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Page 1
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL; NIHR BioResource Collaborative Group; Downes K, Freson K, van der Reijden BA. van Oorschot R, et al. Among authors: marneth ae. Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20. Haematologica. 2019. PMID: 30573501 Free PMC article. No abstract available.
Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets.
van Oorschot R, Hansen M, Koornneef JM, Marneth AE, Bergevoet SM, van Bergen MGJM, van Alphen FPJ, van der Zwaan C, Martens JHA, Vermeulen M, Jansen PWTC, Baltissen MPA, Gorkom BAPL, Janssen H, Jansen JH, von Lindern M, Meijer AB, van den Akker E, van der Reijden BA. van Oorschot R, et al. Among authors: marneth ae. Haematologica. 2019 Jul;104(7):1460-1472. doi: 10.3324/haematol.2018.194555. Epub 2019 Jan 17. Haematologica. 2019. PMID: 30655368 Free PMC article.
A dominant-negative GFI1B mutation in the gray platelet syndrome.
Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA. Monteferrario D, et al. Among authors: marneth ae. N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10. N Engl J Med. 2014. PMID: 24325358 Free article.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Among authors: marneth ae. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
GFI1 is required for RUNX1/ETO positive acute myeloid leukemia.
Marneth AE, Botezatu L, Hönes JM, Israël JCL, Schütte J, Vassen L, Lams RF, Bergevoet SM, Groothuis L, Mandoli A, Martens JHA, Huls G, Jansen JH, Dührsen U, Berg T, Möröy T, Wichmann C, Lo MC, Zhang DE, van der Reijden BA, Khandanpour C. Marneth AE, et al. Haematologica. 2018 Sep;103(9):e395-e399. doi: 10.3324/haematol.2017.180844. Epub 2018 Apr 19. Haematologica. 2018. PMID: 29674496 Free PMC article. No abstract available.
Whole-genome CRISPR screening identifies N-glycosylation as a genetic and therapeutic vulnerability in CALR-mutant MPNs.
Jutzi JS, Marneth AE, Ciboddo M, Guerra-Moreno A, Jiménez-Santos MJ, Kosmidou A, Dressman JW, Liang H, Hamel R, Lozano P, Rumi E, Doench JG, Gotlib J, Krishnan A, Elf S, Al-Shahrour F, Mullally A. Jutzi JS, et al. Among authors: marneth ae. Blood. 2022 Sep 15;140(11):1291-1304. doi: 10.1182/blood.2022015629. Blood. 2022. PMID: 35763665 Free PMC article.
22 results