WFRF:(Nikoshkov A)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02521naa a2200349 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:1936104 | |
| 003 | SwePub | |
| 008 | 240701s2000 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19361042 URI |
| 024 | 7 | a https://doi.org/10.1159/0000235192 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Giwercman, YL4 aut |
| 245 | 1 0 | a Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor |
| 264 | c 2000-09-08 | |
| 264 | 1 | b S. Karger AG,c 2000 |
| 520 | a The androgen insensitivity syndrome is a disorder caused by deficient function of the androgen receptor, characterized by varying degrees of undermasculinization in karyotypic males. We have identified four mutations in the androgen receptor gene, in the region encoding the DNA-binding domain of the protein. Two mutations, R607X and R615G, were found in patients with complete insensitivity to androgens, whereas the other two, S578T and A596T, were found in patients with partial insensitivity. The functional consequences of the three missense mutations were assayed in vitro after transient expression of the receptors in COS cells. All mutants showed normal androgen binding but abnormal abilities to stimulate transcription of an androgen-responsive reporter gene. R615G abolished transactivation whereas S578T and A596T were partially malfunctional. The function of A596T, but not of S578T, was normalized at high androgen concentrations in vitro, reflecting the in vivo situation. Thus, patients with specific mutations in the DNA-binding domain of the androgen receptor may benefit from androgen treatment. | |
| 700 | 1 | a Nikoshkov, Au Karolinska Institutet4 aut |
| 700 | 1 | a Lindsten, Ku Karolinska Institutet4 aut |
| 700 | 1 | a Bystrom, Bu Karolinska Institutet4 aut |
| 700 | 1 | a Pousette, A4 aut |
| 700 | 1 | a Knudtzon, J4 aut |
| 700 | 1 | a Alm, J4 aut |
| 700 | 1 | a Wedell, Au Karolinska Institutet4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Hormone researchd : S. Karger AGg 53:2, s. 83-88q 53:2<83-88x 0301-0163 |
| 773 | 0 | t Hormone Research in Paediatricsd : S. Karger AGg 53:2, s. 83-88q 53:2<83-88x 1663-2818x 1663-2826 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1936104 |
| 856 | 4 8 | u https://doi.org/10.1159/000023519 |
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- Giwercman, YL
- Nikoshkov, A
- Lindsten, K
- Bystrom, B
- Pousette, A
- Knudtzon, J
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- Alm, J
- Wedell, A
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