FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2028553276> ?p ?o ?g. }

• W2028553276 endingPage "1066" @default.
• W2028553276 startingPage "1063" @default.
• W2028553276 abstract "Mutations in the Sonic hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (ZRS, located within the gene LMBR1), commonly called the ZRS), cause limb malformations. In humans, three classes of mutations have been proposed based on the limb phenotype; single base changes throughout the region cause preaxial polydactyly (PPD), single base changes at one specific site cause Werner mesomelic syndrome, and large duplications cause polysyndactyly. This study presents a novel mutation—a small insertion. In a Swedish family with autosomal-dominant PPD, we found a 13 base pair insertion within the ZRS, NG_009240.1:g.106934_106935insTAAGGAAGTGATT (traditional nomenclature: ZRS603ins13). Computational transcription factor-binding site predictions suggest that this insertion creates new binding sites and a mouse enhancer assay shows that this insertion causes ectopic gene expression. This study is the first to discover a small insertion in an enhancer that causes a human limb malformation and suggests a potential mechanism that could explain the ectopic expression caused by this mutation. Hum Mutat 33:1063–1066, 2012. © 2012 Wiley Periodicals, Inc." @default.
• W2028553276 created "2016-06-24" @default.
• W2028553276 creator A5012749944 @default.
• W2028553276 creator A5028422338 @default.
• W2028553276 creator A5037819644 @default.
• W2028553276 creator A5067527164 @default.
• W2028553276 creator A5073983360 @default.
• W2028553276 creator A5083782077 @default.
• W2028553276 creator A5085525898 @default.
• W2028553276 creator A5086023124 @default.
• W2028553276 creator A5086687499 @default.
• W2028553276 creator A5090767415 @default.
• W2028553276 date "2012-05-11" @default.
• W2028553276 modified "2023-10-16" @default.
• W2028553276 title "A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/<i>LMBR1</i>) causes preaxial polydactyly with triphalangeal thumb" @default.
• W2028553276 cites W1868418021 @default.
• W2028553276 cites W1974077672 @default.
• W2028553276 cites W2016310647 @default.
• W2028553276 cites W2026329878 @default.
• W2028553276 cites W2031167467 @default.
• W2028553276 cites W2050872153 @default.
• W2028553276 cites W2115403787 @default.
• W2028553276 cites W2141876905 @default.
• W2028553276 cites W2145144631 @default.
• W2028553276 cites W2156165829 @default.
• W2028553276 cites W2159761483 @default.
• W2028553276 cites W2161849959 @default.
• W2028553276 cites W2170936347 @default.
• W2028553276 doi "https://doi.org/10.1002/humu.22097" @default.
• W2028553276 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3370115" @default.
• W2028553276 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22495965" @default.
• W2028553276 hasPublicationYear "2012" @default.
• W2028553276 type Work @default.
• W2028553276 sameAs 2028553276 @default.
• W2028553276 citedByCount "27" @default.
• W2028553276 countsByYear W20285532762012 @default.
• W2028553276 countsByYear W20285532762013 @default.
• W2028553276 countsByYear W20285532762014 @default.
• W2028553276 countsByYear W20285532762015 @default.
• W2028553276 countsByYear W20285532762016 @default.
• W2028553276 countsByYear W20285532762017 @default.
• W2028553276 countsByYear W20285532762018 @default.
• W2028553276 countsByYear W20285532762019 @default.
• W2028553276 countsByYear W20285532762020 @default.
• W2028553276 countsByYear W20285532762021 @default.
• W2028553276 countsByYear W20285532762022 @default.
• W2028553276 crossrefType "journal-article" @default.
• W2028553276 hasAuthorship W2028553276A5012749944 @default.
• W2028553276 hasAuthorship W2028553276A5028422338 @default.
• W2028553276 hasAuthorship W2028553276A5037819644 @default.
• W2028553276 hasAuthorship W2028553276A5067527164 @default.
• W2028553276 hasAuthorship W2028553276A5073983360 @default.
• W2028553276 hasAuthorship W2028553276A5083782077 @default.
• W2028553276 hasAuthorship W2028553276A5085525898 @default.
• W2028553276 hasAuthorship W2028553276A5086023124 @default.
• W2028553276 hasAuthorship W2028553276A5086687499 @default.
• W2028553276 hasAuthorship W2028553276A5090767415 @default.
• W2028553276 hasBestOaLocation W20285532761 @default.
• W2028553276 hasConcept C104317684 @default.
• W2028553276 hasConcept C111936080 @default.
• W2028553276 hasConcept C158448853 @default.
• W2028553276 hasConcept C25770073 @default.
• W2028553276 hasConcept C2776637008 @default.
• W2028553276 hasConcept C2777267824 @default.
• W2028553276 hasConcept C2779329299 @default.
• W2028553276 hasConcept C54355233 @default.
• W2028553276 hasConcept C84013057 @default.
• W2028553276 hasConcept C86339819 @default.
• W2028553276 hasConcept C86370654 @default.
• W2028553276 hasConcept C86803240 @default.
• W2028553276 hasConcept C87073359 @default.
• W2028553276 hasConcept C97037327 @default.
• W2028553276 hasConcept C97182474 @default.
• W2028553276 hasConceptScore W2028553276C104317684 @default.
• W2028553276 hasConceptScore W2028553276C111936080 @default.
• W2028553276 hasConceptScore W2028553276C158448853 @default.
• W2028553276 hasConceptScore W2028553276C25770073 @default.
• W2028553276 hasConceptScore W2028553276C2776637008 @default.
• W2028553276 hasConceptScore W2028553276C2777267824 @default.
• W2028553276 hasConceptScore W2028553276C2779329299 @default.
• W2028553276 hasConceptScore W2028553276C54355233 @default.
• W2028553276 hasConceptScore W2028553276C84013057 @default.
• W2028553276 hasConceptScore W2028553276C86339819 @default.
• W2028553276 hasConceptScore W2028553276C86370654 @default.
• W2028553276 hasConceptScore W2028553276C86803240 @default.
• W2028553276 hasConceptScore W2028553276C87073359 @default.
• W2028553276 hasConceptScore W2028553276C97037327 @default.
• W2028553276 hasConceptScore W2028553276C97182474 @default.
• W2028553276 hasIssue "7" @default.
• W2028553276 hasLocation W20285532761 @default.
• W2028553276 hasLocation W20285532762 @default.
• W2028553276 hasLocation W20285532763 @default.
• W2028553276 hasLocation W20285532764 @default.
• W2028553276 hasOpenAccess W2028553276 @default.
• W2028553276 hasPrimaryLocation W20285532761 @default.
• W2028553276 hasRelatedWork W1524367666 @default.
• W2028553276 hasRelatedWork W2038499845 @default.
• W2028553276 hasRelatedWork W2064941027 @default.

• next