{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T07:04:19Z","timestamp":1784271859141,"version":"3.55.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["MedScience"],"DOI":"10.1007\/s11684-026-1223-1","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T06:19:46Z","timestamp":1784269186000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel KMT2A fusion partner genes in acute leukemia\u2014MRTFB, SORBS1, and SSC5D"],"prefix":"10.1007","author":[{"given":"Elena","family":"Zerkalenkova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Gezik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina","family":"Iliasova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Medina","family":"Gurzhikhanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruslan","family":"Abasov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Soldatkina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kazakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yulia","family":"Olshanskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. M.","family":"Popov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Kalinina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandr","family":"Maschan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrey","family":"Sudarikov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Obukhova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Kashlakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zalina","family":"Fidarova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parovichnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Novichkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Maschan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"issue":"12","key":"1223_CR1","doi-asserted-by":"publisher","first-page":"3008","DOI":"10.1158\/2159-8290.CD-20-1631","volume":"11","author":"S Newman","year":"2021","unstructured":"Newman S, Nakitandwe J, Kesserwan CA, Azzato EM, Wheeler DA, Rusch M, Shurtleff S, Hedges DJ, Hamilton KV, Foy SG, Edmonson MN, Thrasher A, Bahrami A, Orr BA, Klco JM, Gu J, Harrison LW, Wang L, Clay MR, Ouma A, Silkov A, Liu Y, Zhang Z, Liu Y, Brady SW, Zhou X, Chang TC, Pande M, Davis E, Becksfort J, Patel A, Wilkinson MR, Rahbarinia D, Kubal M, Maciaszek JL, Pastor V, Knight J, Gout AM, Wang J, Gu Z, Mullighan CG, McGee RB, Quinn EA, Nuccio R, Mostafavi R, Gerhardt EL, Taylor LM, Valdez JM, Hines-Dowell SJ, Pappo AS, Robinson G, Johnson LM, Pui CH, Ellison DW, Downing JR, Zhang J, Nichols KE. Genomes for kids: The scope of pathogenic mutations in pediatric cancer revealed by comprehensive DNA and RNA sequencing. Cancer Discov 2021; 11(12): 3008\u20133027","journal-title":"Cancer Discov"},{"issue":"2","key":"1223_CR2","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s43018-022-00474-y","volume":"4","author":"A Villani","year":"2023","unstructured":"Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations. Nat Cancer 2023; 4(2): 203\u2013221","journal-title":"Nat Cancer"},{"key":"1223_CR3","doi-asserted-by":"publisher","first-page":"1217712","DOI":"10.3389\/fonc.2023.1217712","volume":"13","author":"F Rezayee","year":"2023","unstructured":"Rezayee F, Eisfeldt J, Skaftason A, \u00d6fverholm I, Sayyab S, Syv\u00e4nen AC, Maqbool K, Lilljebj\u00f6rn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogelstrand L, Nordlund J, Wirta V, Rosenquist R, Barbany G. Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia. Front Oncol 2023; 13: 1217712","journal-title":"Front Oncol"},{"issue":"8027","key":"1223_CR4","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.1038\/s41586-024-07807-0","volume":"632","author":"P P\u00f6l\u00f6nen","year":"2024","unstructured":"P\u00f6l\u00f6nen P, Di Giacomo D, Seffernick AE, Elsayed A, Kimura S, Benini F, Montefiori LE, Wood BL, Xu J, Chen C, Cheng Z, Newman H, Myers J, Iacobucci I, Li E, Sussman J, Hedges D, Hui Y, Diorio C, Uppuluri L, Frank D, Fan Y, Chang Y, Meshinchi S, Ries R, Shraim R, Li A, Bernt KM, Devidas M, Winter SS, Dunsmore KP, Inaba H, Carroll WL, Ramirez NC, Phillips AH, Kriwacki RW, Yang JJ, Vincent TL, Zhao Y, Ghate PS, Wang J, Reilly C, Zhou X, Sanders MA, Takita J, Kato M, Takasugi N, Chang BH, Press RD, Loh M, Rampersaud E, Raetz E, Hunger SP, Tan K, Chang TC, Wu G, Pounds SB, Mullighan CG, Teachey DT. The genomic basis of childhood T-lineage acute lymphoblastic leukaemia. Nature 2024; 632(8027): 1082\u20131091","journal-title":"Nature"},{"issue":"11","key":"1223_CR5","doi-asserted-by":"publisher","first-page":"2165","DOI":"10.1038\/leu.2013.135","volume":"27","author":"C Meyer","year":"2013","unstructured":"Meyer C, Hofmann J, Burmeister T, Gr\u00f6ger D, Park TS, Emerenciano M, Pombo De Oliveira M, Renneville A, Villarese P, Macintyre E, Cav\u00e9 H, Clappier E, Mass-Malo K, Zuna J, Trka J, De Braekeleer E, De Braekeleer M, Oh SH, Tsaur G, Fechina L, van der Velden VHJ, van Dongen JJM, Delabesse E, Binato R, Silva MLM, Kustanovich A, Aleinikova O, Harris MH, Lund-Aho T, Juvonen V, Heidenreich O, Vormoor J, Choi WWL, Jarosova M, Kolenova A, Bueno C, Menendez P, Wehner S, Eckert C, Talmant P, Tondeur S, Lippert E, Launay E, Henry C, Ballerini P, Lapillone H, Callanan MB, Cayuela JM, Herbaux C, Cazzaniga G, Kakadiya PM, Bohlander S, Ahlmann M, Choi JR, Gameiro P, Lee DS, Krauter J, Cornillet-Lefebvre P, Te Kronnie G, Sch\u00e4fer BW, Kubetzko S, Alonso CN, zur Stadt U, Sutton R, Venn NC, Izraeli S, Trakhtenbrot L, Madsen HO, Archer P, Hancock J, Cerveira N, Teixeira MR, Lo Nigro L, M\u00f6ricke A, Stanulla M, Schrappe M, Sed\u00e9k L, Szczepa\u0144ski T, Zwaan CM, Coenen EA, van den Heuvel-Eibrink MM, Strehl S, Dworzak M, Panzer-Gr\u00fcmayer R, Dingermann T, Klingebiel T, Marschalek R. The MLL recombinome of acute leukemias in 2013. Leukemia 2013; 27(11): 2165\u20132176","journal-title":"Leukemia"},{"issue":"16","key":"1223_CR6","doi-asserted-by":"publisher","first-page":"9023","DOI":"10.3390\/ijms25169023","volume":"25","author":"L Guarnera","year":"2024","unstructured":"Guarnera L, D\u2019Addona M, Bravo-Perez C, Visconte V. KMT2A rearrangements in leukemias: molecular aspects and therapeutic perspectives. Int J Mol Sci 2024; 25(16): 9023","journal-title":"Int J Mol Sci"},{"issue":"5","key":"1223_CR7","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1038\/s41375-023-01877-1","volume":"37","author":"C Meyer","year":"2023","unstructured":"Meyer C, Larghero P, Almeida Lopes B, Burmeister T, Gr\u00f6ger D, Sutton R, Venn NC, Cazzaniga G, Corral Abascal L, Tsaur G, Fechina L, Emerenciano M, Pombo-de-Oliveira MS, Lund-Aho T, Lund\u00e1n T, Montonen M, Juvonen V, Zuna J, Trka J, Ballerini P, Lapillonne H, Van der Velden VHJ, Sonneveld E, Delabesse E, de Matos RRC, Silva MLM, Bomken S, Katsibardi