Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Gernot H. G. Sinnecker"'
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:3245-3250
Molecular causes of phenotypic diversity in androgen insensitivity syndrome, occurring even in the same family, have rarely been identified. We report on a family with four affected individuals, three brothers (B1–3) and their uncle, displaying str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7d3522c24da16e97d82b481fe2272e
https://doi.org/10.1210/jcem.85.9.6812
https://doi.org/10.1210/jcem.85.9.6812
Autor:
Thorsten Horter, Paul-Martin Holterhus, Wolfgang Schulze, Klaus Kruse, Monika Bals-Pratsch, Britta Kremke, Olaf Hiort, Gernot H. G. Sinnecker
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 85:2810-2815
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=doi_________::ee31996e477b3c5ce690c8dbc4ec98ed
https://doi.org/10.1210/jcem.85.8.6713
https://doi.org/10.1210/jcem.85.8.6713
Autor:
Klaus Kruse, H.-M. Raabe, Holger Notbohm, J.-H. Höpner, Gernot H. G. Sinnecker, Peter K. Müller
Publikováno v:
Diabetologia. 41:1073-1079
Glycation of basement membrane collagen IV has been implicated as a major pathogenetic process leading to diabetic microvascular complications. To evaluate the relevance of carbohydrate-induced modifications on collagen IV in diabetic nephropathy, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b11e108f5ee25b29b71eab049651dbd2
https://doi.org/10.1007/s001250051032
https://doi.org/10.1007/s001250051032
Publikováno v:
The Journal of Pediatrics. 132:939-943
Objective: The objective of this study was to assess somatic and inherited androgen receptor gene mutations in families with only one affected individual. Methods: Molecular genetic analysis of the androgen receptor gene in DNA derived from blood leu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93455a652cdf1c72234782add0162565
https://doi.org/10.1016/s0022-3476(98)70387-7
https://doi.org/10.1016/s0022-3476(98)70387-7
Autor:
Klaus Kruse, Hennie T. Brüggenwirth, Gernot H. G. Sinnecker, Paul-Martin Holterhus, Albert O. Brinkmann, Annette Kleinkauf-Houcken, Olaf Hiort
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 82:3584-3589
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=doi_________::0fa30b66a3f318986f6c5ba84fd0fd4d
https://doi.org/10.1210/jcem.82.11.4375
https://doi.org/10.1210/jcem.82.11.4375
Autor:
P. S. Adams, Klaus Kruse, R. S. Guenette, Martin Tenniswood, J Lakins, Esther M. Nitsche, Gernot H. G. Sinnecker, Amy Moquin
Publikováno v:
American Journal of Medical Genetics. 63:231-238
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=doi_________::ef5087bb02dbb932baaa7576073b76bf
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<231::aid-ajmg40>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<231::aid-ajmg40>3.0.co
Publikováno v:
American Journal of Medical Genetics. 63:218-222
Androgen insensitivity syndromes (AIS) are due to end-organ resistance to androgenic steroids in males leading to defective virilization of the external genitalia. The phenotype encompasses a wide array of genital ambiguity and may range from complet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7594845d0560b5af5eaff2cc09f4772d
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<218::aid-ajmg38>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<218::aid-ajmg38>3.0.co
Autor:
H. Hauss, Dirk Schnabel, Leif Dibbelt, Klaus Kruse, Norbert Albers, M. Holder, Olaf Hiort, W. Hoepffner, Gernot H. G. Sinnecker, H. G. Dörr, U. Heinrich, M. Hemminghaus
Publikováno v:
American Journal of Medical Genetics. 63:223-230
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=doi_________::bb4d8830b94e4d3270643b62a9b1e238
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co
Autor:
Eberhard Schwinger, George T. Klauber, David W. Yandell, Olaf Hiort, Hubert J. Wolfe, Lutz Keim, Mare Cendron, Gernot H. G. Sinnecker
Publikováno v:
European Journal of Pediatrics. 153:317-321
Development of male external genitalia is dependent on androgens, and karyotypic males lacking appropriate levels of androgens or functionally normal receptors may show abnormal virilization. Mutations in the androgen receptor gene cause abnormal rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b2b982271cea72d089bf8ffc27fe98
https://doi.org/10.1007/bf01956409
https://doi.org/10.1007/bf01956409
Publikováno v:
Human Molecular Genetics. 3:1163-1166
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=doi_________::f7862b8dca793fe25097c2cc587e45e2
https://doi.org/10.1093/hmg/3.7.1163
https://doi.org/10.1093/hmg/3.7.1163