International Research Agenda 3P – Medicine Laboratory: Publications

PUBLIKACJE

Manzano A, Weging S, Bezdan D, Borg J, Cahill T, Carnero-Diaz E, Cope H, Deane CS, Etheridge T, Giacomello S, Hardiman G, Leys N, Madrigal P, Mastroleo F, Medina FJ, Mieczkowski J, Fernandez-Rojo MA, Siew K, Szewczyk NJ, Walsh SB, da Silveira WA, Herranz R. Enhancing European capabilities for application of multi-omics studies in biology and biomedicine space research. iScience. 2023 Jul 12;26(9):107289. doi: 10.1016/j.isci.2023.107289. PMID: 37636054; PMCID: PMC10448007.

Urbiola-Salvador V, Jabłońska A, Miroszewska D, Huang Q, Duzowska K, Drężek-Chyła K, Zdrenka M, Śrutek E, Szylberg Ł, Jankowski M, Bała D, Zegarski W, Nowikiewicz T, Makarewicz W, Adamczyk A, Ambicka A, Przewoźnik M, Harazin-Lechowicz A, Ryś J, Filipowicz N, Piotrowski A, Dumanski JP, Li B, Chen Z. Plasma protein changes reflect colorectal cancer development and associated inflammation. Front Oncol. 2023 May 9. doi: 10.3389/fonc.2023.1158261

Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K, Messiaen LM. Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II. Hum Genet. 2023 Apr 25. doi: 10.1007/s00439-023-02555-z. Epub ahead of print. PMID: 37186028.

Mohammadi E, Chojnowska K, Bieńkowski M, Kostecka A, Koczkowska M, Żmijewski MA, Jąkalski M, Ingelsson M, Filipowicz N, Olszewski P, Davies H, Wierzbicka JM, Hyman BT, Dumanski JP, Piotrowski A, Mieczkowski J. Size matters: the impact of nucleus size on results from spatial transcriptomics. J Transl Med. 2023 Apr 21;21(1):270. doi: 10.1186/s12967-023-04129-z. PMID: 37081484; PMCID: PMC10120157.

Leszczynska KB, Dzwigonska M, Estephan H, Moehlenbrink J, Bowler E, Giaccia AJ, Mieczkowski J, Kaminska B, Hammond EM. Hypoxia-mediated regulation of DDX5 through decreased chromatin accessibility and post-translational targeting restricts R-loop accumulation. Mol Oncol. 2023 Apr 4. doi: 10.1002/1878-0261.13431. Epub ahead of print. PMID: 37013907.

Jaśkiewicz M, Moszyńska A, Gebert M, Collawn JF, Bartoszewski R. EPAS1 resistance to miRNA-based regulation contributes to prolonged expression of HIF-2 during hypoxia in human endothelial cells. Gene. 2023 Mar 18;868:147376. doi: 10.1016/j.gene.2023.147376. Epub ahead of print. PMID: 36934786.

Bruhn-Olszewska B, Davies H, Sarkisyan D, Juhas U, Rychlicka-Buniowska E, Wójcik M, Horbacz M, Jąkalski M, Olszewski P, Westholm JO, Smialowska A, Wierzba K, Torinsson Naluai Å, Jern N, Andersson LM, Järhult JD, Filipowicz N, Tiensuu Janson E, Rubertsson S, Lipcsey M, Gisslén M, Hultström M, Frithiof R, Dumanski JP. Loss of Y in leukocytes as a risk factor for critical COVID-19 in men. Genome Med. 2022 Dec 14;14(1):139. doi: 10.1186/s13073-022-01144-5. PMID: 36514076.