K, Keernik M, Grardel N, Mason J, Price R, Kim J, Eckert C, Lo Nigro L, Bueno C, Menendez P, zur Stadt U, Gameiro P, Sed\u00e9k L, Szczepa\u0144ski T, Bidet A, Marcu V, Shichrur K, Izraeli S, Madsen HO, Sch\u00e4fer BW, Kubetzko S, Kim R, Clappier E, Trautmann H, Br\u00fcggemann M, Archer P, Hancock J, Alten J, M\u00f6ricke A, Stanulla M, Lentes J, Bergmann AK, Strehl S, K\u00f6hrer S, Nebral K, Dworzak MN, Haas OA, Arfeuille C, Caye-Eude A, Cav\u00e9 H, Marschalek R. The KMT2A recombinome of acute leukemias in 2023. Leukemia 2023; 37(5): 988\u20131005","journal-title":"Leukemia"},{"issue":"3\u20134","key":"1223_CR8","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1159\/000458165","volume":"150","author":"J Lentes","year":"2016","unstructured":"Lentes J, Thomay K, Schneider DT, Bernbeck B, Reinhardt D, Marschalek R, Meyer C, Schlegelberger B, G\u00f6hring G. Identification of a cryptic insertion ins(11;X)(q23;q28q12) resulting in a KMT2A-FLNA fusion in a 13-month-old child with acute myelomonocytic leukemia. Cytogenet Genome Res 2016; 150(3\u20134): 281\u2013286","journal-title":"Cytogenet Genome Res"},{"issue":"10","key":"1223_CR9","first-page":"1783","volume":"9","author":"MC Bene","year":"1995","unstructured":"Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao A, Van\u2019t Veer MB. Proposals for the immunological classification of acute leukemias. European group for the immunological characterization of leukemias (EGIL). Leukemia 1995; 9(10): 1783\u20131786","journal-title":"Leukemia"},{"issue":"4","key":"1223_CR10","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1111\/j.1365-2141.1976.tb03563.x","volume":"33","author":"JM Bennett","year":"1976","unstructured":"Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DAG, Gralnick HR, Sultan C. Proposals for the classification of the acute leukaemias French-American-British (FAB) Co-operative Group. Br J Haematol 1976; 33(4): 451\u2013458","journal-title":"Br J Haematol"},{"issue":"10","key":"1223_CR11","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1002\/gcc.22646","volume":"57","author":"E Zerkalenkova","year":"2018","unstructured":"Zerkalenkova E, Lebedeva S, Kazakova A, Baryshev P, Meyer C, Marschalek R, Novichkova G, Maschan M, Maschan A, Olshanskaya Y. A case of pediatric acute myeloid leukemia with t(11;16)(q23;q24) leading to a novel KMT2A\u2013USP10 fusion gene. Genes Chromosomes Cancer 2018; 57(10): 522\u2013524","journal-title":"Genes Chromosomes Cancer"},{"issue":"Suppl1","key":"1223_CR12","first-page":"1","volume":"164","author":"RJ Hastings","year":"2024","unstructured":"Hastings RJ, Moore S, Chia N. ISCN 2024: an international system for human cytogenomic nomenclature (2024). Cytogenet Genome Res 2024; 164(Suppl 1): 1\u2013224","journal-title":"Cytogenet Genome Res"},{"key":"1223_CR13","doi-asserted-by":"publisher","first-page":"107018","DOI":"10.1016\/j.leukres.2023.107018","volume":"125","author":"I Demina","year":"2023","unstructured":"Demina I, Zerkalenkova E, Semchenkova A, Volchkov E, Boychenko E, Prudnikova M, Novichkova G, Maschan M, Maschan A, Olshanskaya Y, Popov A. Rare case of pediatric trilineal mixed-phenotype acute leukemia with t(11;19)(q23.3;p13)\/KMT2A::ELL. Leuk Res 2023; 125: 107018","journal-title":"Leuk Res"},{"issue":"2","key":"1223_CR14","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.leukres.2014.11.017","volume":"39","author":"T Burmeister","year":"2015","unstructured":"Burmeister T, Meyer C, Gr\u00f6ger D, Hofmann J, Marschalek R. Evidence-based RT-PCR methods for the detection of the 8 most common MLL aberrations in acute leukemias. Leuk Res 2015; 39(2): 242\u2013247","journal-title":"Leuk Res"},{"issue":"1","key":"1223_CR15","doi-asserted-by":"publisher","first-page":"10","DOI":"10.14806\/ej.17.1.200","volume":"17","author":"M Martin","year":"2011","unstructured":"Martin M. