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Page 1
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: vulliamy t. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I, Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J, Rouault-Pierre K. Armes H, et al. Among authors: vulliamy t. Br J Haematol. 2022 Dec;199(5):754-764. doi: 10.1111/bjh.18466. Epub 2022 Sep 26. Br J Haematol. 2022. PMID: 36156210 Free PMC article.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M, Crowley S, Kinsler V, Ewins AM, Madapura PM, Patel M, Pontikos N, Codd V, Vulliamy T, Dokal I. Tummala H, et al. Among authors: vulliamy t. Am J Hum Genet. 2022 Aug 4;109(8):1472-1483. doi: 10.1016/j.ajhg.2022.06.014. Am J Hum Genet. 2022. PMID: 35931051 Free PMC article.
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T. Dokal I, et al. Among authors: vulliamy t. Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. Blood. 2022. PMID: 35605178 Free PMC article.
Acquired somatic variants in inherited myeloid malignancies.
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A, Péterffy B, Tummala H, Rouault-Pierre K, Dokal I, Vulliamy T, Fitzgibbon J. Armes H, et al. Among authors: vulliamy t. Leukemia. 2022 May;36(5):1377-1381. doi: 10.1038/s41375-022-01515-2. Epub 2022 Feb 9. Leukemia. 2022. PMID: 35140362 Free PMC article. No abstract available.
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Among authors: vulliamy t. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 Free PMC article.
164 results