| http://purl.uniprot.org/citations/1346613 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1346613 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1346613 | http://www.w3.org/2000/01/rdf-schema#comment | "Patients with leukocyte adhesion molecule (CD11/CD18, beta 2 integrins) deficiency have structural defects in the common beta subunit (CD18), which prevent heterodimer formation and normal cell surface expression of these receptors, leading to life-threatening bacterial infections. To elucidate the nature of these defects in a patient with partial (type II) deficiency, abnormal CD18 cDNA clones were isolated, using the polymerase chain reaction to amplify the patient's B cell-derived cDNAs. Sequence analysis revealed two mutant alleles. cDNA clones, representing a maternal allele, contained both a 12-base pair insertion resulting in an in-frame addition of four amino acids between P247 and E248 and a C1756----T nucleotide transition, resulting in an R586----W substitution in the normal CD18 protein. The inframe insertion arose by a single nucleotide C----A transversion in the 3' terminus of an intron, generating aberrant splice acceptor site. Other cDNA clones contained an A1052----G nucleotide transition not present in either parent which resulted in an N351----S substitution. To determine the functional importance of these changes, cDNA encoding a normal alpha chain (CD11b) was cotransfected into COS with CD18 cDNAs encoding for wild-type, maternal mutant allele, or CD18 containing N351----S substitution. Immunostaining of transfectants with anti-CD18 monoclonal antibodies revealed no cell surface expression of the maternal mutant CD18, and 22% surface expression of N351----S CD18. Both the insertion and the N351----S mutations occurred in a 250 amino acid extracellular region of CD18 that is highly conserved among beta integrins supporting a role for this region in heterodimer formation."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(19)50738-4"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0021-9258(19)50738-4"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Nelson C."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Nelson C."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Arnaout M.A."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Arnaout M.A."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Rabb H."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/author | "Rabb H."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/pages | "3351-3357"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/pages | "3351-3357"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/title | "Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/title | "Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins."xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/volume | "267"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://purl.uniprot.org/core/volume | "267"xsd:string |
| http://purl.uniprot.org/citations/1346613 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1346613 |
| http://purl.uniprot.org/citations/1346613 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1346613 |
| http://purl.uniprot.org/citations/1346613 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1346613 |
| http://purl.uniprot.org/citations/1346613 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/1346613 |