{"entity": "journal", "iuid": "82859e2ec3374f60946eea3f77f297ec", "timestamp": "2026-05-19T01:11:17.470Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Pediatr%20Blood%20Cancer.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Pediatr%20Blood%20Cancer"}}, "title": "Pediatr Blood Cancer", "issn": "1545-5017", "issn-l": "1545-5009", "publications_count": 4, "publications": [{"entity": "publication", "iuid": "7168698f97694d46ba7aae5af6601e25", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7168698f97694d46ba7aae5af6601e25.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7168698f97694d46ba7aae5af6601e25"}}, "title": "Evaluation of TRPA1 as a Therapeutic Target in MYCN-Amplified Neuroblastoma.", "authors": [{"family": "Seger", "given": "Alexandra", "initials": "A", "orcid": "0000-0003-3191-5302", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfcd0a0a226c417eac8e0a48eedd4e7c.json"}}, {"family": "Adami\u010d", "given": "Dora", "initials": "D"}, {"family": "Olmos", "given": "Erick Muci\u00f1o", "initials": "EM"}, {"family": "Nilsson", "given": "Johannes", "initials": "J", "orcid": "0009-0004-3976-526X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d1c6ff03f6da452e9bb867a959d84ab8.json"}}, {"family": "Granados-Aparici", "given": "Sofia", "initials": "S"}, {"family": "Vieco-Marti", "given": "Isaac", "initials": "I"}, {"family": "Esfandyari", "given": "Javanshir", "initials": "J"}, {"family": "Engstr\u00f6m", "given": "Matilda", "initials": "M"}, {"family": "Martinez", "given": "Julia", "initials": "J", "orcid": "0009-0004-4050-8439", "researcher": {"href": "https://publications.scilifelab.se/researcher/702e1de02611472097fd90ea328a0630.json"}}, {"family": "Ma\u00f1as", "given": "Adriana", "initials": "A", "orcid": "0000-0002-6955-1754", "researcher": {"href": "https://publications.scilifelab.se/researcher/7220571c605044f980abf2933374aa1a.json"}}, {"family": "Navarro", "given": "Samuel", "initials": "S"}, {"family": "Noguera", "given": "Rosa", "initials": "R"}, {"family": "Aaltonen", "given": "Kristina", "initials": "K", "orcid": "0000-0001-5104-735X", "researcher": {"href": "https://publications.scilifelab.se/researcher/68a63e2719d246a99fc51e8e3ed05cee.json"}}, {"family": "Bexell", "given": "Daniel", "initials": "D", "orcid": "0000-0001-9426-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/dda650768a264d93a80f40da6cb8d7e1.json"}}], "type": "journal article", "published": "2025-09-00", "journal": {"title": "Pediatr Blood Cancer", "issn": "1545-5017", "volume": "72", "issue": "9", "pages": "e31875", "issn-l": "1545-5009"}, "abstract": "Neuroblastoma (NB) is a childhood cancer with a high relapse rate despite intensive treatment. TRPA1 is a pain-sensing ion channel with downstream impacts on proliferative and pro-apoptotic pathways. Here, we evaluated TRPA1 expression in NB and performed pharmacological inhibition in preclinical models to assess its potential as a therapeutic target in NB.\n\nTRPA1 protein levels were assessed in NB patient tumors on tissue microarrays. Bulk and single-cell gene expression data were retrieved from publicly available databases. The effects of three TRPA1 inhibitors (AP-18, A967079, and Bay 390) on NB cell viability and cell death were evaluated using NB patient-derived xenograft (PDX)-derived organoids. In vivo testing was performed in a MYCN-amplified NB PDX model. Drug combination testing was performed using combination or sequential treatments and evaluated using drug synergy scores.\n\nTRPA1 is widely expressed in NB patient tumors and preclinical patient-derived NB models. Pharmacological TRPA1 inhibition decreased NB cell viability and increased cell death. In vivo TRPA1 inhibition alone did not significantly affect NB tumor growth. Pretreatment with TRPA1 inhibition prior to chemotherapy resulted in synergistic effects in vitro.\n\nTRPA1 is expressed in NB tumors, and pharmacological TRPA1 inhibition can be effective in vitro and synergistic when used as pretreatment to chemotherapy. However, the tested inhibitors did not show in vivo efficacy, at least as monotherapy.", "doi": "10.1002/pbc.31875", "pmid": "40556352", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2025-11-28T10:40:42.039Z", "modified": "2025-11-28T10:40:42.266Z"}, {"entity": "publication", "iuid": "87197312dd8d4e218bb795032ca93510", "links": {"self": {"href": "https://publications.scilifelab.se/publication/87197312dd8d4e218bb795032ca93510.json"}, "display": {"href": "https://publications.scilifelab.se/publication/87197312dd8d4e218bb795032ca93510"}}, "title": "Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation.", "authors": [{"family": "Muleviciene", "given": "Audrone", "initials": "A", "orcid": "0000-0002-5689-108X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dada8ff0f5b248bea1de5818e3793e4f.json"}}, {"family": "Sekine", "given": "Takuya", "initials": "T"}, {"family": "Zondag", "given": "Timo", "initials": "T"}, {"family": "Bryceson", "given": "Yenan T", "initials": "YT", "orcid": "0000-0002-7783-9934", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce63349a03924444836215ffd201d2e3.