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The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.
Fuchs H, Sabrautzki S, Przemeck GK, Leuchtenberger S, Lorenz-Depiereux B, Becker L, Rathkolb B, Horsch M, Garrett L, Östereicher MA, Hans W, Abe K, Sagawa N, Rozman J, Vargas-Panesso IL, Sandholzer M, Lisse TS, Adler T, Aguilar-Pimentel JA, Calzada-Wack J, Ehrhard N, Elvert R, Gau C, Hölter SM, Micklich K, Moreth K, Prehn C, Puk O, Racz I, Stoeger C, Vernaleken A, Michel D, Diener S, Wieland T, Adamski J, Bekeredjian R, Busch DH, Favor J, Graw J, Klingenspor M, Lengger C, Maier H, Neff F, Ollert M, Stoeger T, Yildirim AÖ, Strom TM, Zimmer A, Wolf E, Wurst W, Klopstock T, Beckers J, Gailus-Durner V, Hrabé de Angelis M. Fuchs H, et al. Among authors: diener s. G3 (Bethesda). 2016 Dec 7;6(12):4035-4046. doi: 10.1534/g3.116.033670. G3 (Bethesda). 2016. PMID: 27815347 Free PMC article.
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
Diener S, Bayer S, Sabrautzki S, Wieland T, Mentrup B, Przemeck GK, Rathkolb B, Graf E, Hans W, Fuchs H, Horsch M, Schwarzmayr T, Wolf E, Klopocki E, Jakob F, Strom TM, Hrabě de Angelis M, Lorenz-Depiereux B. Diener S, et al. Mamm Genome. 2016 Apr;27(3-4):111-21. doi: 10.1007/s00335-016-9619-x. Epub 2016 Jan 23. Mamm Genome. 2016. PMID: 26803617
An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.
Sabrautzki S, Janas E, Lorenz-Depiereux B, Calzada-Wack J, Aguilar-Pimentel JA, Rathkolb B, Adler T, Cohrs C, Hans W, Diener S, Fuchs H, Gailus-Durner V, Busch DH, Höfler H, Ollert M, Strom TM, Wolf E, Neff F, Hrabě de Angelis M. Sabrautzki S, et al. Among authors: diener s. Am J Pathol. 2013 Aug;183(2):352-68. doi: 10.1016/j.ajpath.2013.04.027. Epub 2013 Jun 19. Am J Pathol. 2013. PMID: 23791841 Free article.
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Beuschlein F, et al. Among authors: diener s. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. Nat Genet. 2013. PMID: 23416519
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas.
Lichtenauer UD, Di Dalmazi G, Slater EP, Wieland T, Kuebart A, Schmittfull A, Schwarzmayr T, Diener S, Wiese D, Thasler WE, Reincke M, Meitinger T, Schott M, Fassnacht M, Bartsch DK, Strom TM, Beuschlein F. Lichtenauer UD, et al. Among authors: diener s. J Clin Endocrinol Metab. 2015 May;100(5):E776-82. doi: 10.1210/jc.2015-1100. Epub 2015 Mar 12. J Clin Endocrinol Metab. 2015. PMID: 25763608
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: diener s. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
58 results