| http://purl.uniprot.org/citations/22294732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22294732 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22294732 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2011-09-378158"xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2011-09-378158"xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Klein C."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Klein C."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Schaffer A.A."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Schaffer A.A."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Engelhardt K.R."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Engelhardt K.R."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Grimbacher B."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Grimbacher B."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Pfeifer D."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Pfeifer D."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Schambach A."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Schambach A."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Rezaei N."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Rezaei N."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Kotlarz D."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Kotlarz D."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Appaswamy G."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Appaswamy G."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Diestelhorst J."xsd:string |
| http://purl.uniprot.org/citations/22294732 | http://purl.uniprot.org/core/author | "Diestelhorst J."xsd:string |