| http://purl.uniprot.org/citations/18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18586677 | http://www.w3.org/2000/01/rdf-schema#comment | "The majority of mutations that cause isolated growth hormone deficiency type II are the result of aberrant splicing of transcripts encoding human growth hormone. Such mutations increase skipping of exon 3 and encode a 17.5-kDa protein that acts as a dominant negative to block secretion of full-length protein produced from unaffected alleles. Previously, we identified a splicing regulatory element in exon 3 (exonic splicing enhancer 2 (ESE2)), but we had not determined the molecular mechanism by which this element prevents exon skipping. Here, we show that two members of the serine/arginine-rich (SR) protein superfamily (ASF/SF2 and SC35) act antagonistically to regulate exon 3 splicing. ASF/SF2 activates exon 3 inclusion, but SC35, acting through a region just downstream of ESE2, can block such activation. These findings explain the disease-causing mechanism of a patient mutation in ESE2 that creates a functional SC35-binding site that then acts synergistically with the downstream SC35 site to produce pathological levels of exon 3 skipping. Although the precedent for SR proteins acting as repressors is established, this is the first example of a patient mutation that creates a site through which an SR protein represses splicing."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m710175200"xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/author | "Peng R."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/author | "Crawford J.B."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/author | "Phillips J.A."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/author | "Patton J.G."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/author | "Solis A.S."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/name | "J Biol Chem"xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/pages | "23619-23626"xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/title | "Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically."xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://purl.uniprot.org/core/volume | "283"xsd:string |
| http://purl.uniprot.org/citations/18586677 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18586677 |
| http://purl.uniprot.org/citations/18586677 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18586677 |
| http://purl.uniprot.org/uniprot/#_Q07955-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_A8K1L8-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_A0A2I7N9Y9-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_A0A2I7N9Z4-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_B3KUF7-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_B3KUY1-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_B3KVY2-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
| http://purl.uniprot.org/uniprot/#_B3KX15-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |
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| http://purl.uniprot.org/uniprot/#_J3QQV5-mappedCitation-18586677 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18586677 |