Interpretable machine learning identifies paediatric Systemic Lupus Erythematosus subtypes based on gene expression data

Autor: Sara A. Yones, Alva Annett, Patricia Stoll, Klev Diamanti, Linda Holmfeldt, Carl Fredrik Barrenäs, Jennifer R. S. Meadows, Jan Komorowski

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Abstract Transcriptomic analyses are commonly used to identify differentially expressed genes between patients and controls, or within individuals across disease courses. These methods, whilst effective, cannot encompass the combinatorial effects of

Externí odkaz: https://doaj.org/article/5a0cfc4912a946c3bb1a8fc5bb9e9dc2

Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children

Autor: Svea Stratmann, Mattias Vesterlund, Husen M. Umer, Saeed Eshtad, Aron Skaftason, Morten Krogh Herlin, Christer Sundström, Anna Eriksson, Martin Höglund, Josefine Palle, Jonas Abrahamsson, Kirsi Jahnukainen, Monica Cheng Munthe-Kaas, Bernward Zeller, Katja Pokrovskaja Tamm, Cecilia Lindskog, Lucia Cavelier, Janne Lehtiö, Linda Holmfeldt

Publikováno v: Stratmann, S, Vesterlund, M, Umer, H M, Eshtad, S, Skaftason, A, Herlin, M K, Sundström, C, Eriksson, A, Höglund, M, Palle, J, Abrahamsson, J, Jahnukainen, K, Munthe-Kaas, M C, Zeller, B, Tamm, K P, Lindskog, C, Cavelier, L, Lehtiö, J & Holmfeldt, L 2023, ' Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children ', Leukemia, vol. 37, no. 3, pp. 550–559 . https://doi.org/10.1038/s41375-022-01796-7
Leukemia

Despite improvement of current treatment strategies and novel targeted drugs, relapse and treatment resistance largely determine the outcome for acute myeloid leukemia (AML) patients. To identify the underlying molecular characteristics, numerous stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c56d45cfe983f5e3b153d5cdeae48c2
https://pure.au.dk/portal/da/publications/proteogenomic-analysis-of-acute-myeloid-leukemia-associates-relapsed-disease-with-reprogrammed-energy-metabolism-both-in-adults-and-children(ce2db4d1-e3de-43f1-90c3-0552268840be).html

Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia

Autor: Anni Aggerholm, Charlotte Guldborg Nyvold, Kristian Løvvik Juul-Dam, Svea Stratmann, Linda Holmfeldt, Birgitte Lausen, Hans Beier Ommen, Maria Hansen, Henrik Hasle, Anne-Sofie Skou

Publikováno v: Skou, A-S, Juul-Dam, K L, Hansen, M, Lausen, B, Stratmann, S, Holmfeldt, L, Aggerholm, A, Nyvold, C G, Ommen, H B & Hasle, H 2021, ' Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia ', The Journal of molecular diagnostics : JMD, vol. 23, no. 12, pp. 1787-1799 . https://doi.org/10.1016/j.jmoldx.2021.09.004
Skou, A S, Juul-Dam, K L, Hansen, M, Lausen, B, Stratmann, S, Holmfeldt, L, Aggerholm, A, Nyvold, C G, Ommen, H B & Hasle, H 2021, ' Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia ', Journal of Molecular Diagnostics, vol. 23, no. 12, pp. 1787-1799 . https://doi.org/10.1016/j.jmoldx.2021.09.004

Overexpressed genes may be useful for monitoring of measurable residual disease (MRD) in patients with childhood acute myeloid leukemia (AML) without a leukemia-specific target. The normal expression of five leukemia-associated genes (SPAG6, ST18, MS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27b0e4d65dd29b053208fd282f37be6
https://pubmed.ncbi.nlm.nih.gov/34600138

Genomic and Transcriptomic Characterization of Adult and Pediatric Relapsed Acute Myeloid Leukemia Reveals Novel Therapeutic Targets

Autor: Svea Stratmann, Katja Pokrovskaja Tamm, Anna Eriksson, Martin Höglund, Markus Mayrhofer, Jitong Sun, Morten Krogh Herlin, Sara A. Yones, Kirsi Jahnukainen, Aron Skaftason, Linda Holmfeldt, Lucia Cavelier, Nina Norgren, Josefine Palle

Publikováno v: Stratmann, S, Yones, S A, Sun, J, Skaftason, A, Mayrhofer, M, Norgren, N, Herlin, M K, Eriksson, A, Hoglund, M, Palle, J, Jahnukainen, K, Pokrovskaja, K, Cavalier, L & Holmfeldt, L 2020, ' Genomic and Transcriptomic Characterization of Adult and Pediatric Relapsed Acute Myeloid Leukemia Reveals Novel Therapeutic Targets ', Blood, vol. 136, no. Supplement 1, pp. 37-38 . https://doi.org/10.1182/blood-2020-139427

Acute myeloid leukemia (AML) is the overall most common form of acute leukemia, characterized by a high relapse frequency and low long-term survival rate especially for adults. Even though children with AML have a better prognosis than adults, patien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c70440aa0a0b2ba00ddae078aa92c59
https://doi.org/10.1182/blood-2020-139427

Rare allelic forms of PRDM9 associated with childhood leukemogenesis

Autor: Jing Ma, Julie Hussin, Linda Holmfeldt, Lei Wei, Philip Awadalla, Greg Gibson, Jean-Christophe Grenier, Daniel Sinnett, Virginie Saillour, Jasmine Healy, Gregor Andelfinger, Jean-François Spinella, James R. Downing, Charles G. Mullighan, Thibault De Malliard, Ferran Casals, Vanessa Bruat, Jinghui Zhang, Youssef Idaghdour, Stephan Busche, Anna Andersson, Mathieu Larivière

Publikováno v: Genome Research. 23:419-430

One of the most rapidly evolving genes in humans, PRDM9, is a key determinant of the distribution of meiotic recombination events. Mutations in this meiotic-specific gene have previously been associated with male infertility in humans and recent stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a028119f6baee05b7a620f94a62b69f0
https://doi.org/10.1101/gr.144188.112