| http://purl.uniprot.org/citations/10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10720078 | http://www.w3.org/2000/01/rdf-schema#comment | "Height, which is partially determined by GH secretion, is genetically influenced. The purpose of this study was to identify polymorphisms in the GH-1 gene, which are associated with altered GH production. The subjects included prepubertal short children with GH insufficiency without gross pituitary abnormalities (n = 43), short children with normal GH secretion (n = 46), and normal adults (n = 294). A polymorphism in intron 4 (P-1, A or T at base 1663) was identified. Two additional polymorphic sites (P-2, T or G at base 218, and P-3, G or T at base 439) in the promoter region of the GH-1 gene were also identified and matched with the P-1 polymorphism (A or T, respectively) in more than 90% of the subjects. P-1, P-2, and P-3 were considered to be associated with GH production, and the results of P-2 are explained as a representative in this abstract. For example, the allele frequency of T at P-2 in prepubertal short children with GH insufficiency without gross pituitary abnormalities (58.1%) was significantly different from that in short children with normal GH secretion and normal adults (37.0% and 43.5%, respectively; P < 0.001). Furthermore, significant differences were observed in maximal GH peaks in provocative tests (11.1 vs. 18.2 ng/mL, P = 0.006), insulin-like growth factor I SD scores (SDS) (-2.4 vs. -0.8, P < 0.0001), and height (Ht) SDS (-3.7 vs. -3.0, P = 0/001) in children with the T/T or G/G genotypes at P-2, respectively. In the entire study group, significant differences in insulin-like growth factor SDS (T/T, -0.9; G/G, -0.2; P = 0.0009) and Ht SDS (T/T, -1.0; G/G, -0.4; P = 0.022) were observed between the T/T and G/G genotypes at P-2. These data indicate that GH secretion is partially determined by polymorphisms in the GH-1 gene, which explain some of the variations in GH secretion and Ht."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.org/dc/terms/identifier | "doi:10.1210/jcem.85.3.6468"xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Igarashi Y."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Hasegawa Y."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Kato S."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Hasegawa T."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Tanaka T."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Yamada M."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Nishi Y."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Fujii K."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Tachibana K."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/author | "Onigata K."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/name | "J Clin Endocrinol Metab"xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/pages | "1290-1295"xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/title | "Identification of novel human GH-1 gene polymorphisms that are associated with growth hormone secretion and height."xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://purl.uniprot.org/core/volume | "85"xsd:string |
| http://purl.uniprot.org/citations/10720078 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10720078 |
| http://purl.uniprot.org/citations/10720078 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10720078 |
| http://purl.uniprot.org/uniprot/#_B1A4G6-mappedCitation-10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10720078 |
| http://purl.uniprot.org/uniprot/#_B1A4G7-mappedCitation-10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10720078 |
| http://purl.uniprot.org/uniprot/#_B1A4G9-mappedCitation-10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10720078 |
| http://purl.uniprot.org/uniprot/#_B1A4H0-mappedCitation-10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10720078 |
| http://purl.uniprot.org/uniprot/#_P01241-mappedCitation-10720078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10720078 |