Jaśkiewicz M, Moszyńska A, Króliczewski J, Cabaj A, Bartoszewska S, Charzyńska A, Gebert M, Dąbrowski M, Collawn JF, Bartoszewski R. The transition from HIF-1 to HIF-2 during prolonged hypoxia results from reactivation of PHDs and HIF1A mRNA instability. Cell Mol Biol Lett. 2022 Dec 8;27(1):109. doi: 10.1186/s11658-022-00408-7. PMID: 36482296; PMCID: PMC9730601

Koczkowska M, Jąkalski M, Birkholz-Walerzak D, Kostecka A, Iliszko M, Wójcik M, Lewandowski K, Milska-Musa K, Buckley PG, Drężek K, Juhas U, Kuziemska E, Maciejewska A, Pawłowski R, Wasąg B, Filipowicz N, Chojnowska K, Ławrynowicz U, Dumanski JP, Lipska-Ziętkiewicz BS, Mieczkowski J, Piotrowski A. Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype. Sci Rep. 2022 Dec 2;12(1):20854. doi: 10.1038/s41598-022-25308-w. PMID: 36460769.

Perdyan A, Lawrynowicz U, Horbacz M, Kaminska B, Mieczkowski J. Integration of single-cell RNA sequencing and spatial transcriptomics to reveal the glioblastoma heterogeneity. F1000Res. 2022 Oct 17;11:1180. doi: 10.12688/f1000research.126243.2. PMID: 36875988; PMCID: PMC9978243.

Kostecka A, Nowikiewicz T, Olszewski P, Koczkowska M, Horbacz M, Heinzl M, Andreou M, Salazar R, Mair T, Madanecki P, Gucwa M, Davies H, Skokowski J, Buckley PG, Pęksa R, Śrutek E, Szylberg Ł, Hartman J, Jankowski M, Zegarski W, Tiemann-Boege I, Dumanski JP, Piotrowski A. High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing. NPJ Breast Cancer. 2022 Jun 29;8(1):76. doi: 10.1038/s41523-022-00443-9. PMID: 35768433; PMCID: PMC9243094.

Dawczak-Dębicka A, Kufel-Grabowska J, Bartoszkiewicz M, Perdyan A, Jassem J. Complementary and Alternative Therapies in Oncology. Int J Environ Res Public Health. 2022 Apr 21;19(9):5071. doi: 10.3390/ijerph19095071. PMID: 35564468; PMCID: PMC9104744.

Filipowicz N, Drężek K, Horbacz M, Wojdak A, Szymanowski J, Rychlicka-Buniowska E, Juhas U, Duzowska K, Nowikiewicz T, Stańkowska W, Chojnowska K, Andreou M, Ławrynowicz U, Wójcik M, Davies H, Śrutek E, Bieńkowski M, Milian-Ciesielska K, Zdrenka M, Ambicka A, Przewoźnik M, Harazin-Lechowska A, Adamczyk A, Kowalski J, Bała D, Wiśniewski D, Tkaczyński K, Kamecki K, Drzewiecka M, Wroński P, Siekiera J, Ratnicka I, Jankau J, Wierzba K, Skokowski J, Połom K, Przydacz M, Bełch Ł, Chłosta P, Matuszewski M, Okoń K, Rostkowska O, Hellmann A, Sasim K, Remiszewski P, Sierżęga M, Hać S, Kobiela J, Kaska Ł, Jankowski M, Hodorowicz-Zaniewska D, Jaszczyński J, Zegarski W, Makarewicz W, Pęksa R, Szpor J, Ryś J, Szylberg Ł, Piotrowski A, Dumanski JP. Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition. PLoS One. 2022 Apr 7;17(4):e0266111. doi: 10.1371/journal.pone.0266111. PMID: 35390022; PMCID: PMC8989288.

Ljungström V, Mattisson J, Halvardson J, Pandzic T, Davies H, Rychlicka-Buniowska E, Danielsson M, Lacaze P, Cavelier L, Dumanski JP, Baliakas P, Forsberg LA. Loss of Y and clonal hematopoiesis in blood-two sides of the same coin? Leukemia. 2022 Mar;36(3):889-891. doi: 10.1038/s41375-021-01456-2. Epub 2021 Nov 1. PMID: 34725452; PMCID: PMC8885420.

