Osteosarcomas With Few Chromosomal Alterations or Adult Onset Are Genetically Heterogeneous

Authors: Difilippo, Valeria, Saba, Karim H., Styring, Emelie, Magnusson, Linda, Nilsson, Jenny, Nathrath, Michaela, Baumhoer, Daniel, Nord, Karolin H.

Source: In Laboratory Investigation January 2024 104(1)

Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side‐by‐side comparison in karyotypically normal cells

Authors: Andersson, Natalie, Saba, Karim H., Magnusson, Linda, Nilsson, Jenny, Karlsson, Jenny, Nord, Karolin H., Gisselsson, David

Source: Genes, chromosomes & cancer. 62(2):93-100

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168361544.0x000001&indx=1&recIds=ETOCvdc_100168361544.0x000001

Identification of COL1A1/2 Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)

Authors: Kao, Yu-Chien, Yoshida, Akihiko, Hsieh, Tsung-Han, Nord, Karolin H., Saba, Karim H., Ichikawa, Hitoshi, Tsai, Jen-Wei, Huang, Hsuan-Ying, Chih-Hsueh Chen, Paul, Fletcher, Christopher D.M., Lee, Jen-Chieh

Source: In Modern Pathology February 2023 36(2)

Aquaglyceroporins and orthodox aquaporins in human adipocytes

Authors: Huang, Peng, Hansen, Jesper S., Saba, Karim H., Bergman, Anna, Negoita, Florentina, Gourdon, Pontus, Hagström-Andersson, Anna, Lindkvist-Petersson, Karin

Source: In BBA - Biomembranes 1 February 2022 1864(1)

Loss of NF2 defines a genetic subgroup of non‐FOS‐rearranged osteoblastoma

Authors: Saba, Karim H, Cornmark, Louise, Hofvander, Jakob, Magnusson, Linda, Nilsson, Jenny, Bos, Hilda, Spierings, Diana CJ, Foijer, Floris, Staaf, Johan, Brosjö, Otte, Sumathi, Vaiyapuri P, Lam, Suk Wai, Szuhai, Karoly, Bovée, Judith VMG, Kovac, Michal, Baumhoer, Daniel, Styring, Emelie, Nord, Karolin H

Source: Journal of pathology.Clinical research. 6(4):231-237

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108631579.0x000001&indx=1&recIds=ETOCvdc_100108631579.0x000001

NTRK fusions in osteosarcoma are rare and non‐functional events

Authors: Ameline, Baptiste, Saba, Karim H, Kovac, Michal, Magnusson, Linda, Witt, Olaf, Bielack, Stefan, Nathrath, Michaela, Nord, Karolin H, Baumhoer, Daniel

Source: Journal of pathology.Clinical research. 6(2):107-112

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106685529.0x000001&indx=1&recIds=ETOCvdc_100106685529.0x000001

CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma.

Authors: Saba, Karim H., Difilippo, Valeria, Styring, Emelie, Nilsson, Jenny, Magnusson, Linda, van den Bos, Hilda, Wardenaar, René, Spierings, Diana C. J., Foijer, Floris, Nathrath, Michaela, Haglund de Flon, Felix, Baumhoer, Daniel, Nord, Karolin H.

Source: NPJ Genomic Medicine; 9/25/2024, Vol. 9 Issue 1, p1-12, 12p

Genetic profiling of a chondroblastoma‐like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD, and a targetable FN1‐FGFR1 gene fusion

Authors: Saba, Karim H., Cornmark, Louise, Rissler, Marianne, Fioretos, Thoas, Åström, Kristina, Haglund, Felix, Rosenberg, Andrew E., Brosjö, Otte, Nord, Karolin H.

Source: Genes, chromosomes & cancer. 58(10):731-736

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087261988.0x000001&indx=1&recIds=ETOCvdc_100087261988.0x000001

Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.

Authors: Saba, Karim H, Difilippo, Valeria, Kovac, Michal, Cornmark, Louise, Magnusson, Linda, Nilsson, Jenny, van den Bos, Hilda, Spierings, Diana CJ, Bidgoli, Mahtab, Jonson, Tord, Sumathi, Vaiyapuri P, Brosjö, Otte, Staaf, Johan, Foijer, Floris, Styring, Emelie, Nathrath, Michaela, Baumhoer, Daniel, Nord, Karolin H

Source: Journal of Pathology; Feb2024, Vol. 262 Issue 2, p147-160, 14p

Subject Terms: CELLULAR signal transduction, GENE fusion, OSTEOSARCOMA, GAIN-of-function mutations, CANCER cell proliferation

Company/Entity: JOHN Wiley & Sons Inc.

Clonal competition within complex evolutionary hierarchies shapes AML over time

Authors: Sandén, Carl, Lilljebjörn, Henrik, Orsmark Pietras, Christina, Henningsson, Rasmus, Saba, Karim H., Landberg, Niklas, Thorsson, Hanna, von Palffy, Sofia, Peña-Martinez, Pablo, Högberg, Carl, Rissler, Marianne, Gisselsson, David, Lazarevic, Vladimir, Juliusson, Gunnar, Ågerstam, Helena, Fioretos, Thoas

Source: Nature communications. 11(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174627981.0x000001&indx=1&recIds=ETOCvdc_100174627981.0x000001

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Identification of COL1A1/2Mutations and Fusions With Noncoding RNA Genes in Bizarre Parosteal Osteochondromatous Proliferation (Nora Lesion)

Authors: Kao, Yu-Chien, Yoshida, Akihiko, Hsieh, Tsung-Han, Nord, Karolin H., Saba, Karim H., Ichikawa, Hitoshi, Tsai, Jen-Wei, Huang, Hsuan-Ying, Chih-Hsueh Chen, Paul, Fletcher, Christopher D.M., Lee, Jen-Chieh

Source: Modern Pathology; February 2023, Vol. 36 Issue: 2

Osteosarcomas with few chromosomal alterations and/or affecting adults are genetically heterogeneous

Authors: Difilippo, Valeria, Saba, Karim H., Styring, Emelie, Magnusson, Linda, Nilsson, Jenny, Nathrath, Michaela, Baumhoer, Daniel, H. Nord, Karolin

Source: Laboratory Investigation; 20230101, Issue: Preprints