| http://purl.uniprot.org/citations/19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19383940 | http://www.w3.org/2000/01/rdf-schema#comment | "Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. Fgfrl1 null mutants also display a transient foetal anaemia and a fully penetrant diaphragm defect, causing prenatal and perinatal lethality. Together, these data support a wider role for Fgfrl1 in development, implicate FGFRL1 insufficiency in WHS, and provide a novel animal model to dissect the complex aetiology of this human disease."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.org/dc/terms/identifier | "doi:10.1242/dmm.002287"xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Kratsios P."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Bilbao-Cortes D."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Rosenthal N."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Catela C."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Slonimsky E."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/author | "Te Welscher P."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/name | "Dis Model Mech"xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/pages | "283-294"xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/title | "Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice."xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://purl.uniprot.org/core/volume | "2"xsd:string |
| http://purl.uniprot.org/citations/19383940 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19383940 |
| http://purl.uniprot.org/citations/19383940 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19383940 |
| http://purl.uniprot.org/uniprot/Q91V87#attribution-9EF359E4C520C55BCC1476C165B03ACD | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JDM8-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_D3Z7U5-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YTQ5-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YU04-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YU20-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUB8-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUM7-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |
| http://purl.uniprot.org/uniprot/#_A0A0J9YUX1-mappedCitation-19383940 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19383940 |