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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Among authors: ambrugger p. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542
Molecular pathogenesis of neonatal hypothyroidism.
Krude H, Biebermann H, Schnabel D, Ambrugger P, Grüters A. Krude H, et al. Among authors: ambrugger p. Horm Res. 2000;53 Suppl 1:12-8. doi: 10.1159/000053199. Horm Res. 2000. PMID: 10895037 Review.
The ultraviolet filter benzophenone 2 interferes with the thyroid hormone axis in rats and is a potent in vitro inhibitor of human recombinant thyroid peroxidase.
Schmutzler C, Bacinski A, Gotthardt I, Huhne K, Ambrugger P, Klammer H, Schlecht C, Hoang-Vu C, Grüters A, Wuttke W, Jarry H, Köhrle J. Schmutzler C, et al. Among authors: ambrugger p. Endocrinology. 2007 Jun;148(6):2835-44. doi: 10.1210/en.2006-1280. Epub 2007 Mar 22. Endocrinology. 2007. PMID: 17379648
Endocrine active compounds affect thyrotropin and thyroid hormone levels in serum as well as endpoints of thyroid hormone action in liver, heart and kidney.
Schmutzler C, Hamann I, Hofmann PJ, Kovacs G, Stemmler L, Mentrup B, Schomburg L, Ambrugger P, Grüters A, Seidlova-Wuttke D, Jarry H, Wuttke W, Köhrle J. Schmutzler C, et al. Among authors: ambrugger p. Toxicology. 2004 Dec 1;205(1-2):95-102. doi: 10.1016/j.tox.2004.06.041. Toxicology. 2004. PMID: 15458794
Endocrine disruptors and the thyroid gland--a combined in vitro and in vivo analysis of potential new biomarkers.
Schmutzler C, Gotthardt I, Hofmann PJ, Radovic B, Kovacs G, Stemmler L, Nobis I, Bacinski A, Mentrup B, Ambrugger P, Grüters A, Malendowicz LK, Christoffel J, Jarry H, Seidlovà-Wuttke D, Wuttke W, Köhrle J. Schmutzler C, et al. Among authors: ambrugger p. Environ Health Perspect. 2007 Dec;115 Suppl 1(Suppl 1):77-83. doi: 10.1289/ehp.9369. Environ Health Perspect. 2007. PMID: 18174954 Free PMC article.
MC4R oligomerizes independently of extracellular cysteine residues.
Elsner A, Tarnow P, Schaefer M, Ambrugger P, Krude H, Grüters A, Biebermann H. Elsner A, et al. Among authors: ambrugger p. Peptides. 2006 Feb;27(2):372-9. doi: 10.1016/j.peptides.2005.02.027. Epub 2005 Nov 9. Peptides. 2006. PMID: 16289450