| http://purl.uniprot.org/citations/11502836 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11502836 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11502836 | http://www.w3.org/2000/01/rdf-schema#comment | "G to A transition at position 6664 of the GH-1 gene results in the substitution of Arg183 by His (R183H) in human GH protein and causes a new form of autosomal dominant isolated GH deficiency (type II). Although a weak GH release after standard pharmacological provocation tests is observed in these affected individuals, the dominant inheritance pattern is postulated to be caused by a blockade of the GH-regulated secretion in the somatotrophs. The aim of this study was to analyze the impact of this autosomal dominant mutation not only at a clinical, but also at a cellular, level. The results of the different stimulation tests showed first that the patient possesses a severely impaired, but releasable, GH store, and second that the GH secretion is blocked in a time-dependent and reversible way. To confirm these clinical data, cell culture studies were performed looking at the regulated secretory pathway of GH using AtT-20 cells. Importantly, we were able to show that when the R183H mutant GH was expressed in AtT-20 cells, secretagogue (forskolin) induced a normal R183H GH-regulated secretion, but in AtT-20 cells coexpressing both the R183H mutant GH and the normal GH, forskolin-induced GH secretion was markedly reduced. Together, the experiments seem to support the hypothesis that R183H mutant GH severely impaired the GH-regulated secretion and may, therefore, be the cause of this specific form of isolated GH deficiency type II."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem.86.8.7723"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem.86.8.7723"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Mullis P.E."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Mullis P.E."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Stocker P."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Stocker P."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Deladoey J."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/author | "Deladoey J."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/name | "J. Clin. Endocrinol. Metab."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/pages | "3941-3947"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/pages | "3941-3947"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/title | "Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/title | "Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion."xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/11502836 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11502836 |
| http://purl.uniprot.org/citations/11502836 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11502836 |
| http://purl.uniprot.org/citations/11502836 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11502836 |
| http://purl.uniprot.org/citations/11502836 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11502836 |