FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1963539488> ?p ?o ?g. }

• W1963539488 endingPage "27" @default.
• W1963539488 startingPage "19" @default.
• W1963539488 abstract "Polydactyly is a common malformation of vertebrate limbs. In humans a major locus for nonsyndromic pre-axial polydactyly (PPD) has been mapped previously to 7q36. The mouse Hemimelic extra-toes (Hx) mutation maps to a homologous chromosome segment and has been proposed to affect a homologous gene. To understand the molecular changes underlying PPD, we used a positional cloning approach to identify the gene or genes disrupted by the Hx mutation and a closely linked limb mutation, Hammertoe (Hm). High resolution genetic mapping identified a small candidate interval for the mouse mutations located 1.2 cM distal to the Shh locus. The nonrecombinant interval was completely cloned in bacterial artificial chromosomes and searched for genes using a combination of exon trapping, sample sequencing, and mapping of known genes. Two novel genes, Lmbr1 and Lmbr2, are entirely within the candidate interval we defined genetically. The open reading frame of both genes is intact in mutant mice, but the expression of the Lmbr1 gene is dramatically altered in developing limbs of Hx mutant mice. The correspondence between the spatial and temporal changes in Lmbr1 expression and the embryonic onset of the Hx mutant phenotype suggests that the mouse Hx mutation may be a regulatory allele of Lmbr1. The human ortholog of Lmbr1 maps within the recently described interval for human PPD, strengthening the possibility that both mouse and human limb abnormalities are due to defects in the same highly conserved gene." @default.
• W1963539488 created "2016-06-24" @default.
• W1963539488 creator A5037531376 @default.
• W1963539488 creator A5048133284 @default.
• W1963539488 creator A5078497620 @default.
• W1963539488 date "2000-07-01" @default.
• W1963539488 modified "2023-09-26" @default.
• W1963539488 title "A Novel Candidate Gene for Mouse and Human Preaxial Polydactyly with Altered Expression in Limbs of Hemimelic extra-toes Mutant Mice" @default.
• W1963539488 cites W1504525216 @default.
• W1963539488 cites W1593837562 @default.
• W1963539488 cites W1969889326 @default.
• W1963539488 cites W1970944716 @default.
• W1963539488 cites W1972253052 @default.
• W1963539488 cites W1992865216 @default.
• W1963539488 cites W2016401800 @default.
• W1963539488 cites W2017734636 @default.
• W1963539488 cites W2019836669 @default.
• W1963539488 cites W2041985900 @default.
• W1963539488 cites W2055043387 @default.
• W1963539488 cites W2055050547 @default.
• W1963539488 cites W2067705641 @default.
• W1963539488 cites W2068719237 @default.
• W1963539488 cites W2069398664 @default.
• W1963539488 cites W2070913297 @default.
• W1963539488 cites W2074922555 @default.
• W1963539488 cites W2077802746 @default.
• W1963539488 cites W2089962853 @default.
• W1963539488 cites W2105180222 @default.
• W1963539488 cites W2114455979 @default.
• W1963539488 cites W2120684043 @default.
• W1963539488 cites W2134029933 @default.
• W1963539488 cites W2153277457 @default.
• W1963539488 cites W2160220594 @default.
• W1963539488 cites W2185588425 @default.
• W1963539488 cites W4243630560 @default.
• W1963539488 doi "https://doi.org/10.1006/geno.2000.6225" @default.
• W1963539488 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10945466" @default.
• W1963539488 hasPublicationYear "2000" @default.
• W1963539488 type Work @default.
• W1963539488 sameAs 1963539488 @default.
• W1963539488 citedByCount "76" @default.
• W1963539488 countsByYear W19635394882012 @default.
• W1963539488 countsByYear W19635394882013 @default.
• W1963539488 countsByYear W19635394882014 @default.
• W1963539488 countsByYear W19635394882015 @default.
• W1963539488 countsByYear W19635394882016 @default.
• W1963539488 countsByYear W19635394882017 @default.
• W1963539488 countsByYear W19635394882019 @default.
• W1963539488 countsByYear W19635394882021 @default.
• W1963539488 countsByYear W19635394882022 @default.
• W1963539488 crossrefType "journal-article" @default.
• W1963539488 hasAuthorship W1963539488A5037531376 @default.
• W1963539488 hasAuthorship W1963539488A5048133284 @default.
• W1963539488 hasAuthorship W1963539488A5078497620 @default.
• W1963539488 hasConcept C104317684 @default.
• W1963539488 hasConcept C122735190 @default.
• W1963539488 hasConcept C127716648 @default.
• W1963539488 hasConcept C143065580 @default.
• W1963539488 hasConcept C153911025 @default.
• W1963539488 hasConcept C2777267824 @default.
• W1963539488 hasConcept C3020804800 @default.
• W1963539488 hasConcept C30481170 @default.
• W1963539488 hasConcept C36823959 @default.
• W1963539488 hasConcept C501734568 @default.
• W1963539488 hasConcept C54355233 @default.
• W1963539488 hasConcept C69991583 @default.
• W1963539488 hasConcept C84597430 @default.
• W1963539488 hasConcept C86803240 @default.
• W1963539488 hasConceptScore W1963539488C104317684 @default.
• W1963539488 hasConceptScore W1963539488C122735190 @default.
• W1963539488 hasConceptScore W1963539488C127716648 @default.
• W1963539488 hasConceptScore W1963539488C143065580 @default.
• W1963539488 hasConceptScore W1963539488C153911025 @default.
• W1963539488 hasConceptScore W1963539488C2777267824 @default.
• W1963539488 hasConceptScore W1963539488C3020804800 @default.
• W1963539488 hasConceptScore W1963539488C30481170 @default.
• W1963539488 hasConceptScore W1963539488C36823959 @default.
• W1963539488 hasConceptScore W1963539488C501734568 @default.
• W1963539488 hasConceptScore W1963539488C54355233 @default.
• W1963539488 hasConceptScore W1963539488C69991583 @default.
• W1963539488 hasConceptScore W1963539488C84597430 @default.
• W1963539488 hasConceptScore W1963539488C86803240 @default.
• W1963539488 hasIssue "1" @default.
• W1963539488 hasLocation W19635394881 @default.
• W1963539488 hasLocation W19635394882 @default.
• W1963539488 hasOpenAccess W1963539488 @default.
• W1963539488 hasPrimaryLocation W19635394881 @default.
• W1963539488 hasRelatedWork W2004776908 @default.
• W1963539488 hasRelatedWork W2027181866 @default.
• W1963539488 hasRelatedWork W2090859105 @default.
• W1963539488 hasRelatedWork W2123733913 @default.
• W1963539488 hasRelatedWork W2133652235 @default.
• W1963539488 hasRelatedWork W2155523121 @default.
• W1963539488 hasRelatedWork W2954044368 @default.
• W1963539488 hasRelatedWork W4233018895 @default.
• W1963539488 hasRelatedWork W1592611938 @default.
• W1963539488 hasRelatedWork W2090551145 @default.
• W1963539488 hasVolume "67" @default.

• next