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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: carmel l. 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.
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: carmel l. 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
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. Jaron R, et al. Among authors: carmel l. Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2. Clin Genet. 2016. PMID: 26925547
The function of introns.
Chorev M, Carmel L. Chorev M, et al. Among authors: carmel l. Front Genet. 2012 Apr 13;3:55. doi: 10.3389/fgene.2012.00055. eCollection 2012. Front Genet. 2012. PMID: 22518112 Free PMC article.
Harnessing epigenetics to study human evolution.
Mathov Y, Batyrev D, Meshorer E, Carmel L. Mathov Y, et al. Among authors: carmel l. Curr Opin Genet Dev. 2020 Jun;62:23-29. doi: 10.1016/j.gde.2020.05.023. Epub 2020 Jun 20. Curr Opin Genet Dev. 2020. PMID: 32574964 Review.
The Genomic History of the Bronze Age Southern Levant.
Agranat-Tamir L, Waldman S, Martin MAS, Gokhman D, Mishol N, Eshel T, Cheronet O, Rohland N, Mallick S, Adamski N, Lawson AM, Mah M, Michel M, Oppenheimer J, Stewardson K, Candilio F, Keating D, Gamarra B, Tzur S, Novak M, Kalisher R, Bechar S, Eshed V, Kennett DJ, Faerman M, Yahalom-Mack N, Monge JM, Govrin Y, Erel Y, Yakir B, Pinhasi R, Carmi S, Finkelstein I, Carmel L, Reich D. Agranat-Tamir L, et al. Among authors: carmel l. Cell. 2020 May 28;181(5):1146-1157.e11. doi: 10.1016/j.cell.2020.04.024. Cell. 2020. PMID: 32470400 Free PMC article.
65 results