FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1530928503> ?p ?o ?g. }

• W1530928503 endingPage "43" @default.
• W1530928503 startingPage "32" @default.
• W1530928503 abstract "Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the a subunit of the potassium channel Kir2.1, were identified in patients with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and represents the first link between cardiac and skeletal muscle excitability. The arrhythmias observed in ATS are distinctive; patients may be asymptomatic, or minimally symptomatic despite a high arrhythmia burden with frequent ventricular ectopy and bidirectional ventricular tachycardia. However, patients remain at risk for life-threatening arrhythmias, including torsades de pointes and ventricular fibrillation, albeit less commonly than observed in other genetic arrhythmia syndromes. The characteristic heterogeneity at both the genotypic and phenotypic levels contribute to the continued difficulties with appropriate diagnosis, risk stratification, and effective therapy. The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and our understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potential." @default.
• W1530928503 created "2016-06-24" @default.
• W1530928503 creator A5000717517 @default.
• W1530928503 creator A5013928675 @default.
• W1530928503 creator A5049841943 @default.
• W1530928503 date "2006-01-01" @default.
• W1530928503 modified "2023-09-29" @default.
• W1530928503 title "Andersen-Tawil syndrome." @default.
• W1530928503 cites W1512781775 @default.
• W1530928503 cites W1792258694 @default.
• W1530928503 cites W2000023611 @default.
• W1530928503 cites W2012711335 @default.
• W1530928503 cites W2014126133 @default.
• W1530928503 cites W2016762400 @default.
• W1530928503 cites W2017263107 @default.
• W1530928503 cites W2040229956 @default.
• W1530928503 cites W2049416240 @default.
• W1530928503 cites W2056257770 @default.
• W1530928503 cites W2057406399 @default.
• W1530928503 cites W2063406006 @default.
• W1530928503 cites W2068131693 @default.
• W1530928503 cites W2068524893 @default.
• W1530928503 cites W2069699972 @default.
• W1530928503 cites W2078673298 @default.
• W1530928503 cites W2079848532 @default.
• W1530928503 cites W2081524260 @default.
• W1530928503 cites W2086395895 @default.
• W1530928503 cites W2105949069 @default.
• W1530928503 cites W2109767317 @default.
• W1530928503 cites W2119278180 @default.
• W1530928503 cites W2125864491 @default.
• W1530928503 cites W2132723846 @default.
• W1530928503 cites W2134804387 @default.
• W1530928503 cites W2145253150 @default.
• W1530928503 cites W2153848206 @default.
• W1530928503 cites W2153999490 @default.
• W1530928503 cites W2157033897 @default.
• W1530928503 cites W2157788198 @default.
• W1530928503 cites W2161424604 @default.
• W1530928503 cites W2162311900 @default.
• W1530928503 cites W2269745365 @default.
• W1530928503 cites W2334363451 @default.
• W1530928503 cites W2404741261 @default.
• W1530928503 cites W2419098828 @default.
• W1530928503 cites W3094309763 @default.
• W1530928503 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1501096" @default.
• W1530928503 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16943893" @default.
• W1530928503 hasPublicationYear "2006" @default.
• W1530928503 type Work @default.
• W1530928503 sameAs 1530928503 @default.
• W1530928503 citedByCount "21" @default.
• W1530928503 countsByYear W15309285032012 @default.
• W1530928503 countsByYear W15309285032013 @default.
• W1530928503 countsByYear W15309285032015 @default.
• W1530928503 countsByYear W15309285032017 @default.
• W1530928503 countsByYear W15309285032018 @default.
• W1530928503 countsByYear W15309285032019 @default.
• W1530928503 countsByYear W15309285032021 @default.
• W1530928503 countsByYear W15309285032022 @default.
• W1530928503 crossrefType "journal-article" @default.
• W1530928503 hasAuthorship W1530928503A5000717517 @default.
• W1530928503 hasAuthorship W1530928503A5013928675 @default.
• W1530928503 hasAuthorship W1530928503A5049841943 @default.
• W1530928503 hasConcept C113217602 @default.
• W1530928503 hasConcept C118441451 @default.
• W1530928503 hasConcept C126322002 @default.
• W1530928503 hasConcept C141071460 @default.
• W1530928503 hasConcept C164705383 @default.
• W1530928503 hasConcept C190712762 @default.
• W1530928503 hasConcept C2776331378 @default.
• W1530928503 hasConcept C2776532573 @default.
• W1530928503 hasConcept C2777382798 @default.
• W1530928503 hasConcept C2777910003 @default.
• W1530928503 hasConcept C2777989426 @default.
• W1530928503 hasConcept C2778178275 @default.
• W1530928503 hasConcept C2778242168 @default.
• W1530928503 hasConcept C2779161974 @default.
• W1530928503 hasConcept C2779578097 @default.
• W1530928503 hasConcept C2779618896 @default.
• W1530928503 hasConcept C2779703243 @default.
• W1530928503 hasConcept C2779837460 @default.
• W1530928503 hasConcept C2780486423 @default.
• W1530928503 hasConcept C2781005686 @default.
• W1530928503 hasConcept C519063684 @default.
• W1530928503 hasConcept C71924100 @default.
• W1530928503 hasConceptScore W1530928503C113217602 @default.
• W1530928503 hasConceptScore W1530928503C118441451 @default.
• W1530928503 hasConceptScore W1530928503C126322002 @default.
• W1530928503 hasConceptScore W1530928503C141071460 @default.
• W1530928503 hasConceptScore W1530928503C164705383 @default.
• W1530928503 hasConceptScore W1530928503C190712762 @default.
• W1530928503 hasConceptScore W1530928503C2776331378 @default.
• W1530928503 hasConceptScore W1530928503C2776532573 @default.
• W1530928503 hasConceptScore W1530928503C2777382798 @default.
• W1530928503 hasConceptScore W1530928503C2777910003 @default.
• W1530928503 hasConceptScore W1530928503C2777989426 @default.
• W1530928503 hasConceptScore W1530928503C2778178275 @default.
• W1530928503 hasConceptScore W1530928503C2778242168 @default.

• next