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Page 1
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Kurolap A, et al. Among authors: ast g. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1. Am J Hum Genet. 2022. PMID: 35108495 Free PMC article.
Genetics of hearing loss in the Arab population of Northern Israel.
Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA. Danial-Farran N, et al. Among authors: ast g. Eur J Hum Genet. 2018 Dec;26(12):1840-1847. doi: 10.1038/s41431-018-0218-z. Epub 2018 Aug 23. Eur J Hum Genet. 2018. PMID: 30139988 Free PMC article.
Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode.
Elkoshi N, Parikh S, Malcov-Brog H, Parikh R, Manich P, Netti F, Maliah A, Elkoshi H, Haj M, Rippin I, Frand J, Perluk T, Haiat-Factor R, Golan T, Regev-Rudzki N, Kiper E, Brenner R, Gonen P, Dror I, Levi H, Hameiri O, Cohen-Gulkar M, Eldar-Finkelman H, Ast G, Nizri E, Ziv Y, Elkon R, Khaled M, Ebenstein Y, Shiloh Y, Levy C. Elkoshi N, et al. Among authors: ast g. J Invest Dermatol. 2023 Dec;143(12):2494-2506.e4. doi: 10.1016/j.jid.2023.03.1686. Epub 2023 May 25. J Invest Dermatol. 2023. PMID: 37236596 Free article.
Human histone H1 variants impact splicing outcome by controlling RNA polymerase II elongation.
Pascal C, Zonszain J, Hameiri O, Gargi-Levi C, Lev-Maor G, Tammer L, Levy T, Tarabeih A, Roy VR, Ben-Salmon S, Elbaz L, Eid M, Hakim T, Abu Rabe'a S, Shalev N, Jordan A, Meshorer E, Ast G. Pascal C, et al. Among authors: ast g. Mol Cell. 2023 Nov 2;83(21):3801-3817.e8. doi: 10.1016/j.molcel.2023.10.003. Mol Cell. 2023. PMID: 37922872 Free article.
Food-seeking behavior is triggered by skin ultraviolet exposure in males.
Parikh S, Parikh R, Michael K, Bikovski L, Barnabas G, Mardamshina M, Hemi R, Manich P, Goldstein N, Malcov-Brog H, Ben-Dov T, Glaich O, Liber D, Bornstein Y, Goltseker K, Ben-Bezalel R, Pavlovsky M, Golan T, Spitzer L, Matz H, Gonen P, Percik R, Leibou L, Perluk T, Ast G, Frand J, Brenner R, Ziv T, Khaled M, Ben-Eliyahu S, Barak S, Karnieli-Miller O, Levin E, Gepner Y, Weiss R, Pfluger P, Weller A, Levy C. Parikh S, et al. Among authors: ast g. Nat Metab. 2022 Jul;4(7):883-900. doi: 10.1038/s42255-022-00587-9. Epub 2022 Jul 11. Nat Metab. 2022. PMID: 35817855 Free PMC article.
Gene architecture directs splicing outcome in separate nuclear spatial regions.
Tammer L, Hameiri O, Keydar I, Roy VR, Ashkenazy-Titelman A, Custódio N, Sason I, Shayevitch R, Rodríguez-Vaello V, Rino J, Lev Maor G, Leader Y, Khair D, Aiden EL, Elkon R, Irimia M, Sharan R, Shav-Tal Y, Carmo-Fonseca M, Ast G. Tammer L, et al. Among authors: ast g. Mol Cell. 2022 Mar 3;82(5):1021-1034.e8. doi: 10.1016/j.molcel.2022.02.001. Epub 2022 Feb 18. Mol Cell. 2022. PMID: 35182478 Free article.
DNA methylation directs microRNA biogenesis in mammalian cells.
Glaich O, Parikh S, Bell RE, Mekahel K, Donyo M, Leader Y, Shayevitch R, Sheinboim D, Yannai S, Hollander D, Melamed Z, Lev-Maor G, Ast G, Levy C. Glaich O, et al. Among authors: ast g. Nat Commun. 2019 Dec 11;10(1):5657. doi: 10.1038/s41467-019-13527-1. Nat Commun. 2019. PMID: 31827083 Free PMC article.
102 results