FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1997533923> ?p ?o ?g. }

• W1997533923 endingPage "548" @default.
• W1997533923 startingPage "543" @default.
• W1997533923 abstract "Junctophilin subtypes, designated as JPH1∼4, are protein components of junctional complexes and play essential roles in cellular Ca2+ signaling in excitable cells. Knockout mice lacking the cardiac-type Jph2 die of embryonic cardiac arrest, and the mutant cardiac myocytes exhibit impaired formation of peripheral couplings and arrhythmic Ca2+ signaling caused by functional uncoupling between dihydropyridine and ryanodine receptor channels. Based on these observations, we hypothesized that mutations of JPH2 could cause human genetic cardiac diseases. Among 195 Japanese patients (148 index cases and 47 affected family members) with hypertrophic cardiomyopathy (HCM), two heterozygous nonsynonymous nucleotide transitions, G505S and R436C, were newly found in JPH2. When Fisher’s exact test was used to compare index cases with HCM to unrelated Japanese healthy controls in the frequencies of mutant alleles, only the G505S mutation showed statistical significance (4/296 HCM patients and 0/472 control individuals, P=0.022). This result was still significant after Bonferroni’s correction for multiple comparisons (P=0.044). To the best of our knowledge, this is the first report on JPH2 mutation associated with HCM." @default.
• W1997533923 created "2016-06-24" @default.
• W1997533923 creator A5000894813 @default.
• W1997533923 creator A5012989108 @default.
• W1997533923 creator A5022288614 @default.
• W1997533923 creator A5024358171 @default.
• W1997533923 creator A5038394043 @default.
• W1997533923 creator A5044260239 @default.
• W1997533923 creator A5050216976 @default.
• W1997533923 creator A5067586269 @default.
• W1997533923 creator A5072163490 @default.
• W1997533923 date "2007-05-03" @default.
• W1997533923 modified "2023-10-14" @default.
• W1997533923 title "Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy" @default.
• W1997533923 cites W1489130191 @default.
• W1997533923 cites W1529439802 @default.
• W1997533923 cites W1929291486 @default.
• W1997533923 cites W1966187802 @default.
• W1997533923 cites W1971255655 @default.
• W1997533923 cites W1976808979 @default.
• W1997533923 cites W1982338915 @default.
• W1997533923 cites W1995628893 @default.
• W1997533923 cites W2011407953 @default.
• W1997533923 cites W2018574166 @default.
• W1997533923 cites W2021450321 @default.
• W1997533923 cites W2044294967 @default.
• W1997533923 cites W2045143786 @default.
• W1997533923 cites W2051075735 @default.
• W1997533923 cites W2062084799 @default.
• W1997533923 cites W2072881240 @default.
• W1997533923 cites W2080112003 @default.
• W1997533923 cites W2082231490 @default.
• W1997533923 cites W2084140416 @default.
• W1997533923 cites W2085025968 @default.
• W1997533923 cites W2114942701 @default.
• W1997533923 cites W2122005870 @default.
• W1997533923 cites W2127817270 @default.
• W1997533923 cites W2129968803 @default.
• W1997533923 cites W2138450406 @default.
• W1997533923 cites W2143897160 @default.
• W1997533923 cites W2152916512 @default.
• W1997533923 cites W4211091077 @default.
• W1997533923 cites W4251493542 @default.
• W1997533923 doi "https://doi.org/10.1007/s10038-007-0149-y" @default.
• W1997533923 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17476457" @default.
• W1997533923 hasPublicationYear "2007" @default.
• W1997533923 type Work @default.
• W1997533923 sameAs 1997533923 @default.
• W1997533923 citedByCount "76" @default.
• W1997533923 countsByYear W19975339232012 @default.
• W1997533923 countsByYear W19975339232013 @default.
• W1997533923 countsByYear W19975339232014 @default.
• W1997533923 countsByYear W19975339232015 @default.
• W1997533923 countsByYear W19975339232016 @default.
• W1997533923 countsByYear W19975339232017 @default.
• W1997533923 countsByYear W19975339232018 @default.
• W1997533923 countsByYear W19975339232019 @default.
• W1997533923 countsByYear W19975339232020 @default.
• W1997533923 countsByYear W19975339232021 @default.
• W1997533923 countsByYear W19975339232022 @default.
• W1997533923 countsByYear W19975339232023 @default.
• W1997533923 crossrefType "journal-article" @default.
• W1997533923 hasAuthorship W1997533923A5000894813 @default.
• W1997533923 hasAuthorship W1997533923A5012989108 @default.
• W1997533923 hasAuthorship W1997533923A5022288614 @default.
• W1997533923 hasAuthorship W1997533923A5024358171 @default.
• W1997533923 hasAuthorship W1997533923A5038394043 @default.
• W1997533923 hasAuthorship W1997533923A5044260239 @default.
• W1997533923 hasAuthorship W1997533923A5050216976 @default.
• W1997533923 hasAuthorship W1997533923A5067586269 @default.
• W1997533923 hasAuthorship W1997533923A5072163490 @default.
• W1997533923 hasBestOaLocation W19975339231 @default.
• W1997533923 hasConcept C104317684 @default.
• W1997533923 hasConcept C113217602 @default.
• W1997533923 hasConcept C126322002 @default.
• W1997533923 hasConcept C134018914 @default.
• W1997533923 hasConcept C141231307 @default.
• W1997533923 hasConcept C143065580 @default.
• W1997533923 hasConcept C149904235 @default.
• W1997533923 hasConcept C170493617 @default.
• W1997533923 hasConcept C207200792 @default.
• W1997533923 hasConcept C2778198053 @default.
• W1997533923 hasConcept C2778797674 @default.
• W1997533923 hasConcept C2780185194 @default.
• W1997533923 hasConcept C501734568 @default.
• W1997533923 hasConcept C54355233 @default.
• W1997533923 hasConcept C55493867 @default.
• W1997533923 hasConcept C71924100 @default.
• W1997533923 hasConcept C75563809 @default.
• W1997533923 hasConcept C86803240 @default.
• W1997533923 hasConceptScore W1997533923C104317684 @default.
• W1997533923 hasConceptScore W1997533923C113217602 @default.
• W1997533923 hasConceptScore W1997533923C126322002 @default.
• W1997533923 hasConceptScore W1997533923C134018914 @default.
• W1997533923 hasConceptScore W1997533923C141231307 @default.
• W1997533923 hasConceptScore W1997533923C143065580 @default.
• W1997533923 hasConceptScore W1997533923C149904235 @default.
• W1997533923 hasConceptScore W1997533923C170493617 @default.

• next