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet J 2011; 17(1): 10\u201312","journal-title":"EMBnet J"},{"issue":"14","key":"1223_CR16","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinformatics 2009; 25(14): 1754\u20131760","journal-title":"Bioinformatics"},{"key":"1223_CR17","unstructured":"Picard Toolkit. Broad Institute, GitHub Repository. 2019"},{"issue":"8","key":"1223_CR18","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/bioinformatics\/btv710","volume":"32","author":"X Chen","year":"2016","unstructured":"Chen X, Schulz-Trieglaff O, Shaw R, Barnes B, Schlesinger F, K\u00e4llberg M, Cox AJ, Kruglyak S, Saunders CT. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 2016; 32(8): 1220\u20131222","journal-title":"Bioinformatics"},{"issue":"1","key":"1223_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A, Flicek P, Cunningham F. The Ensembl variant effect predictor. Genome Biol 2016; 17(1): 1\u201314","journal-title":"Genome Biol"},{"issue":"42","key":"1223_CR20","doi-asserted-by":"publisher","first-page":"26340","DOI":"10.1073\/pnas.2014732117","volume":"117","author":"M Bill","year":"2020","unstructured":"Bill M, Mr\u00f3zek K, Kohlschmidt J, Eisfeld AK, Walker CJ, Nicolet D, Papaioannou D, Blachly JS, Orwick S, Carroll AJ, Kolitz JE, Powell BL, Stone RM, De La Chapelle A, Byrd JC, Bloomfield CD. Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23\/KMT2A. Proc Natl Acad Sci USA 2020; 117(42): 26340\u201326346","journal-title":"Proc Natl Acad Sci USA"},{"issue":"3","key":"1223_CR21","doi-asserted-by":"publisher","first-page":"821","DOI":"10.3390\/biomedicines11030821","volume":"11","author":"M G\u00f3recki","year":"2023","unstructured":"G\u00f3recki M, Kozio\u0142 I, Kopystecka A, Budzy\u0144ska J, Zawitkowska J, Lejman M. Updates in KMT2A gene rearrangement in pediatric acute lymphoblastic leukemia. Biomedicines 2023; 11(3): 821","journal-title":"Biomedicines"},{"issue":"4","key":"1223_CR22","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1038\/ng.3230","volume":"47","author":"AK Andersson","year":"2015","unstructured":"Andersson AK, Ma J, Wang J, Chen X, Gedman AL, Dang J, Nakitandwe J, Holmfeldt L, Parker M, Easton J, Huether R, Kriwacki R, Rusch M, Wu G, Li Y, Mulder H, Raimondi S, Pounds S, Kang G, Shi L, Becksfort J, Gupta P, Payne-Turner D, Vadodaria B, Boggs K, Yergeau D, Manne J, Song G, Edmonson M, Nagahawatte P, Wei L, Cheng C, Pei D, Sutton R, Venn NC, Chetcuti A, Rush A, Catchpoole D, Heldrup J, Fioretos T, Lu C, Ding L, Pui CH, Shurtleff S, Mullighan CG, Mardis ER, Wilson RK, Gruber TA, Zhang J, Downing JR. The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias. Nature Genetics 2015; 47(4): 330\u2013337","journal-title":"Nature Genetics"},{"issue":"12","key":"1223_CR23","doi-asserted-by":"publisher","first-page":"3200","DOI":"10.1182\/bloodadvances.2023011771","volume":"8","author":"RE