/nar/17.7.2868

PMCID:: PMC317676

Summary Page Browse PDF–115K

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