A gain-of-function mutation in the cardiac pacemaker HCN4 channel increasing cAMP sensitivity is associated with familial Inappropriate Sinus Tachycardia.
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Mirko
M
Baruscotti
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Annalisa
A
Bucchi
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Raffaella
R
Milanesi
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Manuel
M
Paina
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Andrea
A
Barbuti
Department of Cardiology, San Leopoldo Mandic Hospital, Merate, Italy.
Tomaso
T
Gnecchi-Ruscone
Cardiovascular Department, 'Ospedali Riuniti di Trieste', University Hospital, Trieste, Italy.
Elisabetta
E
Bianco
II Medical Department, Cardiology, Klinikum Coburg, Coburg, Germany.
Laura
L
Vitali-Serdoz
Riccardo
R
Cappato
Department of Biosciences, The PaceLab and 'Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata', Università degli Studi di Milano, via Celoria 26, 20133 Milano, Italy.
Dario
D
DiFrancesco
D000242:Cyclic AMP / Q000502:physiology; D005260:Female; D000073659:Gain of Function Mutation / Q000235:genetics*; D057809:HEK293 Cells; D006801:Humans; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D050505:Mutant Proteins / Q000378:metabolism; D032383:Myocytes, Cardiac / Q000378:metabolism / Q000502:physiology; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D012008:Recurrence; D013575:Syncope / Q000235:genetics; D013616:Tachycardia, Sinus / Q000235:genetics*
C119587:HCN4 protein, human; D064428:Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels; D009124:Muscle Proteins; D050505:Mutant Proteins; D015221:Potassium Channels; D000242:Cyclic AMP