caa a22 4500 378861980 CHVBK 20180305123349.0 cr unu---uuuuu 161128e20030101xx s 000 0 eng 10.1351/pac200375111785 doi (NATIONALLICENCE)gruyter-10.1351/pac200375111785 Human disorders caused by nuclear receptor gene mutations [Elektronische Daten] [J. C. Achermann, J. L. Jameson] The identification of naturally occurring nuclear receptor mutations highlights the critical role that many of these transcription factors play in human endocrine development and function. Inactivating mutations in the ligand-dependent nuclear receptors (TRβ, VDR, ERα, GR, MR, AR) are well characterized in patients with conditions such as androgen insensitivity syndrome (AIS) and vitamin D resistance. On the other hand, mutations in TRβ act in a dominant negative manner to cause hormone resistance. Inactivating mutations in orphan nuclear receptors have also been identified (PPARγ2, HNF4α, PNR, NURR1, SF1, DAX1, SHP) and reveal important developmental and metabolic functions for this group of receptors with previously elusive physiologic roles. In addition to loss of function mutations, receptor activation can result from mutations that confer constitutive activity or altered ligand responsiveness to the receptor (MR, AR), or from genetic duplication (DAX1) or the expression of fusion proteins (RARA, PPARγ1). Together, these naturally occurring mutations provide fascinating insight into key structural and functional receptor domains to reveal the diverse role nuclear receptors play in human biology. © 2013 Walter de Gruyter GmbH, Berlin/Boston Achermann J. C. Centre for Human Growth and Maturation,I nstitute of Child Health and Department of Medicine, University College London, London, UK aut Jameson J. L. Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, IL 60611, USA aut Pure and Applied Chemistry De Gruyter 75/11-12(2003-01-01), 1785-1796 0033-4545 75:11-12<1785 2003 75 pac https://doi.org/10.1351/pac200375111785 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1351/pac200375111785 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Achermann J. C. Centre for Human Growth and Maturation,I nstitute of Child Health and Department of Medicine, University College London, London, UK aut NATIONALLICENCE 700 1- Jameson J. L. Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, IL 60611, USA aut NATIONALLICENCE 773 0- Pure and Applied Chemistry De Gruyter 75/11-12(2003-01-01), 1785-1796 0033-4545 75:11-12<1785 2003 75 pac CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter