| http://purl.uniprot.org/citations/22560297 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22560297 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22560297 | http://www.w3.org/2000/01/rdf-schema#comment | "The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that Pbx1 deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic mesenchyme-specific Pbx1 inactivation exhibit hyposplenia. Moreover, the loss of Pbx causes downregulation of Nkx2-5 and derepression of p15Ink4b in spleen mesenchymal progenitors, perturbing the cell cycle. Removal of p15Ink4b in Pbx1 spleen-specific mutants partially rescues spleen growth. By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro. This study establishes that a Pbx/Nkx2-5/p15 regulatory module is essential for spleen development."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2012.02.009"xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.devcel.2012.02.009"xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Boisson B."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Boisson B."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Harvey R.P."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Harvey R.P."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Elliott D.A."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Elliott D.A."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Solloway M."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Solloway M."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Selleri L."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Selleri L."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Hidaka C."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Hidaka C."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Chang C.P."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Chang C.P."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Bolze A."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Bolze A."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Mahlaoui N."xsd:string |
| http://purl.uniprot.org/citations/22560297 | http://purl.uniprot.org/core/author | "Mahlaoui N."xsd:string |