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Nucleoporin107 mediates female sexual differentiation via Dsx.
Shore T, Levi T, Kalifa R, Dreifuss A, Rekler D, Weinberg-Shukron A, Nevo Y, Bialistoky T, Moyal V, Gold MY, Leebhoff S, Zangen D, Deshpande G, Gerlitz O. Shore T, et al. Among authors: weinberg shukron a. Elife. 2022 Mar 21;11:e72632. doi: 10.7554/eLife.72632. Elife. 2022. PMID: 35311642 Free PMC article.
Essential Role of BRCA2 in Ovarian Development and Function.
Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D. Weinberg-Shukron A, et al. N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024. N Engl J Med. 2018. PMID: 30207912 Free PMC article.
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D. Weinberg-Shukron A, et al. J Clin Invest. 2015 Nov 2;125(11):4295-304. doi: 10.1172/JCI83553. Epub 2015 Oct 20. J Clin Invest. 2015. PMID: 26485283 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. 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
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.
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, Zlotogorski A, Berkun Y, Press JJ, Mukamel M, Voth I, Hashkes PJ, Harel L, Hoffer V, Ling E, Yalcinkaya F, Kasapcopur O, Lee MK, Klevit RE, Renbaum P, Weinberg-Shukron A, Sener EF, Schormair B, Zeligson S, Marek-Yagel D, Strom TM, Shohat M, Singer A, Rubinow A, Pras E, Winkelmann J, Tekin M, Anikster Y, King MC, Levy-Lahad E. Navon Elkan P, et al. N Engl J Med. 2014 Mar 6;370(10):921-31. doi: 10.1056/NEJMoa1307362. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552285 Free article.
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