| http://purl.uniprot.org/citations/10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10517636 | http://www.w3.org/2000/01/rdf-schema#comment | "The heterozygous chromosome deletion within the band 22q11 (del22q11) is an important cause of congenital cardiovascular defects. It is the genetic basis of DiGeorge syndrome and causes the most common deletion syndrome in humans. Because the deleted region is largely conserved in the mouse, we were able to engineer a chromosome deletion (Df1) spanning a segment of the murine region homologous to the human deleted region. Here we describe heterozygously deleted (Df1/+) mice with cardiovascular abnormalities of the same type as those associated with del22q11; we have traced the embryological origin of these abnormalities to defective development of the fourth pharyngeal arch arteries. Genetic complementation of the deletion using a chromosome duplicated for the Df1 DNA segment corrects the heart defects, indicating that they are caused by reduced dosage of genes located within Df1. The Df1/+ mouse model reveals the pathogenic basis of the most clinically severe aspect of DiGeorge syndrome and uncovers a new mechanism leading to aortic arch abnormalities. These mutants represent a mouse model of a human deletion syndrome generated by chromosome engineering."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.org/dc/terms/identifier | "doi:10.1038/43900"xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Bradley A."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Baldini A."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Carattini-Rivera S."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Botta A."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Lindsay E.A."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Jurecic V."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Cheah Y.C."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/author | "Rosenblatt H.M."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/name | "Nature"xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/pages | "379-383"xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/title | "Congenital heart disease in mice deficient for the DiGeorge syndrome region."xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://purl.uniprot.org/core/volume | "401"xsd:string |
| http://purl.uniprot.org/citations/10517636 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10517636 |
| http://purl.uniprot.org/citations/10517636 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10517636 |
| http://purl.uniprot.org/uniprot/#_E9Q0Y6-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_E9Q646-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_P70362-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_E9Q475-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_F6SYJ2-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_O70279-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |
| http://purl.uniprot.org/uniprot/#_Q3UQ85-mappedCitation-10517636 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10517636 |