Perdyan A, Jassem J. Impact of Tobacco Smoking on Outcomes of Radiotherapy: A Narrative Review. Curr Oncol. 2022 Mar 24;29(4):2284-2300. doi: 10.3390/curroncol29040186. PMID: 35448160; PMCID: PMC9031077.

Swatler J, Turos-Korgul L, Brewinska-Olchowik M, De Biasi S, Dudka W, Le BV, Kominek A, Cyranowski S, Pilanc P, Mohammadi E, Cysewski D, Kozlowska E, Grabowska-Pyrzewicz W, Wojda U, Basak G, Mieczkowski J, Skorski T, Cossarizza A, Piwocka K. 4-1BBL-containing leukemic extracellular vesicles promote immunosuppressive effector regulatory T cells. Blood Adv. 2022 Mar 22;6(6):1879-1894. doi: 10.1182/bloodadvances.2021006195. PMID: 35130345; PMCID: PMC8941461.

Piotrowski A, Koczkowska M, Poplawski AB, Bartoszewski R, Króliczewski J, Mieczkowska A, Gomes A, Crowley MR, Crossman DK, Chen Y, Lao P, Serra E, Llach MC, Castellanos E, Messiaen LM. Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience. Hum Mutat. 2022 Jan;43(1):74-84. doi: 10.1002/humu.24294. Epub 2021 Nov 15. PMID: 34747535.

Mohammadi E, Tahmoorespur M, Benfeitas R, Altay O, Javadmanesh A, Lam S, Mardinoglu A, Sekhavati MH. _Improvement of the performance of anticancer peptides using a drug repositioning pipeline. Biotechnol J. 2022 Jan;17(1):e2100417. doi: 10.1002/biot.202100417. Epub 2021 Nov 14. PMID: 34657375.

Rydzanicz M, Olszewski P, Kedra D, Davies H, Filipowicz N, Bruhn-Olszewska B, Cavalli M, Szczałuba K, Młynek M, Machnicki MM, Stawiński P, Kostrzewa G, Krajewski P, Śladowski D, Chrzanowska K, Dumanski JP, Płoski R. Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications. Mol Genet Genomic Med. 2021 Jan;9(1):e1526. doi: 10.1002/mgg3.1526. Epub 2020 Dec 14. PMID: 33319479; PMCID: PMC7963419.

Dumanski JP, Halvardson J, Davies H, Rychlicka-Buniowska E, Mattisson J, Moghadam BT, Nagy N, Węglarczyk K, Bukowska-Strakova K, Danielsson M, Olszewski P, Piotrowski A, Oerton E, Ambicka A, Przewoźnik M, Bełch Ł, Grodzicki T, Chłosta PL, Imreh S, Giedraitis V, Kilander L, Nordlund J, Ameur A, Gyllensten U, Johansson Å, Józkowicz A, Siedlar M, Klich-Rączka A, Jaszczyński J, Enroth S, Baran J, Ingelsson M, Perry JRB, Ryś J, Forsberg LA. Immune cells lacking Y chromosome show dysregulation of autosomal gene expression. Cell Mol Life Sci. 2021 Apr;78(8):4019-4033. doi: 10.1007/s00018-021-03822-w. Epub 2021 Apr 10. PMID: 33837451; PMCID: PMC8106578.

Stępniak K, Machnicka MA, Mieczkowski J, Macioszek A, Wojtaś B, Gielniewski B, Poleszak K, Perycz M, Król SK, Guzik R, Dąbrowski MJ, Dramiński M, Jardanowska M, Grabowicz I, Dziedzic A, Kranas H, Sienkiewicz K, Diamanti K, Kotulska K, Grajkowska W, Roszkowski M, Czernicki T, Marchel A, Komorowski J, Kaminska B, Wilczyński B. Mapping chromatin accessibility and active regulatory elements reveals pathological mechanisms in human gliomas. Nat Commun. 2021 Jun 15;12(1):3621. doi: 10.1038/s41467-021-23922-2. PMID: 34131149; PMCID: PMC8206121.

