| http://purl.uniprot.org/citations/18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18091349 | http://www.w3.org/2000/01/rdf-schema#comment | "The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IkappaB kinase associated protein gene (IKBKAP) mRNA and ELP1. ELP1 is a subunit of Elongator, formerly called the IkappaB kinase associated protein (IKAP) protein. We measured IKBKAP mRNA in peripheral blood leukocytes to determine whether FD subjects and carriers have characteristic levels. Estimated mean IKBKAP mRNA levels, measured by quantitative PCR and expressed as amount relative to the noncarrier average, were significantly different for the two groups when not adjusted for age and sex (p < 0.001): FD subjects 0.23, 95% confidence interval (CI) (0.19, 0.28); carriers 0.58, 95% CI (0.50, 0.68); or adjusted for age and sex (p < 0.001): FD subjects 0.21, 95% CI (0.16, 0.26); carriers 0.66, 95% CI (0.55, 0.79). Comparison of IKBKAP mRNA levels of the 22 FD subjects and their related carriers showed a strong correlation, providing evidence for genetic control of splicing efficiency. IKBKAP mRNA levels were not higher in those subjects using tocotrienols or epigallocatechin gallate. Levels of IKBKAP mRNA in peripheral blood leukocytes can be used to assess molecular response to therapies aimed at enhancing exon 20 inclusion and increasing cellular levels of ELP1/IKAP."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.org/dc/terms/identifier | "doi:10.1203/pdr.0b013e31815ef74b"xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Leyne M."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Mull J."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Slaugenhaupt S.A."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Axelrod F.B."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Goldberg J.D."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Berlin D."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Gold-von Simson G."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/author | "Rolnitzky L.M."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/name | "Pediatr Res"xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/pages | "186-190"xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/title | "IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia."xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://purl.uniprot.org/core/volume | "63"xsd:string |
| http://purl.uniprot.org/citations/18091349 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18091349 |
| http://purl.uniprot.org/citations/18091349 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18091349 |
| http://purl.uniprot.org/uniprot/#_A0A6Q8PGW3-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_B3KMT0-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_B3KNB2-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_B4E3I9-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_B3KVS1-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_B3KXE7-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |
| http://purl.uniprot.org/uniprot/#_F5H2T0-mappedCitation-18091349 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18091349 |