FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068713060> ?p ?o ?g. }

• W2068713060 endingPage "146" @default.
• W2068713060 startingPage "142" @default.
• W2068713060 abstract "Long-QT syndrome (LQTS) is a disorder of ventricular repolarization characterized by a prolonged QT interval, syncope, seizures, and sudden death. Recently, three forms of LQTS have been shown to result from mutations in potassium or sodium ion channel genes: KVLQT1 for LQT1, HERG for LQT2, and SCN5A for LQT3. IsK, an apparent potassium channel subunit encoded by KCNE1 on chromosome 21, regulates both KVLQT1 and HERG. This relationship makes KCNE1 a likely candidate gene, because mutations of these genes are known to cause both the autosomal dominant Romano-Ward and recessive Jervell and Lange-Nielsen (JLN) forms of LQTS.We screened 84 unrelated patients with Romano-Ward and 4 with JLN for possible mutations in KCNE1. We identified one homozygous mutation in a JLN patient that results in the nonconservative substitution of Asn for Asp at amino acid 76. The patient is congenitally deaf-mute, with recurrent syncopal events and a greatly prolonged QTc interval. The proband's mother and half-sister are both heterozygous for this mutation. Remarkably, both these family members have prolonged QTc intervals and would have been classified as Romano-Ward patients if not for the proband's diagnosis of JLN. This mutation was not identified in more than 100 control individuals.These data provide strong evidence that KCNE1 mutations represent a fifth LQTS locus (LQT5). Further functional analysis, as well as the identification of more LQTS patients with KCNE1 mutations, will be important to confirm the role of IsK in LQTS." @default.
• W2068713060 created "2016-06-24" @default.
• W2068713060 creator A5015030925 @default.
• W2068713060 creator A5040461830 @default.
• W2068713060 creator A5056568766 @default.
• W2068713060 creator A5059140681 @default.
• W2068713060 creator A5076618999 @default.
• W2068713060 creator A5080343068 @default.
• W2068713060 date "1998-01-20" @default.
• W2068713060 modified "2023-10-18" @default.
• W2068713060 title "Mutation of the Gene for <i>I</i> sK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome" @default.
• W2068713060 cites W1640055584 @default.
• W2068713060 cites W1968098810 @default.
• W2068713060 cites W1979005514 @default.
• W2068713060 cites W1983137097 @default.
• W2068713060 cites W1990913409 @default.
• W2068713060 cites W1991662012 @default.
• W2068713060 cites W1993885739 @default.
• W2068713060 cites W2000797730 @default.
• W2068713060 cites W2002422701 @default.
• W2068713060 cites W2022414157 @default.
• W2068713060 cites W2038427514 @default.
• W2068713060 cites W2074705578 @default.
• W2068713060 cites W2091280104 @default.
• W2068713060 cites W2093214695 @default.
• W2068713060 cites W2123124685 @default.
• W2068713060 cites W2129910735 @default.
• W2068713060 cites W2330959938 @default.
• W2068713060 cites W2412964569 @default.
• W2068713060 cites W2947557619 @default.
• W2068713060 cites W34582479 @default.
• W2068713060 doi "https://doi.org/10.1161/01.cir.97.2.142" @default.
• W2068713060 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9445165" @default.
• W2068713060 hasPublicationYear "1998" @default.
• W2068713060 type Work @default.
• W2068713060 sameAs 2068713060 @default.
• W2068713060 citedByCount "189" @default.
• W2068713060 countsByYear W20687130602012 @default.
• W2068713060 countsByYear W20687130602013 @default.
• W2068713060 countsByYear W20687130602014 @default.
• W2068713060 countsByYear W20687130602015 @default.
• W2068713060 countsByYear W20687130602016 @default.
• W2068713060 countsByYear W20687130602017 @default.
• W2068713060 countsByYear W20687130602018 @default.
• W2068713060 countsByYear W20687130602020 @default.
• W2068713060 countsByYear W20687130602021 @default.
• W2068713060 countsByYear W20687130602022 @default.
• W2068713060 countsByYear W20687130602023 @default.
• W2068713060 crossrefType "journal-article" @default.
• W2068713060 hasAuthorship W2068713060A5015030925 @default.
• W2068713060 hasAuthorship W2068713060A5040461830 @default.
• W2068713060 hasAuthorship W2068713060A5056568766 @default.
• W2068713060 hasAuthorship W2068713060A5059140681 @default.
• W2068713060 hasAuthorship W2068713060A5076618999 @default.
• W2068713060 hasAuthorship W2068713060A5080343068 @default.
• W2068713060 hasBestOaLocation W20687130601 @default.
• W2068713060 hasConcept C104317684 @default.
• W2068713060 hasConcept C118441451 @default.
• W2068713060 hasConcept C126322002 @default.
• W2068713060 hasConcept C164705383 @default.
• W2068713060 hasConcept C188997412 @default.
• W2068713060 hasConcept C2779362680 @default.
• W2068713060 hasConcept C2779703243 @default.
• W2068713060 hasConcept C2993353509 @default.
• W2068713060 hasConcept C501734568 @default.
• W2068713060 hasConcept C54355233 @default.
• W2068713060 hasConcept C71924100 @default.
• W2068713060 hasConcept C83743174 @default.
• W2068713060 hasConcept C86803240 @default.
• W2068713060 hasConceptScore W2068713060C104317684 @default.
• W2068713060 hasConceptScore W2068713060C118441451 @default.
• W2068713060 hasConceptScore W2068713060C126322002 @default.
• W2068713060 hasConceptScore W2068713060C164705383 @default.
• W2068713060 hasConceptScore W2068713060C188997412 @default.
• W2068713060 hasConceptScore W2068713060C2779362680 @default.
• W2068713060 hasConceptScore W2068713060C2779703243 @default.
• W2068713060 hasConceptScore W2068713060C2993353509 @default.
• W2068713060 hasConceptScore W2068713060C501734568 @default.
• W2068713060 hasConceptScore W2068713060C54355233 @default.
• W2068713060 hasConceptScore W2068713060C71924100 @default.
• W2068713060 hasConceptScore W2068713060C83743174 @default.
• W2068713060 hasConceptScore W2068713060C86803240 @default.
• W2068713060 hasIssue "2" @default.
• W2068713060 hasLocation W20687130601 @default.
• W2068713060 hasLocation W20687130602 @default.
• W2068713060 hasOpenAccess W2068713060 @default.
• W2068713060 hasPrimaryLocation W20687130601 @default.
• W2068713060 hasRelatedWork W130567547 @default.
• W2068713060 hasRelatedWork W1984829783 @default.
• W2068713060 hasRelatedWork W1995734690 @default.
• W2068713060 hasRelatedWork W2014862626 @default.
• W2068713060 hasRelatedWork W2029047959 @default.
• W2068713060 hasRelatedWork W2068713060 @default.
• W2068713060 hasRelatedWork W2075114454 @default.
• W2068713060 hasRelatedWork W2180517827 @default.
• W2068713060 hasRelatedWork W2410954309 @default.
• W2068713060 hasRelatedWork W2417224537 @default.
• W2068713060 hasVolume "97" @default.

• next