Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).

doi:10.1210/jc.2018-00052

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Article

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).

The Journal of clinical endocrinology and metabolism - 1 Dec 2018

Hornig Nadine C, Rodens Pascal, Dörr Helmuth, Hubner Nina C, Kulle Alexandra E, Schweikert Hans-Udo, Welzel Maik, Bens Susanne, Hiort Olaf, Werner Ralf, Gonzalves Susanne, Eckstein Anne Katrin, Cools Martine, Verrijn-Stuart Annemarie, Stunnenberg Hendrik G, Siebert Reiner, Ammerpohl Ole, Holterhus Paul-Martin

Abstract excerpt

Context: Inactivating mutations within the AR gene are present in only ~40% of individuals with clinically and hormonally diagnosed androgen insensitivity syndrome (AIS). Previous studies revealed the existence of an AR gene mutation-negative group of patients with AIS who have compromised androgen receptor (AR) function (AIS type II). Objective: To investigate whether AIS type II can be due to epigenetic...

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PMID: 30124873
DOI: 10.1210/jc.2018-00052

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