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An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. Ziv A, et al. Among authors: tzfati y. J Clin Immunol. 2020 Oct;40(7):1010-1019. doi: 10.1007/s10875-020-00829-z. Epub 2020 Jul 24. J Clin Immunol. 2020. PMID: 32710398
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: tzfati y. 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.
Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.
Porreca RM, Glousker G, Awad A, Matilla Fernandez MI, Gibaud A, Naucke C, Cohen SB, Bryan TM, Tzfati Y, Draskovic I, Londoño-Vallejo A. Porreca RM, et al. Among authors: tzfati y. Nucleic Acids Res. 2018 May 18;46(9):4533-4545. doi: 10.1093/nar/gky173. Nucleic Acids Res. 2018. PMID: 29522136 Free PMC article.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Kermasson L, et al. Among authors: tzfati y. Blood. 2022 Apr 21;139(16):2427-2440. doi: 10.1182/blood.2021010791. Blood. 2022. PMID: 35007328 Free PMC article.
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y. Deng Z, et al. Among authors: tzfati y. Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19. Proc Natl Acad Sci U S A. 2013. PMID: 23959892 Free PMC article.
42 results