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Page 1
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: hoogenboezem rm. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Two splice-factor mutant leukemia subgroups uncovered at the boundaries of MDS and AML using combined gene expression and DNA-methylation profiling.
Taskesen E, Havermans M, van Lom K, Sanders MA, van Norden Y, Bindels E, Hoogenboezem R, Reinders MJ, Figueroa ME, Valk PJ, Löwenberg B, Melnick A, Delwel R. Taskesen E, et al. Blood. 2014 May 22;123(21):3327-35. doi: 10.1182/blood-2013-07-512855. Epub 2014 Mar 25. Blood. 2014. PMID: 24668493 Free article.
Rps14, Csnk1a1 and miRNA145/miRNA146a deficiency cooperate in the clinical phenotype and activation of the innate immune system in the 5q- syndrome.
Ribezzo F, Snoeren IAM, Ziegler S, Stoelben J, Olofsen PA, Henic A, Ferreira MV, Chen S, Stalmann USA, Buesche G, Hoogenboezem RM, Kramann R, Platzbecker U, Raaijmakers MHGP, Ebert BL, Schneider RK. Ribezzo F, et al. Among authors: hoogenboezem rm. Leukemia. 2019 Jul;33(7):1759-1772. doi: 10.1038/s41375-018-0350-3. Epub 2019 Jan 16. Leukemia. 2019. PMID: 30651631
A Single-Cell Taxonomy Predicts Inflammatory Niche Remodeling to Drive Tissue Failure and Outcome in Human AML.
Chen L, Pronk E, van Dijk C, Bian Y, Feyen J, van Tienhoven T, Yildirim M, Pisterzi P, de Jong MME, Bastidas A, Hoogenboezem RM, Wevers C, Bindels EM, Löwenberg B, Cupedo T, Sanders MA, Raaijmakers MHGP. Chen L, et al. Among authors: hoogenboezem rm. Blood Cancer Discov. 2023 Sep 1;4(5):394-417. doi: 10.1158/2643-3230.BCD-23-0043. Blood Cancer Discov. 2023. PMID: 37470778 Free PMC article.
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG, Martens JWM, Prager-van der Smissen WJC, Verkaik NS, Beaufort CM, van Herk S, Robert-Finestra T, Hoogenboezem RM, Ruigrok-Ritstier K, Paul MW, Gribnau J, Bindels EMJ, Kanaar R, Jager A, van Gent DC, Hollestelle A. Meijer TG, et al. Among authors: hoogenboezem rm. Cancers (Basel). 2024 Feb 10;16(4):741. doi: 10.3390/cancers16040741. Cancers (Basel). 2024. PMID: 38398132 Free PMC article.
PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
Olofsen PA, Bosch DA, Roovers O, van Strien PMH, de Looper HWJ, Hoogenboezem RM, Barnhoorn S, Mastroberardino PG, Ghazvini M, van der Velden VHJ, Bindels EMJ, de Pater EM, Touw IP. Olofsen PA, et al. Among authors: hoogenboezem rm. Blood Adv. 2021 Feb 9;5(3):775-786. doi: 10.1182/bloodadvances.2020003214. Blood Adv. 2021. PMID: 33560392 Free PMC article.
Extracellular Vesicles Derived From Adult and Fetal Bone Marrow Mesenchymal Stromal Cells Differentially Promote ex vivo Expansion of Hematopoietic Stem and Progenitor Cells.
Ghebes CA, Morhayim J, Kleijer M, Koroglu M, Erkeland SJ, Hoogenboezem R, Bindels E, van Alphen FPJ, van den Biggelaar M, Nolte MA, van der Eerden BCJ, Braakman E, Voermans C, van de Peppel J. Ghebes CA, et al. Front Bioeng Biotechnol. 2021 Feb 25;9:640419. doi: 10.3389/fbioe.2021.640419. eCollection 2021. Front Bioeng Biotechnol. 2021. PMID: 33718342 Free PMC article.
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease.
Xu Y, Kuppe C, Perales-Patón J, Hayat S, Kranz J, Abdallah AT, Nagai J, Li Z, Peisker F, Saritas T, Halder M, Menzel S, Hoeft K, Kenter A, Kim H, van Roeyen CRC, Lehrke M, Moellmann J, Speer T, Buhl EM, Hoogenboezem R, Boor P, Jansen J, Knopp C, Kurth I, Smeets B, Bindels E, Reinders MEJ, Baan C, Gribnau J, Hoorn EJ, Steffens J, Huber TB, Costa I, Floege J, Schneider RK, Saez-Rodriguez J, Freedman BS, Kramann R. Xu Y, et al. Nat Genet. 2022 Nov;54(11):1690-1701. doi: 10.1038/s41588-022-01202-z. Epub 2022 Oct 27. Nat Genet. 2022. PMID: 36303074 Free PMC article.
49 results