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SLC26A1 is a major determinant of sulfate homeostasis in humans.
Pfau A, López-Cayuqueo KI, Scherer N, Wuttke M, Wernstedt A, González Fassrainer D, Smith DE, van de Kamp JM, Ziegeler K, Eckardt KU, Luft FC, Aronson PS, Köttgen A, Jentsch TJ, Knauf F. Pfau A, et al. Among authors: gonzalez fassrainer d. J Clin Invest. 2023 Feb 1;133(3):e161849. doi: 10.1172/JCI161849. J Clin Invest. 2023. PMID: 36719378 Free PMC article.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: gonzalez fassrainer d. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
TSPY expression is variably altered in transgenic mice with testicular feminization.
Schubert S, Kamino K, Böhm D, Adham I, Engel W, von Wasielewski R, Moharregh-Khiabani D, Mauceri G, Vaske B, Meinhardt A, Schöner A, Gonzalez-Fassrainer D, Schmidtke J. Schubert S, et al. Among authors: gonzalez fassrainer d. Biol Reprod. 2008 Jul;79(1):125-33. doi: 10.1095/biolreprod.107.067025. Epub 2008 Apr 9. Biol Reprod. 2008. PMID: 18401008