Výsledky vyhledávání - "Myelodysplastic Syndromes/genetics"

Age and sex associate with outcome in older AML and high risk MDS patients treated with 10-day decitabine

Publikováno v: Blood Cancer Journal. 13(1)

Treatment choice according to the individual conditions remains challenging, particularly in older patients with acute myeloid leukemia (AML) and high risk myelodysplastic syndrome (MDS). The impact of performance status, comorbidities, and physical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od________83::07451efcefdc941e05f11fcbeeb5153c
https://doi.org/10.1038/s41408-023-00850-6

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Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms

Autor: Eileen Wedge, Ulvi Ahmadov, Thomas B. Hansen, Zongliang Gao, Morten Tulstrup, Christophe Côme, Sridhar Nonavinkere Srivatsan, Tanzir Ahmed, Jakob S. Jespersen, Balthasar C. Schlotmann, Claudia Schöllkopf, Klas Raaschou-Jensen, Niels Ødum, Jørgen Kjems, Rasmus O. Bak, Matthew J. Walter, Kirsten Grønbæk, Lasse S. Kristensen

Publikováno v: Wedge, E, Ahmadov, U, Hansen, T B, Gao, Z, Tulstrup, M, Côme, C, Nonavinkere Srivatsan, S, Ahmed, T, Jespersen, J S, Schlotmann, B C, Schöllkopf, C, Raaschou-Jensen, K, Ødum, N, Kjems, J, Bak, R O, Walter, M J, Grønbæk, K & Kristensen, L S 2023, ' Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms ', Leukemia, vol. 37, no. 5, pp. 1113-1125 . https://doi.org/10.1038/s41375-023-01866-4

Mutations in U2AF1 are relatively common in myelodysplastic neoplasms (MDS) and are associated with an inferior prognosis, but the molecular mechanisms underlying this are not fully elucidated. Circular RNAs (circRNAs) have been implicated in cancer,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d552d18cfb6225451b91d289182d9379
https://pure.au.dk/portal/da/publications/impact-of-u2af1-mutations-on-circular-rna-expression-in-myelodysplastic-neoplasms(3de8bf0a-a973-4385-b2c9-1ac1bb734ed6).html

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A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation

Autor: Nele Hug, Stuart Aitken, Dasa Longman, Michaela Raab, Hannah Armes, Abigail R. Mann, Ana Rio-Machin, Jude Fitzgibbon, Kevin Rouault-Pierre, Javier F. Cáceres

Publikováno v: Hug, N, Aitken, S, Raab, M, Armes, H, Mann (nee Wilson), A, Rio-machin, A, Fitzgibbon, J, Rouault-Pierre, K & Caceres, J F 2022, ' A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation ', RNA, vol. 28, no. 9, pp. 1224-1238 . https://doi.org/10.1261/rna.079277.122

The DExD/H-box RNA helicase DHX34 is a Nonsense-mediated decay (NMD) factor that together with core NMD factors co-regulates NMD targets in nematodes and in vertebrates. Here, we show that DHX34 is also associated with the human spliceosomal catalyti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3bdb207b70cd3ff583ec968ae86f6ec
https://doi.org/10.1261/rna.079277.122

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Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Autor: Nadine Van Roy, Kirsi Jahnukainen, Danielle E. Arnold, Sioban Keel, Katherine R. Calvo, Gudrun Göhring, Cristina Mecucci, Charlotte M. Niemeyer, Joelle Tchinda, Alison A. Bertuch, Jochen Buechner, Dennis D. Hickstein, Olga Haus, Peter Nöllke, Shlomit Barzilai-Birenboim, Courtney D. DiNardo, Martin Čermák, Helena Alaiz, Ayami Yoshimi, Hiroto Inaba, Sara Lewis, Steven M. Holland, Shinsuke Hirabayashi, Brigitte Schlegelberger, Victor B Pastor, Dominik Turkiewicz, Emilia J Kozyra, Hajnalka Andrikovics, Amy P. Hsu, Mark D. Fleming, David R. Betts, Henrik Hasle, Karin Nebral, Masahiro Onozawa, Valerie de Haas, Jan Stary, José Cervera, Francesco Pasquali, Akiko Shimamura, Kalliopi N. Manola, Michael Dworzak, Kiran Tawana, Zuzana Zemanova, Marcin W. Wlodarski, Shaohua Lei, H. Berna Beverloo, Brigitte Strahm

Publikováno v: Kozyra, E J, Göhring, G, Hickstein, D D, Calvo, K R, DiNardo, C D, Dworzak, M, de Haas, V, Starý, J, Hasle, H, Shimamura, A, Fleming, M D, Inaba, H, Lewis, S, Hsu, A P, Holland, S M, Arnold, D E, Mecucci, C, Keel, S B, Bertuch, A A, Tawana, K, Barzilai, S, Hirabayashi, S, Onozawa, M, Lei, S, Alaiz, H, Andrikovics, H, Betts, D, Beverloo, B H, Buechner, J, Čermák, M, Cervera, J, Haus, O, Jahnukainen, K, Manola, K N, Nebral, K, Pasquali, F, Tchinda, J, Turkiewicz, D, Van Roy, N, Zemanova, Z, Pastor, V B, Strahm, B, Noellke, P, Niemeyer, C M, Schlegelberger, B, Yoshimi, A & Wlodarski, M W 2021, ' Association of unbalanced translocation der(1;7) with germline GATA2 mutations ', Blood, vol. 138, no. 23, pp. 2441-2445 . https://doi.org/10.1182/blood.2021012781
Blood, 138(23), 2441-2445. American Society of Hematology
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac915d144b3e5e29067d37c55b8eaea0
https://pure.au.dk/ws/files/274410748/Primary_cytotoxic_T_cell_lymphomas_harbor_recurrent_targetable_alterations_in_the_JAK_STAT_pathway.pdf

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Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS : an under-recognized but prognostically important complication

Autor: Abdulla Watad, Mark Kacar, Nicola Luigi Bragazzi, Qiao Zhou, Miriam Jassam, Jan Taylor, Eve Roman, Alexandra Smith, Richard A. Jones, Howard Amital, Catherine Cargo, Dennis McGonagle, Sinisa Savic

Publikováno v: Frontiers in immunology, vol. 12, pp. 1-12, 2021.
Frontiers in Immunology
Frontiers in Immunology, Vol 12 (2021)

Objectives: We theorized that myelodysplastic syndrome (MDS) with somatic mutations and karyotype abnormalities are associated with autoinflammation, and that the presence of autoinflammatory disease affected prognosis in MDS.Methods: One hundred thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c339990a31ee38d9f3859f1b94ba5cc
https://dirros.openscience.si/IzpisGradiva.php?id=13806

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Publikováno v: Haematologica
Pastor, V B, Sahoo, S, Boklan, J, Schwabe, G C, Saribeyoglu, E, Strahm, B, Lebrecht, D, Voss, M, Bryceson, Y T, Erlacher, M, Ehninger, G, Niewisch, M, Schlegelberger, B, Baumann, I, Achermann, J C, Shimamura, A, Hochrein, J, Tedgård, U, Nilsson, L, Hasle, H, Boerries, M, Busch, H, Niemeyer, C M & Wlodarski, M W 2018, ' Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 ', Haematologica, vol. 103, no. 3, pp. 427-437 . https://doi.org/10.3324/haematol.2017.180778

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6697ad7376bd525d80809dec365795
http://europepmc.org/articles/PMC5830370

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