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ey0020.4-7 | Novel Insights in Androgen Insensitivity Syndrome | ESPEYB20

4.7. Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

HL Marko , NC Hornig , RC Betz , PM Holterhus , J Altmuller , H Thiele , M Fabiano , HU Schweikert , D Braun , U Schweizer

Brief summary: This translational study highlights the importance of 2 novel endocytic receptors that are involved in cellular androgen uptake and in the pathogenesis of androgen insensitivity syndrome (AIS) type II.Steroids circulate in complex with plasma transfer proteins, and specific endocytic receptors can mediate cellular uptake of transfer protein/ligand complexes. Reduced intracellular hormone concentrations resulting from impaired hormone uptak...

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ey0016.6-2 | New Functions of (Old) Genes | ESPEYB16

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

NC Hornig , P Rodens , H Dorr , NC Hubner , AE Kulle , HU Schweikert , M Welzel , S Bens , O Hiort , R Werner , S Gonzalves , AK Eckstein , M Cools , A Verrijn-Stuart , HG Stunnenberg , R Siebert , O Ammerpohl , PM Holterhus

J Clin Endocrinol Metab. 2018 Dec 1;103(12):46174627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

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ESPE Yearbook of Paediatric Endocrinology

4.7. Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

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