Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313236788> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W4313236788 endingPage "509" @default.
- W4313236788 startingPage "495" @default.
- W4313236788 abstract "RERE is a highly conserved transcriptional co-regulator that is associated with a human neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH, OMIM: 616975).We show that the zebrafish rerea mutant (babyface) robustly recapitulates optic fissure closure defects resulting from loss of RERE function, as observed in humans. These defects result from expansion of proximal retinal optic stalk (OS) and reduced expression of some of the ventral retinal fate genes due to deregulated protein signaling. Using zebrafish and cell-based assays, we determined that NEDBEH-associated human RERE variants function as hypomorphs in their ability to repress shh signaling and some exhibit abnormal nuclear localization. Inhibiting shh signaling by the protein inhibitor HPI-1 rescues coloboma, confirming our observation that coloboma in rerea mutants is indeed due to deregulation of shh signaling.Zebrafish rerea mutants exhibit OS and optic fissure closure defects. The optic fissure closure defect was rescued by an shh signaling inhibitor, suggesting that this defect could arise due to deregulated shh signaling." @default.
- W4313236788 created "2023-01-06" @default.
- W4313236788 creator A5012945819 @default.
- W4313236788 creator A5019455636 @default.
- W4313236788 creator A5061903947 @default.
- W4313236788 creator A5073412691 @default.
- W4313236788 creator A5091296451 @default.
- W4313236788 date "2023-01-10" @default.
- W4313236788 modified "2023-09-25" @default.
- W4313236788 title "Zebrafish model of <scp>RERE</scp> syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling" @default.
- W4313236788 cites W1967234593 @default.
- W4313236788 cites W1987034775 @default.
- W4313236788 cites W1994590647 @default.
- W4313236788 cites W2034018159 @default.
- W4313236788 cites W2040773841 @default.
- W4313236788 cites W2043579544 @default.
- W4313236788 cites W2052902096 @default.
- W4313236788 cites W2055622310 @default.
- W4313236788 cites W2057508202 @default.
- W4313236788 cites W2057669364 @default.
- W4313236788 cites W2059614045 @default.
- W4313236788 cites W2067872995 @default.
- W4313236788 cites W2068099401 @default.
- W4313236788 cites W2068786255 @default.
- W4313236788 cites W2072260623 @default.
- W4313236788 cites W2081407876 @default.
- W4313236788 cites W2082898912 @default.
- W4313236788 cites W2093782296 @default.
- W4313236788 cites W2108015718 @default.
- W4313236788 cites W2110821176 @default.
- W4313236788 cites W2126057356 @default.
- W4313236788 cites W2133571580 @default.
- W4313236788 cites W2136262485 @default.
- W4313236788 cites W2153260902 @default.
- W4313236788 cites W2155163432 @default.
- W4313236788 cites W2158654877 @default.
- W4313236788 cites W2166557407 @default.
- W4313236788 cites W2340147577 @default.
- W4313236788 cites W2411551996 @default.
- W4313236788 cites W2585379202 @default.
- W4313236788 cites W2897637459 @default.
- W4313236788 doi "https://doi.org/10.1002/dvdy.561" @default.
- W4313236788 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36576487" @default.
- W4313236788 hasPublicationYear "2023" @default.
- W4313236788 type Work @default.
- W4313236788 citedByCount "0" @default.
- W4313236788 crossrefType "journal-article" @default.
- W4313236788 hasAuthorship W4313236788A5012945819 @default.
- W4313236788 hasAuthorship W4313236788A5019455636 @default.
- W4313236788 hasAuthorship W4313236788A5061903947 @default.
- W4313236788 hasAuthorship W4313236788A5073412691 @default.
- W4313236788 hasAuthorship W4313236788A5091296451 @default.
- W4313236788 hasBestOaLocation W43132367881 @default.
- W4313236788 hasConcept C104317684 @default.
- W4313236788 hasConcept C114696181 @default.
- W4313236788 hasConcept C127716648 @default.
- W4313236788 hasConcept C136571751 @default.
- W4313236788 hasConcept C143065580 @default.
- W4313236788 hasConcept C2776064365 @default.
- W4313236788 hasConcept C2776637008 @default.
- W4313236788 hasConcept C2776878037 @default.
- W4313236788 hasConcept C54355233 @default.
- W4313236788 hasConcept C62478195 @default.
- W4313236788 hasConcept C86803240 @default.
- W4313236788 hasConcept C95444343 @default.
- W4313236788 hasConceptScore W4313236788C104317684 @default.
- W4313236788 hasConceptScore W4313236788C114696181 @default.
- W4313236788 hasConceptScore W4313236788C127716648 @default.
- W4313236788 hasConceptScore W4313236788C136571751 @default.
- W4313236788 hasConceptScore W4313236788C143065580 @default.
- W4313236788 hasConceptScore W4313236788C2776064365 @default.
- W4313236788 hasConceptScore W4313236788C2776637008 @default.
- W4313236788 hasConceptScore W4313236788C2776878037 @default.
- W4313236788 hasConceptScore W4313236788C54355233 @default.
- W4313236788 hasConceptScore W4313236788C62478195 @default.
- W4313236788 hasConceptScore W4313236788C86803240 @default.
- W4313236788 hasConceptScore W4313236788C95444343 @default.
- W4313236788 hasFunder F4320337350 @default.
- W4313236788 hasIssue "4" @default.
- W4313236788 hasLocation W43132367881 @default.
- W4313236788 hasLocation W43132367882 @default.
- W4313236788 hasOpenAccess W4313236788 @default.
- W4313236788 hasPrimaryLocation W43132367881 @default.
- W4313236788 hasRelatedWork W2037749599 @default.
- W4313236788 hasRelatedWork W2040773841 @default.
- W4313236788 hasRelatedWork W2046624631 @default.
- W4313236788 hasRelatedWork W2072260623 @default.
- W4313236788 hasRelatedWork W2094424127 @default.
- W4313236788 hasRelatedWork W2122911447 @default.
- W4313236788 hasRelatedWork W2136963255 @default.
- W4313236788 hasRelatedWork W2216367787 @default.
- W4313236788 hasRelatedWork W4313236788 @default.
- W4313236788 hasRelatedWork W2555554773 @default.
- W4313236788 hasVolume "252" @default.
- W4313236788 isParatext "false" @default.
- W4313236788 isRetracted "false" @default.
- W4313236788 workType "article" @default.