RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21576457http://www.w3.org/2000/01/rdf-schema#comment"Neuronal populations display conspicuous variability in their size among individuals, but the genetic sources of this variation are largely undefined. We demonstrate a large and highly heritable variation in neuron number within the mouse retina, affecting a critical population of interneurons, the horizontal cells. Variation in the size of this population maps to the distal end of chromosome (Chr) 13, a region homologous to human Chr 5q11.1-11.2. This region contains two genes known to modulate retinal cell number. Using conditional knock-out mice, we demonstrate that one of these genes, the LIM homeodomain gene Islet-1 (Isl1), plays a role in regulating horizontal cell number. Genetic differences in Isl1 expression are high during the period of horizontal cell production, and cis-regulation of Isl1 expression within the retina is demonstrated directly. We identify a single nucleotide polymorphism in the 5' UTR of Isl1 that creates an E-box sequence as a candidate causal variant contributing to this variation in horizontal cell number."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.org/dc/terms/identifier"doi:10.1073/pnas.1103253108"xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Gan L."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Williams R.W."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Ding Q."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Reese B.E."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Ciobanu D.C."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Whitney I.E."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Elshatory Y."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Raven M.A."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/author"Poche R.A."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/name"Proc Natl Acad Sci U S A"xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/pages"9697-9702"xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/title"Genetic modulation of horizontal cell number in the mouse retina."xsd:string
http://purl.uniprot.org/citations/21576457http://purl.uniprot.org/core/volume"108"xsd:string
http://purl.uniprot.org/citations/21576457http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21576457
http://purl.uniprot.org/citations/21576457http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/21576457
http://purl.uniprot.org/uniprot/#_A0A286YDK1-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457
http://purl.uniprot.org/uniprot/#_P61372-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457
http://purl.uniprot.org/uniprot/#_A2RSV5-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457
http://purl.uniprot.org/uniprot/#_B2ZUN4-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457
http://purl.uniprot.org/uniprot/#_Q8BNY0-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457
http://purl.uniprot.org/uniprot/#_Q8BTH7-mappedCitation-21576457http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21576457