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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A. Eozenou C, et al. Among authors: totonchi m. Proc Natl Acad Sci U S A. 2020 Jun 16;117(24):13680-13688. doi: 10.1073/pnas.1921676117. Epub 2020 Jun 3. Proc Natl Acad Sci U S A. 2020. PMID: 32493750 Free PMC article.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease.
Curry JN, Saurette M, Askari M, Pei L, Filla MB, Beggs MR, Rowe PS, Fields T, Sommer AJ, Tanikawa C, Kamatani Y, Evan AP, Totonchi M, Alexander RT, Matsuda K, Yu AS. Curry JN, et al. Among authors: totonchi m. J Clin Invest. 2020 Apr 1;130(4):1948-1960. doi: 10.1172/JCI127750. J Clin Invest. 2020. PMID: 32149733 Free PMC article.
135 results