Mattisson J, Danielsson M, Hammond M, Davies H, Gallant CJ, Nordlund J, Raine A, Edén M, Kilander L, Ingelsson M, Dumanski JP, Halvardson J, Forsberg LA. Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99. Sci Rep. 2021 Jul 26;11(1):15160. doi: 10.1038/s41598-021-94588-5. PMID: 34312421; PMCID: PMC8313698.

Leszczynska KB, Jayaprakash C, Kaminska B, Mieczkowski J. Emerging Advances in Combinatorial Treatments of Epigenetically Altered Pediatric High-Grade H3K27M Gliomas. Front Genet. 2021 Sep 27;12:742561. doi: 10.3389/fgene.2021.742561. PMID: 34646308; PMCID: PMC8503186.

Kaźmierczak-Siedlecka K, Skonieczna-Żydecka K, Biliński J, Roviello G, Iannone LF, Atzeni A, Sobocki BK, Połom K. Gut Microbiome Modulation and Faecal Microbiota Transplantation Following Allogenic Hematopoietic Stem Cell Transplantation. Cancers (Basel). 2021 Sep 17;13(18):4665. doi: 10.3390/cancers13184665. PMID: 34572894; PMCID: PMC8464896.

Danielsson M, Halvardson J, Davies H, Torabi Moghadam B, Mattisson J, Rychlicka-Buniowska E, Jaszczyński J, Heintz J, Lannfelt L, Giedraitis V, Ingelsson M, Dumanski JP, Forsberg LA. Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals. Eur J Hum Genet. 2020 Mar;28(3):349-357. doi: 10.1038/s41431-019-0533-z. Epub 2019 Oct 25. PMID: 31654039; PMCID: PMC7028735.

Skowron PM, Krawczun N, Zebrowska J, Krefft D, Zołnierkiewicz O, Bielawa M, Jezewska-Frackowiak J, Janus L, Witkowska M, Palczewska M, Schumacher A, Wardowska A, Deptula M, Czupryn A, Mucha P, Piotrowski A, Sachadyn P, Rodziewicz-Motowidlo S, Pikula M, Zylicz-Stachula A. A vector-enzymatic DNA fragment amplification-expression technology for construction of artificial, concatemeric DNA, RNA and proteins for novel biomaterials, biomedical and industrial applications. Mater Sci Eng C Mater Biol Appl. 2020 Mar;108:110426. doi: 10.1016/j.msec.2019.110426. Epub 2019 Nov 13. PMID: 31923928.

Thompson DJ, Genovese G, Halvardson J, Ulirsch JC, Wright DJ, Terao C, Davidsson OB, Day FR, Sulem P, Jiang Y, Danielsson M, Davies H, Dennis J, Dunlop MG, Easton DF, Fisher VA, Zink F, Houlston RS, Ingelsson M, Kar S, Kerrison ND, Kinnersley B, Kristjansson RP, Law PJ, Li R, Loveday C, Mattisson J, McCarroll SA, Murakami Y, Murray A, Olszewski P, Rychlicka-Buniowska E, Scott RA, Thorsteinsdottir U, Tomlinson I, Moghadam BT, Turnbull C, Wareham NJ, Gudbjartsson DF; International Lung Cancer Consortium (INTEGRAL-ILCCO); Breast Cancer Association Consortium; Consortium of Investigators of Modifiers of BRCA1/2; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium; Kidney Cancer GWAS Meta-Analysis Project; eQTLGen Consortium; Biobank-based Integrative Omics Study (BIOS) Consortium; 23andMe Research Team, Kamatani Y, Hoffmann ER, Jackson SP, Stefansson K, Auton A, Ong KK, Machiela MJ, Loh PR, Dumanski JP, Chanock SJ, Forsberg LA, Perry JRB. Genetic predisposition to mosaic Y chromosome loss in blood. Nature. 2019 Nov;575(7784):652-657. doi: 10.1038/s41586-019-1765-3. Epub 2019 Nov 20. PMID: 31748747; PMCID: PMC6887549.