FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2902778981> ?p ?o ?g. }

• W2902778981 endingPage "148" @default.
• W2902778981 startingPage "139" @default.
• W2902778981 abstract "To gain insight into the mechanisms underlying KCNQ2 encephalopathy by examining the electrophysiologic properties of mutant Kv7.2 channels in different multimeric configurations.We analyzed the genotype-phenotype relationship in 4 patients with KCNQ2 encephalopathy and performed electrophysiologic analysis of M-currents mediated by homomeric Kv7.2 or heteromeric Kv7.2/Kv7.3 channels.Negligible or no current was recorded in cells expressing homomeric E130K, W270R, or G281R de novo mutants, and it was reduced by more than 90% for the L243F maternally inherited mutant. The E130K and G281R mutants presented a marked dominant-negative behavior, whereas the current density was partially reduced (L243F) or not affected (W270R) when coexpressed with wild-type Kv7.2 subunits. In contrast, the extent of Kv7.3 rescue, which yields negligible currents on its own, followed the sequence E130K > L243F > W270R, whereas no rescue was observed with the G281R mutant. No significant effects on current density were observed when subunits were expressed in a 0.5:0.5:1.0 (Kv7.2:mutant:Kv7.3) DNA ratio to mimic the genetic balance. There was an increase in sensitivity to phosphatidylinositol 4,5-bisphosphate (PIP2 ) depletion for W270R/Kv7.3, but no substantial differences were observed when the mutated subunits were coexpressed with Kv7.2 or both Kv7.2 and Kv7.3.There was a marked disparity of the impact of these mutations on Kv7.2 function, which varied on association with Kv7.2 or Kv7.3 subunits. Current density of homomeric channels was the most reliable property relating Kv7.2 function to encephalopathy, but other factors are required to explain the milder phenotype for some individuals carrying the maternally inherited L243F mutation. We hypothesize that the role of homomeric Kv7.2 channels for fine-tuning neuronal connections during development is critical for the severity of the KCNQ2 encephalopathy." @default.
• W2902778981 created "2018-12-11" @default.
• W2902778981 creator A5002683933 @default.
• W2902778981 creator A5007104058 @default.
• W2902778981 creator A5049181650 @default.
• W2902778981 creator A5060155389 @default.
• W2902778981 creator A5066611040 @default.
• W2902778981 creator A5067208971 @default.
• W2902778981 creator A5067457857 @default.
• W2902778981 creator A5069323136 @default.
• W2902778981 creator A5089685420 @default.
• W2902778981 date "2018-11-26" @default.
• W2902778981 modified "2023-10-08" @default.
• W2902778981 title "Homomeric Kv7.2 current suppression is a common feature in <i>KCNQ2</i> epileptic encephalopathy" @default.
• W2902778981 cites W1892287811 @default.
• W2902778981 cites W1930684376 @default.
• W2902778981 cites W1969821462 @default.
• W2902778981 cites W1988595550 @default.
• W2902778981 cites W1988903037 @default.
• W2902778981 cites W1989051772 @default.
• W2902778981 cites W1995644407 @default.
• W2902778981 cites W2007657111 @default.
• W2902778981 cites W2019942525 @default.
• W2902778981 cites W2034163951 @default.
• W2902778981 cites W2088826438 @default.
• W2902778981 cites W2094902307 @default.
• W2902778981 cites W2096480200 @default.
• W2902778981 cites W2096723321 @default.
• W2902778981 cites W2097194883 @default.
• W2902778981 cites W2101309147 @default.
• W2902778981 cites W2101856836 @default.
• W2902778981 cites W2112272723 @default.
• W2902778981 cites W2112922820 @default.
• W2902778981 cites W2120480653 @default.
• W2902778981 cites W2121919617 @default.
• W2902778981 cites W2132352566 @default.
• W2902778981 cites W2135893137 @default.
• W2902778981 cites W2152053203 @default.
• W2902778981 cites W2162891493 @default.
• W2902778981 cites W2176205911 @default.
• W2902778981 cites W2266938519 @default.
• W2902778981 cites W2510997308 @default.
• W2902778981 cites W2550390537 @default.
• W2902778981 cites W2559366165 @default.
• W2902778981 cites W2620982682 @default.
• W2902778981 cites W327759102 @default.
• W2902778981 doi "https://doi.org/10.1111/epi.14609" @default.
• W2902778981 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30478917" @default.
• W2902778981 hasPublicationYear "2018" @default.
• W2902778981 type Work @default.
• W2902778981 sameAs 2902778981 @default.
• W2902778981 citedByCount "20" @default.
• W2902778981 countsByYear W29027789812019 @default.
• W2902778981 countsByYear W29027789812020 @default.
• W2902778981 countsByYear W29027789812021 @default.
• W2902778981 countsByYear W29027789812022 @default.
• W2902778981 countsByYear W29027789812023 @default.
• W2902778981 crossrefType "journal-article" @default.
• W2902778981 hasAuthorship W2902778981A5002683933 @default.
• W2902778981 hasAuthorship W2902778981A5007104058 @default.
• W2902778981 hasAuthorship W2902778981A5049181650 @default.
• W2902778981 hasAuthorship W2902778981A5060155389 @default.
• W2902778981 hasAuthorship W2902778981A5066611040 @default.
• W2902778981 hasAuthorship W2902778981A5067208971 @default.
• W2902778981 hasAuthorship W2902778981A5067457857 @default.
• W2902778981 hasAuthorship W2902778981A5069323136 @default.
• W2902778981 hasAuthorship W2902778981A5089685420 @default.
• W2902778981 hasBestOaLocation W29027789811 @default.
• W2902778981 hasConcept C104292427 @default.
• W2902778981 hasConcept C104317684 @default.
• W2902778981 hasConcept C143065580 @default.
• W2902778981 hasConcept C2776104367 @default.
• W2902778981 hasConcept C501734568 @default.
• W2902778981 hasConcept C54355233 @default.
• W2902778981 hasConcept C86803240 @default.
• W2902778981 hasConcept C95444343 @default.
• W2902778981 hasConceptScore W2902778981C104292427 @default.
• W2902778981 hasConceptScore W2902778981C104317684 @default.
• W2902778981 hasConceptScore W2902778981C143065580 @default.
• W2902778981 hasConceptScore W2902778981C2776104367 @default.
• W2902778981 hasConceptScore W2902778981C501734568 @default.
• W2902778981 hasConceptScore W2902778981C54355233 @default.
• W2902778981 hasConceptScore W2902778981C86803240 @default.
• W2902778981 hasConceptScore W2902778981C95444343 @default.
• W2902778981 hasFunder F4320326262 @default.
• W2902778981 hasIssue "1" @default.
• W2902778981 hasLocation W29027789811 @default.
• W2902778981 hasLocation W29027789812 @default.
• W2902778981 hasOpenAccess W2902778981 @default.
• W2902778981 hasPrimaryLocation W29027789811 @default.
• W2902778981 hasRelatedWork W101124211 @default.
• W2902778981 hasRelatedWork W1983171985 @default.
• W2902778981 hasRelatedWork W2002128513 @default.
• W2902778981 hasRelatedWork W2009647017 @default.
• W2902778981 hasRelatedWork W2064207257 @default.
• W2902778981 hasRelatedWork W2156423843 @default.
• W2902778981 hasRelatedWork W2156674132 @default.
• W2902778981 hasRelatedWork W4289711478 @default.

• next