Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

By Nikki M. Plaster, R. Tawil, Martin Tristani-Firouzi, S. Canún, S. Bendahhou, Akiko Tsunoda, Matthew R. Donaldson, Susan T. Iannaccone, E. Brunt, R. Barohn and 12 more. Cell, 2001

1,012 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/b5cbce2915991ce06306eefb9b474b7566c8365c

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In Cardiology and Cardiovascular Medicine

In Molecular Biology

Citations in the corpus

MicroRNAs in development and disease. (2011, background): “In support, ablation or missense mutation of Cx43 (349) or IK1 (489), respectively, are associated with increased incidence of arrhythmias.”
Molecular physiology of cardiac repolarization. (2005, background): “, diseases linked to genes encoding ion channels (35, 123, 204, 220, 234, 243, 267, 309, 359, 403, 442, 459).”
hERG potassium channels and cardiac arrhythmia (2006, background): “Loss-of-function mutations in the inward rectifier K p channel ( I K1 ) gene KCNJ2 cause Andersen–Tawil syndrom”
PIP2 is a necessary cofactor for ion channel function: how and why? (2008, background): “Some mutant Kir channels associated with inherited diseases have increased susceptibility to modulation by stimuli that decrease membrane PIP2 levels, exacerbating the disease phenotype (61, 73).”
Inwardly rectifying potassium channels: their structure, function, and physiological roles. (2010, background): “1 have been identified in human inherited diseases of type II Bartter syndrome (V72E and D74Y) (755) and Andersen syndrome (Y68D, D71V, D71N, T74A, T75A, T75M, T75R, D78G, D78Y) (44, 123, 139, 622, 767) (see sects.”