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Page 1
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Ferrada MA, et al. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985. Blood. 2022. PMID: 35793467 Free PMC article.
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW, Gutierrez-Rodrigues F, Cooper J, Jiang J, Gandhi S, Kajigaya S, Feng X, Ibanez MDPF, Donaires FS, Lopes da Silva JP, Li Z, Das S, Ibanez M, Smith AE, Lea N, Best S, Ireland R, Kulasekararaj AG, McLornan DP, Pagliuca A, Callebaut I, Young NS, Calado RT, Townsley DM, Mufti GJ. Marsh JCW, et al. Blood Adv. 2018 Jan 4;2(1):36-48. doi: 10.1182/bloodadvances.2017008110. eCollection 2018 Jan 9. Blood Adv. 2018. PMID: 29344583 Free PMC article.
Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.
Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE. Fan X, et al. Blood Adv. 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. Blood Adv. 2020. PMID: 32330244 Free PMC article. Clinical Trial.
[No title available]
[No authors listed] [No authors listed] PMID: 32439728
Detectable mutations precede late myeloid neoplasia in aplastic anemia.
Patel BA, Ghannam J, Groarke EM, Goswami M, Dillon L, Gutierrez-Rodrigues F, Rios O, Raffo DQ, Lotter J, Young NS, Hourigan CS. Patel BA, et al. Haematologica. 2021 Feb 1;106(2):647-650. doi: 10.3324/haematol.2020.263046. Haematologica. 2021. PMID: 33054127 Free PMC article. No abstract available.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Beck DB, et al. N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27. N Engl J Med. 2020. PMID: 33108101 Free PMC article.
Eltrombopag monotherapy can improve hematopoiesis in patients with low to intermediate risk-1 myelodysplastic syndrome.
Vicente A, Patel BA, Gutierrez-Rodrigues F, Groarke E, Giudice V, Lotter J, Feng X, Kajigaya S, Weinstein B, Barranta E, Olnes MJ, Parikh AR, Albitar M, Wu CO, Shalhoub R, Calvo KR, Townsley DM, Scheinberg P, Dunbar CE, Young NS, Winkler T. Vicente A, et al. Haematologica. 2020 Dec 1;105(12):2785-2794. doi: 10.3324/haematol.2020.249995. Haematologica. 2020. PMID: 33256377 Free PMC article.
40 results