| http://purl.uniprot.org/citations/19285295 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19285295 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19285295 | http://www.w3.org/2000/01/rdf-schema#comment | "Idiopathic Ventricular Fibrillation (IVF) is defined as spontaneous VF without any known structural or electrical heart disease. A family history is present in up to 20% of probands with the disorder, suggesting that at least a subset of IVF is hereditary. A genome-wide haplotype-sharing analysis was performed for identification of the responsible gene in three distantly related families in which multiple individuals died suddenly or were successfully resuscitated at young age. We identified a haplotype, on chromosome 7q36, that was conserved in these three families and was also shared by 7 of 42 independent IVF patients. The shared chromosomal segment harbors part of the DPP6 gene, which encodes a putative component of the transient outward current in the heart. We demonstrated a 20-fold increase in DPP6 mRNA levels in the myocardium of carriers as compared to controls. Clinical evaluation of 84 risk-haplotype carriers and 71 noncarriers revealed no ECG or structural parameters indicative of cardiac disease. Penetrance of IVF was high; 50% of risk-haplotype carriers experienced (aborted) sudden cardiac death before the age of 58 years. We propose DPP6 as a gene for IVF and increased DPP6 expression as the likely pathogenetic mechanism."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2009.02.009"xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2009.02.009"xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Loh P."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Loh P."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Alders M."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Alders M."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Koopmann T.T."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Koopmann T.T."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Beekman L."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Beekman L."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Bezzina C.R."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Bezzina C.R."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Wilde A.A."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Wilde A.A."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Mannens M.M."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Mannens M.M."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Christiaans I."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Christiaans I."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Demolombe S."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Demolombe S."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Koch K.T."xsd:string |
| http://purl.uniprot.org/citations/19285295 | http://purl.uniprot.org/core/author | "Koch K.T."xsd:string |