Zobrazeno 1 - 6
of 6
pro vyhledávání: '"G H, Sinnecker"'
Autor:
O, Hiort, P M, Holterhus, T, Horter, W, Schulze, B, Kremke, M, Bals-Pratsch, G H, Sinnecker, K, Kruse
Publikováno v:
The Journal of clinical endocrinology and metabolism. 85(8)
Abnormal human spermatogenesis is caused by a variety of genetic and acquired conditions. Because spermatogenesis is dependent on androgens, some males may have a minimal form of androgen insensitivity that does not inhibit virilization but impairs f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::00464738e21d9b184ffcd1bb67ddd838
https://pubmed.ncbi.nlm.nih.gov/10946887
https://pubmed.ncbi.nlm.nih.gov/10946887
Autor:
P M, Holterhus, H T, Brüggenwirth, O, Hiort, A, Kleinkauf-Houcken, K, Kruse, G H, Sinnecker, A O, Brinkmann
Publikováno v:
The Journal of clinical endocrinology and metabolism. 82(11)
Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. We, however, identified an adult patient with a 46,XY karyotype carrying a premature stop codon in exon 1 of the AR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e07c1fec03292a18d1839f3d131ea98c
https://pubmed.ncbi.nlm.nih.gov/9360511
https://pubmed.ncbi.nlm.nih.gov/9360511
Publikováno v:
European journal of pediatrics. 156(1)
In the genetic male, mutations of the androgen receptor (AR) gene cause phenotypes ranging from female to subfertile male. Binding assays on genital skin fibroblasts and DNA analysis alone provide incomplete information about receptor function. We us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9722cfbff1ea43a1faea568a09f53285
https://pubmed.ncbi.nlm.nih.gov/9007482
https://pubmed.ncbi.nlm.nih.gov/9007482
Autor:
E M, Nitsche, A, Moquin, P S, Adams, R S, Guenette, J N, Lakins, G H, Sinnecker, K, Kruse, M P, Tenniswood
Publikováno v:
American journal of medical genetics. 63(1)
Male sexual differentiation is a process that involves androgen action via the androgen receptor. Defects in the androgen receptor, many resulting from point mutations in the androgen receptor gene, lead to varying degrees of impaired masculinization
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc46d784e8c0d86e25b86c24d248e3bb
https://pubmed.ncbi.nlm.nih.gov/8723115
https://pubmed.ncbi.nlm.nih.gov/8723115
Autor:
G H, Sinnecker, O, Hiort, L, Dibbelt, N, Albers, H G, Dörr, H, Hauss, U, Heinrich, M, Hemminghaus, W, Hoepffner, M, Holder, D, Schnabel, K, Kruse
Publikováno v:
American journal of medical genetics. 63(1)
Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5 alpha-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::90c6d440299d6df378cf144865f28490
https://pubmed.ncbi.nlm.nih.gov/8723114
https://pubmed.ncbi.nlm.nih.gov/8723114
Publikováno v:
Verhandlungen der Deutschen Gesellschaft fur Pathologie. 78
Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ff1d89e5550ac013d24b18b2c16ee621
https://pubmed.ncbi.nlm.nih.gov/7533986
https://pubmed.ncbi.nlm.nih.gov/7533986