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XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E. Zangen D, et al. Among authors: abu libdeh a. Am J Hum Genet. 2011 Oct 7;89(4):572-9. doi: 10.1016/j.ajhg.2011.09.006. Epub 2011 Sep 29. Am J Hum Genet. 2011. PMID: 21963259 Free PMC article.
Testicular differentiation factor SF-1 is required for human spleen development.
Zangen D, Kaufman Y, Banne E, Weinberg-Shukron A, Abulibdeh A, Garfinkel BP, Dweik D, Kanaan M, Camats N, Flück C, Renbaum P, Levy-Lahad E. Zangen D, et al. J Clin Invest. 2014 May;124(5):2071-5. doi: 10.1172/JCI73186. Epub 2014 Apr 8. J Clin Invest. 2014. PMID: 24905461 Free PMC article.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. Among authors: abu libdeh a. J Med Genet. 2015 Sep;52(9):636-41. doi: 10.1136/jmedgenet-2015-103078. Epub 2015 Jun 12. J Med Genet. 2015. PMID: 26070314
GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves β-Cell Function in Type 2 Wolfram Syndrome.
Danielpur L, Sohn YS, Karmi O, Fogel C, Zinger A, Abu-Libdeh A, Israeli T, Riahi Y, Pappo O, Birk R, Zangen DH, Mittler R, Cabantchik ZI, Cerasi E, Nechushtai R, Leibowitz G. Danielpur L, et al. Among authors: abu libdeh a. J Clin Endocrinol Metab. 2016 Oct;101(10):3592-3599. doi: 10.1210/jc.2016-2240. Epub 2016 Jul 26. J Clin Endocrinol Metab. 2016. PMID: 27459537
42 results