Matches in SemOpenAlex for { <https://semopenalex.org/work/W1998241150> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W1998241150 endingPage "261" @default.
- W1998241150 startingPage "255" @default.
- W1998241150 abstract "Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by maldevelopment of the first and second branchial arches, skin defects, facial dysmorphism, auricular, ophthalmological and oral abnormalities. A high clinical variability has been reported. Recently, mutations in <i>TFAP2A</i> were found to underlie this condition. A small duplication on 5q13 was detected in 2 family members with mild BOFS features. Molecular cytogenetic delineation of the duplication demonstrated that only 7 genes are affected: <i>LOC100289045, RGNEF, UTP15, ANKRA2, FUNDC2P1, BTF3</i> and <i>FOXD1</i>. The latter is expressed in the developing branchial arches and involved in cranio-facial development. Zebrafish embryos with combined inhibition of the expression of <i>foxd1l</i> and <i>tfap2a</i> show optic axis defects. We identified a novel locus associated with a mild BOFS-like phenotype. The functional in vivo experiments suggest an interaction between <i>FOXD1</i> and <i>TFAP2A</i>." @default.
- W1998241150 created "2016-06-24" @default.
- W1998241150 creator A5021071341 @default.
- W1998241150 creator A5025707086 @default.
- W1998241150 creator A5044268931 @default.
- W1998241150 creator A5073467702 @default.
- W1998241150 date "2010-01-01" @default.
- W1998241150 modified "2023-09-24" @default.
- W1998241150 title "<i>FOXD1</i> Duplication Causes Branchial Defects and Interacts with the <i>TFAP2A</i> Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish" @default.
- W1998241150 cites W1529788780 @default.
- W1998241150 cites W1577577364 @default.
- W1998241150 cites W1964690949 @default.
- W1998241150 cites W1983479163 @default.
- W1998241150 cites W1987435518 @default.
- W1998241150 cites W1987802697 @default.
- W1998241150 cites W2015689099 @default.
- W1998241150 cites W2019248666 @default.
- W1998241150 cites W2027095817 @default.
- W1998241150 cites W2029787649 @default.
- W1998241150 cites W2047894244 @default.
- W1998241150 cites W2051293392 @default.
- W1998241150 cites W2058702127 @default.
- W1998241150 cites W2070604049 @default.
- W1998241150 cites W2077406721 @default.
- W1998241150 cites W2079584632 @default.
- W1998241150 cites W2081090653 @default.
- W1998241150 cites W2101446132 @default.
- W1998241150 cites W2106381149 @default.
- W1998241150 cites W2114240336 @default.
- W1998241150 cites W2125349610 @default.
- W1998241150 cites W2129904436 @default.
- W1998241150 cites W2151584690 @default.
- W1998241150 cites W2159996969 @default.
- W1998241150 cites W2162480928 @default.
- W1998241150 cites W2410013207 @default.
- W1998241150 cites W645508545 @default.
- W1998241150 doi "https://doi.org/10.1159/000327707" @default.
- W1998241150 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3214949" @default.
- W1998241150 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22140378" @default.
- W1998241150 hasPublicationYear "2010" @default.
- W1998241150 type Work @default.
- W1998241150 sameAs 1998241150 @default.
- W1998241150 citedByCount "5" @default.
- W1998241150 countsByYear W19982411502017 @default.
- W1998241150 countsByYear W19982411502018 @default.
- W1998241150 countsByYear W19982411502020 @default.
- W1998241150 countsByYear W19982411502021 @default.
- W1998241150 crossrefType "journal-article" @default.
- W1998241150 hasAuthorship W1998241150A5021071341 @default.
- W1998241150 hasAuthorship W1998241150A5025707086 @default.
- W1998241150 hasAuthorship W1998241150A5044268931 @default.
- W1998241150 hasAuthorship W1998241150A5073467702 @default.
- W1998241150 hasBestOaLocation W19982411501 @default.
- W1998241150 hasConcept C104317684 @default.
- W1998241150 hasConcept C105702510 @default.
- W1998241150 hasConcept C196843134 @default.
- W1998241150 hasConcept C2776310010 @default.
- W1998241150 hasConcept C2776878037 @default.
- W1998241150 hasConcept C2778094651 @default.
- W1998241150 hasConcept C54355233 @default.
- W1998241150 hasConcept C71924100 @default.
- W1998241150 hasConcept C7602840 @default.
- W1998241150 hasConcept C84597430 @default.
- W1998241150 hasConcept C86803240 @default.
- W1998241150 hasConceptScore W1998241150C104317684 @default.
- W1998241150 hasConceptScore W1998241150C105702510 @default.
- W1998241150 hasConceptScore W1998241150C196843134 @default.
- W1998241150 hasConceptScore W1998241150C2776310010 @default.
- W1998241150 hasConceptScore W1998241150C2776878037 @default.
- W1998241150 hasConceptScore W1998241150C2778094651 @default.
- W1998241150 hasConceptScore W1998241150C54355233 @default.
- W1998241150 hasConceptScore W1998241150C71924100 @default.
- W1998241150 hasConceptScore W1998241150C7602840 @default.
- W1998241150 hasConceptScore W1998241150C84597430 @default.
- W1998241150 hasConceptScore W1998241150C86803240 @default.
- W1998241150 hasIssue "5" @default.
- W1998241150 hasLocation W19982411501 @default.
- W1998241150 hasLocation W19982411502 @default.
- W1998241150 hasLocation W19982411503 @default.
- W1998241150 hasLocation W19982411504 @default.
- W1998241150 hasOpenAccess W1998241150 @default.
- W1998241150 hasPrimaryLocation W19982411501 @default.
- W1998241150 hasRelatedWork W1886625688 @default.
- W1998241150 hasRelatedWork W2028087115 @default.
- W1998241150 hasRelatedWork W2057739827 @default.
- W1998241150 hasRelatedWork W2074557265 @default.
- W1998241150 hasRelatedWork W2075480531 @default.
- W1998241150 hasRelatedWork W2082451158 @default.
- W1998241150 hasRelatedWork W2104498991 @default.
- W1998241150 hasRelatedWork W2117622867 @default.
- W1998241150 hasRelatedWork W2954044368 @default.
- W1998241150 hasRelatedWork W4233150668 @default.
- W1998241150 hasVolume "1" @default.
- W1998241150 isParatext "false" @default.
- W1998241150 isRetracted "false" @default.
- W1998241150 magId "1998241150" @default.
- W1998241150 workType "article" @default.