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A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy.
Perfitt TL, Huichalaf C, Gooch R, Kuperman A, Ahn Y, Chen X, Ullas S, Hirenallur-Shanthappa D, Zhan Y, Otis D, Whiteley LO, Bulawa C, Martelli A. Perfitt TL, et al. Among authors: kuperman a. Am J Physiol Heart Circ Physiol. 2024 Feb 1;326(2):H357-H369. doi: 10.1152/ajpheart.00496.2023. Epub 2023 Dec 1. Am J Physiol Heart Circ Physiol. 2024. PMID: 38038720
In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency.
Huichalaf C, Perfitt TL, Kuperman A, Gooch R, Kovi RC, Brenneman KA, Chen X, Hirenallur-Shanthappa D, Ma T, Assaf BT, Pardo I, Franks T, Monarski L, Cheng TW, Le K, Su C, Somanathan S, Whiteley LO, Bulawa C, Pregel MJ, Martelli A. Huichalaf C, et al. Among authors: kuperman a. Mol Ther Methods Clin Dev. 2022 Feb 7;24:367-378. doi: 10.1016/j.omtm.2022.02.002. eCollection 2022 Mar 10. Mol Ther Methods Clin Dev. 2022. PMID: 35252470 Free PMC article.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: kuperman aa. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Yacobovich J, Rabinowicz R, Goldberg T, Kuperman AA, Abu-Quider A, Miskin H, Kapelushnik N, Mandel-Shorer N, Shimony S, Harlev D, Ben-Ami T, Adam E, Levin C, Aviner S, Elhasid R, Berger-Achituv S, Chaitman-Yerushalmi L, Kodman Y, Oniashvilli N, Hameiri-Grosman M, Izraeli S, Tamary H, Steinberg-Shemer O. Gilad O, et al. Among authors: kuperman aa. Haematologica. 2022 Sep 1;107(9):2081-2095. doi: 10.3324/haematol.2021.280116. Haematologica. 2022. PMID: 35295078 Free PMC article.
Improved transplant outcomes with myeloablative conditioning for hemophagocytic lymphohistiocytosis in HLA-matched and mismatched donors: a national multicenter retrospective study.
Greental Ness Y, Kuperman AA, Stein J, Yacobovich J, Even-Or E, Zaidman I, Gefen A, Nevo N, Oberman B, Toren A, Stepensky P, Bielorai B, Jacoby E. Greental Ness Y, et al. Among authors: kuperman aa. Bone Marrow Transplant. 2021 Sep;56(9):2088-2096. doi: 10.1038/s41409-021-01290-1. Epub 2021 Apr 12. Bone Marrow Transplant. 2021. PMID: 33846559
Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel.
Marcus N, Frizinsky S, Hagin D, Ovadia A, Hanna S, Farkash M, Maoz-Segal R, Agmon-Levin N, Broides A, Nahum A, Rosenberg E, Kuperman AA, Dinur-Schejter Y, Berkun Y, Toker O, Goldberg S, Confino-Cohen R, Scheuerman O, Badarneh B, Epstein-Rigbi N, Etzioni A, Dalal I, Somech R. Marcus N, et al. Among authors: kuperman aa. Front Immunol. 2021 Jan 14;11:614086. doi: 10.3389/fimmu.2020.614086. eCollection 2020. Front Immunol. 2021. PMID: 33519822 Free PMC article.
137 results