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Rascon", "given": "Jelena", "initials": "J"}], "type": "editorial", "published": "2021-12-16", "journal": {"title": "Pediatr Blood Cancer", "issn": "1545-5017", "issn-l": "1545-5009", "volume": null, "issue": null, "pages": "e29487"}, "abstract": null, "doi": "10.1002/pbc.29487", "pmid": "34913575", "labels": {"Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2021-12-16T15:07:19.261Z", "modified": "2023-05-22T11:22:59.507Z"}, {"entity": "publication", "iuid": "ad17ccb1d94243f1964f4393fe3c02e0", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ad17ccb1d94243f1964f4393fe3c02e0.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ad17ccb1d94243f1964f4393fe3c02e0"}}, "title": "Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers.", "authors": [{"family": "Valind", "given": "Anders", "initials": "A"}, {"family": "Wessman", "given": "Sandra", "initials": "S"}, {"family": "Pal", "given": "Niklas", "initials": "N"}, {"family": "Karlsson", "given": "Jenny", "initials": "J"}, {"family": "Jonson", "given": "Tord", "initials": "T"}, {"family": "Sandstedt", "given": "Bengt", "initials": "B"}, {"family": "Gisselsson", "given": "David", "initials": "D"}], "type": "journal article", "published": "2018-11-00", "journal": {"title": "Pediatr Blood Cancer", "issn": "1545-5017", "volume": "65", "issue": "11", "pages": "e27301", "issn-l": "1545-5009"}, "abstract": "Wilms tumors in patients with constitutional WT1 mutations are examples of Knudson's tumor suppressor paradigm, with somatic inactivation of the second allele occurring through 11p loss of heterozygosity. The time point of this second hit has remained unknown. We analyzed seven Wilms tumors from two patients with constitutional WT1 mutations by whole exome sequencing and genomic array. All tumors exhibited wild type WT1 loss through uniparental isodisomy. Each tumor had a unique genomic breakpoint in 11p, typically accompanied by a private activating mutation of CTNNB1. Hence, convergent evolution rather than field carcinogenesis underlies multifocal tumors in WT1 mutation carriers.", "doi": "10.1002/pbc.27301", "pmid": "29968962", "labels": {"Clinical Genomics Lund": "Service", "Clinical Genomics": "Service"}, "xrefs": [], "notes": [], "created": "2019-01-08T08:39:37.781Z", "modified": "2019-01-08T08:39:37.785Z"}, {"entity": "publication", "iuid": "46c57c089f404bc792706ca3baa9d9be", "links": {"self": {"href": "https://publications.scilifelab.se/publication/46c57c089f404bc792706ca3baa9d9be.json"}, "display": {"href": "https://publications.scilifelab.se/publication/46c57c089f404bc792706ca3baa9d9be"}}, "title": "DNA methylation profiling of pediatric B-cell lymphoblastic leukemia with KMT2A rearrangement identifies hypomethylation at enhancer sites.", "authors": [{"family": "Bergmann", "given": "Anke K", "initials": "AK"}, {"family": "Castellano", "given": "Giancarlo", "initials": "G"}, {"family": "Alten", "given": "Julia", "initials": "J"}, {"family": "Ammerpohl", "given": "Ole", "initials": "O"}, {"family": "Kolarova", "given": "Julia", "initials": "J"}, {"family": "Nordlund", "given": "Jessica", "initials": "J", "orcid": "0000-0001-8699-9959", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddf48c9262134821bcc6ce1180049753.json"}}, {"family": "Martin-Subero", "given": "Jose Ignacio", "initials": "JI"}, {"family": "Schrappe", "given": "Martin", "initials": "M"}, {"family": "Siebert", "given": "Reiner", "initials": "R"}], "type": "comparative study", "published": "2017-03-00", "journal": {"volume": "64", "issn": "1545-5017", "issue": "3", "title": "Pediatr Blood Cancer", "issn-l": "1545-5009"}, "abstract": "Deregulation of the epigenome is an important pathogenetic mechanism in acute lymphoblastic leukemia (ALL) with lysine (K)-specific methyltransferase 2A rearrangement (KMT2Ar). We performed array-based DNA methylation profiling of KMT2Ar ALL cells from 26 children in comparison to normal B-cell precursors. Significant changes in DNA methylation in KMT2Ar ALL were identified in 2,545 CpG loci, influenced by age and the translocation partners AFF1 and MLLT1. In KMT2Ar ALL, DNA methylation loss was enriched at enhancers and for certain transcription factor binding sites such as BCL11A, EBF, and MEF2A. In summary, DNA methylation changes in KMT2Ar ALL target enhancers, genes involved in leukemogenesis and normal hematopoiesis, as well as transcription factor networks.", "doi": "10.1002/pbc.26251", "pmid": "27786413", "labels": {"National Genomics Infrastructure": "Technology development", "NGI Uppsala (SNP&SEQ Technology Platform)": "Technology development", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2017-05-03T12:59:45.837Z", "modified": "2024-01-16T13:48:48.363Z"}], "created": "2017-05-09T09:12:12.985Z", "modified": "2020-11-27T13:14:05.106Z"}