Matches in SemOpenAlex for { <https://semopenalex.org/work/W2011302218> ?p ?o ?g. }
Showing items 1 to 51 of
51
with 100 items per page.
- W2011302218 endingPage "511" @default.
- W2011302218 startingPage "511" @default.
- W2011302218 abstract "<h3>ABSTRACT</h3> Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the <i>LBX1</i>/<i>FGF8</i> locus. Yet, the disease patho-mechanism remains unsolved. Here we investigated the functional consequences of SHFM3-associated rearrangements on chromatin conformation and gene expression <i>in vivo</i> in transgenic mice. We show that the <i>Lbx1</i>/<i>Fgf8</i> locus consists of two separate, but interacting, regulatory domains. Re-engineering of a SHFM3-associated duplication and a newly reported inversion in mice resulted in restructuring of the chromatin architecture. This led to an ectopic activation of the <i>Lbx1</i> and <i>Btrc</i> genes in the apical ectodermal ridge (AER) in an <i>Fgf8-</i>like pattern. Artificial repositioning of the AER-specific enhancers of <i>Fgf8</i> was sufficient to induce misexpression of <i>Lbx1</i> and <i>Btrc</i>. We provide evidence that the SHFM3 phenotype is the result of a combinatorial effect on gene misexpression and dosage in the developing limb. Our results reveal new insights into the molecular mechanism underlying SHFM3 and provide novel conceptual framework for how genomic rearrangements can cause gene misexpression and disease." @default.
- W2011302218 created "2016-06-24" @default.
- W2011302218 creator A5029041061 @default.
- W2011302218 creator A5029245175 @default.
- W2011302218 creator A5086866757 @default.
- W2011302218 date "1994-06-01" @default.
- W2011302218 modified "2023-09-25" @default.
- W2011302218 title "Visual loss in AIDS patients" @default.
- W2011302218 cites W2020807075 @default.
- W2011302218 cites W2051204082 @default.
- W2011302218 cites W2070261345 @default.
- W2011302218 doi "https://doi.org/10.1136/bjo.78.6.511-b" @default.
- W2011302218 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/504850" @default.
- W2011302218 hasPublicationYear "1994" @default.
- W2011302218 type Work @default.
- W2011302218 sameAs 2011302218 @default.
- W2011302218 citedByCount "0" @default.
- W2011302218 crossrefType "journal-article" @default.
- W2011302218 hasAuthorship W2011302218A5029041061 @default.
- W2011302218 hasAuthorship W2011302218A5029245175 @default.
- W2011302218 hasAuthorship W2011302218A5086866757 @default.
- W2011302218 hasBestOaLocation W20113022181 @default.
- W2011302218 hasConcept C118487528 @default.
- W2011302218 hasConcept C119767625 @default.
- W2011302218 hasConcept C71924100 @default.
- W2011302218 hasConceptScore W2011302218C118487528 @default.
- W2011302218 hasConceptScore W2011302218C119767625 @default.
- W2011302218 hasConceptScore W2011302218C71924100 @default.
- W2011302218 hasIssue "6" @default.
- W2011302218 hasLocation W20113022181 @default.
- W2011302218 hasLocation W20113022182 @default.
- W2011302218 hasLocation W20113022183 @default.
- W2011302218 hasOpenAccess W2011302218 @default.
- W2011302218 hasPrimaryLocation W20113022181 @default.
- W2011302218 hasRelatedWork W1025112007 @default.
- W2011302218 hasRelatedWork W2464763775 @default.
- W2011302218 hasRelatedWork W2468673121 @default.
- W2011302218 hasRelatedWork W2647641574 @default.
- W2011302218 hasRelatedWork W2993487851 @default.
- W2011302218 hasRelatedWork W827435971 @default.
- W2011302218 hasRelatedWork W831423387 @default.
- W2011302218 hasRelatedWork W2535027139 @default.
- W2011302218 hasRelatedWork W2588051742 @default.
- W2011302218 hasRelatedWork W3028789648 @default.
- W2011302218 hasVolume "78" @default.
- W2011302218 isParatext "false" @default.
- W2011302218 isRetracted "false" @default.
- W2011302218 magId "2011302218" @default.
- W2011302218 workType "article" @default.