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Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience.
Shamriz O, Rubin L, Simon AJ, Lev A, Barel O, Somech R, Korem M, Matza Porges S, Freund T, Hagin D, Garty BZ, Nahum A, Molho Pessach V, Tal Y. Shamriz O, et al. Among authors: barel o. Front Immunol. 2022 Dec 20;13:1044933. doi: 10.3389/fimmu.2022.1044933. eCollection 2022. Front Immunol. 2022. PMID: 36605204 Free PMC article.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Among authors: barel o. Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. Am J Hum Genet. 2019. PMID: 30735662 Free PMC article. No abstract available.
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R. Simon AJ, et al. Among authors: barel o. J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18. J Exp Med. 2016. PMID: 27432940 Free PMC article.
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.
Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y. Somech R, et al. Among authors: barel o. J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10. J Immunol. 2017. PMID: 29127144 Free PMC article.
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Vardi I, Barel O, Sperber M, Schvimer M, Nunberg M, Field M, Ouahed J, Marek-Yagel D, Werner L, Haberman Y, Lahad A, Anikster Y, Rechavi G, Barshack I, McElwee JJ, Maranville J, Somech R, Snapper SB, Weiss B, Shouval DS. Vardi I, et al. Among authors: barel o. Dig Dis Sci. 2018 May;63(5):1192-1199. doi: 10.1007/s10620-018-4983-x. Epub 2018 Feb 26. Dig Dis Sci. 2018. PMID: 29484573 Free PMC article.
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A. Tirosh I, et al. Among authors: barel o. Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y. Pediatr Rheumatol Online J. 2019. PMID: 31362757 Free PMC article.
113 results