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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN. Gotkine M, et al. Among authors: eiges r. Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4. Neurobiol Aging. 2021. PMID: 34272080
Genetic manipulation of human embryonic stem cells.
Epsztejn-Litman S, Eiges R. Epsztejn-Litman S, et al. Among authors: eiges r. Methods Mol Biol. 2010;584:387-411. doi: 10.1007/978-1-60761-369-5_21. Methods Mol Biol. 2010. PMID: 19907989
Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells.
Yanovsky-Dagan S, Avitzour M, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, Mitrani-Rosenbaum S, Levy-Lahad E, Birnbaum RY, Gepstein L, Epsztejn-Litman S, Eiges R. Yanovsky-Dagan S, et al. Among authors: eiges r. Stem Cell Reports. 2015 Aug 11;5(2):221-31. doi: 10.1016/j.stemcr.2015.06.003. Epub 2015 Jul 16. Stem Cell Reports. 2015. PMID: 26190529 Free PMC article.
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
Epsztejn-Litman S, Cohen-Hadad Y, Aharoni S, Altarescu G, Renbaum P, Levy-Lahad E, Schonberger O, Eldar-Geva T, Zeligson S, Eiges R. Epsztejn-Litman S, et al. Among authors: eiges r. PLoS One. 2015 Oct 16;10(10):e0138893. doi: 10.1371/journal.pone.0138893. eCollection 2015. PLoS One. 2015. PMID: 26473610 Free PMC article.
Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.
Cohen-Hadad Y, Altarescu G, Eldar-Geva T, Levi-Lahad E, Zhang M, Rogaeva E, Gotkine M, Bartok O, Ashwal-Fluss R, Kadener S, Epsztejn-Litman S, Eiges R. Cohen-Hadad Y, et al. Among authors: eiges r. Stem Cell Reports. 2016 Nov 8;7(5):927-940. doi: 10.1016/j.stemcr.2016.09.011. Epub 2016 Oct 20. Stem Cell Reports. 2016. PMID: 27773700 Free PMC article.
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male.
Eldar-Geva T, Gross-Tsur V, Hirsch HJ, Altarescu G, Segal R, Zeligson S, Golomb E, Epsztejn-Litman S, Eiges R. Eldar-Geva T, et al. Among authors: eiges r. Mol Genet Genomic Med. 2018 Sep;6(5):811-818. doi: 10.1002/mgg3.448. Epub 2018 Jul 12. Mol Genet Genomic Med. 2018. PMID: 30003711 Free PMC article.
34 results