| http://purl.uniprot.org/citations/12750403 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12750403 | http://www.w3.org/2000/01/rdf-schema#comment | "The cardiac pacemaker current I(f) is a major determinant of diastolic depolarization in sinus nodal cells and has a key role in heartbeat generation. Therefore, we hypothesized that some forms of "idiopathic" sinus node dysfunction (SND) are related to inherited dysfunctions of cardiac pacemaker ion channels. In a candidate gene approach, a heterozygous 1-bp deletion (1631delC) in exon 5 of the human HCN4 gene was detected in a patient with idiopathic SND. The mutant HCN4 protein (HCN4-573X) had a truncated C-terminus and lacked the cyclic nucleotide-binding domain. COS-7 cells transiently transfected with HCN4-573X cDNA indicated normal intracellular trafficking and membrane integration of HCN4-573X subunits. Patch-clamp experiments showed that HCN4-573X channels mediated I(f)-like currents that were insensitive to increased cellular cAMP levels. Coexpression experiments showed a dominant-negative effect of HCN4-573X subunits on wild-type subunits. These data indicate that the cardiac I(f) channels are functionally expressed but with altered biophysical properties. Taken together, the clinical, genetic, and in vitro data provide a likely explanation for the patient's sinus bradycardia and the chronotropic incompetence."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci16387"xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Pongs O."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Neu A."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Isbrandt D."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Schulze-Bahr E."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Breithardt G."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Kaupp U.B."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/author | "Friederich P."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/pages | "1537-1545"xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/title | "Pacemaker channel dysfunction in a patient with sinus node disease."xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://purl.uniprot.org/core/volume | "111"xsd:string |
| http://purl.uniprot.org/citations/12750403 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12750403 |
| http://purl.uniprot.org/citations/12750403 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12750403 |
| http://purl.uniprot.org/uniprot/Q9Y3Q4#attribution-2986BA55A39391BCEDDDAE0BE9194891 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/12750403 |
| http://purl.uniprot.org/uniprot/Q9Y3Q4#attribution-D22891967010D8C8B3494BD1370B23CE | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/12750403 |
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| http://purl.uniprot.org/uniprot/Q9Y3Q4 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/12750403 |