| http://purl.uniprot.org/citations/10602386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10602386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10602386 | http://www.w3.org/2000/01/rdf-schema#comment | "21-Hydroxylase deficiency, a potentially fatal disease due to deletions or mutations of the cytochrome P450 21-hydroxylase gene (CYP21), causes congenital adrenal hyperplasia (CAH) with low or absent glucocorticoid and mineralocorticoid production. The feasibility of gene therapy for CAH was studied using 21OH-deficient mice (21OH-) and a replication-deficient adenovirus containing the genomic sequence of human CYP21 (hAdCYP21). Intra-adrenal injection of hAdCYP21 in 21OH-mice induced hCYP21 mRNA with the highest expression from 2 to 7 days before a gradual decline. 21OH activity measured in adrenal tissue increased from undetectable to levels found in wild-type mice 2 to 7 days after AdhCYP21 injection. Adrenal morphology of 21OH-mice showed lack of zonation, and hypertrophy and hyperplasia of adrenocortical mitochondria with few tubulovesicular christae. These morphological abnormalities were markedly improved 7 days after hAdCYP21 gene therapy. Plasma corticosterone increased from undetectable levels to values similar in wild-type mice by 7 and 14 days, declining over the next 40 days. This is the first demonstration that a single intra-adrenal injection of an adenoviral vector encoding CYP21 can compensate for the biochemical, endocrine and histological alterations in 21OH-deficient mice, and shows that gene therapy could be a feasible option for treatment of CAH."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.gt.3301018"xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.gt.3301018"xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Okada T."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Okada T."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Tajima T."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Tajima T."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Ma X.M."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Ma X.M."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Bornstein S."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Bornstein S."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Aguilera G."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Aguilera G."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Ramsey W."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/author | "Ramsey W."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/name | "Gene Ther."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/name | "Gene Ther."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/pages | "1898-1903"xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/pages | "1898-1903"xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/title | "Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice."xsd:string |
| http://purl.uniprot.org/citations/10602386 | http://purl.uniprot.org/core/title | "Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice."xsd:string |