van Weelderen","year":"2024","unstructured":"van Weelderen RE, Harrison CJ, Klein K, Jiang Y, Abrahamsson J, Alonzo T, Aplenc R, Arad-Cohen N, Bart-Delabesse E, Buldini B, De Moerloose B, Dworzak MN, Elitzur S, Fern\u00e1ndez Navarro JM, Gamis A, Gerbing RB, Goemans BF, de Groot-Kruseman HA, Guest E, Ha SY, Hasle H, Kelaidi C, Lapillonne H, Leverger G, Locatelli F, Miyamura T, Nor\u00e9n-Nystr\u00f6m U, Polychronopoulou S, Rasche M, Rubnitz JE, Stary J, Tierens A, Tomizawa D, Zwaan CM, Kaspers GJL. Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia. Blood Adv 2024; 8(12): 3200\u20133213","journal-title":"Blood Adv"},{"issue":"6","key":"1223_CR24","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1038\/s41375-024-02261-3","volume":"38","author":"C Meyer","year":"2024","unstructured":"Meyer C, Larghero P, Lopes BA, Marschalek R. The KMT2A\/MLL consensus gene structure: a comprehensive update for research and diagnostic implications. Leukemia 2024; 38(6): 1403\u20131406","journal-title":"Leukemia"},{"issue":"2","key":"1223_CR25","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1038\/leu.2017.213","volume":"32","author":"C Meyer","year":"2018","unstructured":"Meyer C, Burmeister T, Gr\u00f6ger D, Tsaur G, Fechina L, Renneville A, Sutton R, Venn NC, Emerenciano M, Pombo-De-Oliveira MS, Barbieri Blunck C Almeida Lopes B, Zuna J, Trka J, Ballerini P, Lapillonne H, De Braekeleer M, Cazzaniga G, Corral Abascal L, Van Der Velden VHJ, Delabesse E, Park TS, Oh SH, Silva MLM, Lund-Aho T, Juvonen V, Moore AS, Heidenreich O, Vormoor J, Zerkalenkova E, Olshanskaya Y, Bueno C, Menendez P, Teigler-Schlegel A, Zur Stadt U, Lentes J, G\u00f6hring G, Kustanovich A, Aleinikova O, Sch\u00e4fer BW, Kubetzko S, Madsen HO, Gruhn B, Duarte X, Gameiro P, Lippert E, Bidet A, Cayuela JM, Clappier E, Alonso CN, Zwaan CM, Van Den Heuvel-Eibrink MM, Izraeli S, Trakhtenbrot L, Archer P, Hancock J, M\u00f6ricke A, Alten J, Schrappe M, Stanulla M, Strehl S, Attarbaschi A, Dworzak M, Haas OA, Panzer-Gr\u00fcmayer R, Sed\u00e9k L, Szczepa\u0144ski T, Caye A, Suarez L, Cav\u00e9 H, Marschalek R. The MLL recombinome of acute leukemias in 2017. Leukemia 2018; 32(2): 273\u2013284","journal-title":"Leukemia"},{"issue":"6","key":"1223_CR26","doi-asserted-by":"publisher","first-page":"100833","DOI":"10.1016\/j.gim.2023.100833","volume":"25","author":"JC Andrews","year":"2023","unstructured":"Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Undiagnosed Diseases Network, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De novo variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med 2023; 25(6): 100833","journal-title":"Genet Med"},{"key":"1223_CR27","doi-asserted-by":"publisher","first-page":"767842","DOI":"10.3389\/fnmol.2021.767842","volume":"14","author":"A Tabuchi","year":"2021","unstructured":"Tabuchi A, Ihara D. Regulation of dendritic synaptic morphology and transcription by the SRF cofactor MKL\/MRTF. Front Mol Neurosci 2021; 14: 767842","journal-title":"Front Mol Neurosci"},{"issue":"12","key":"1223_CR28","doi-asserted-by":"publisher","first-page":"2378","DOI":"10.1038\/jid.2011.219","volume":"131","author":"BJ Crider","year":"2011","unstructured":"Crider BJ, Risinger GM Jr, Haaksma CJ, Howard EW, Tomasek JJ. Myocardin-related transcription factors-A and -B are key regulators of TGF-\u03b21-induced fibroblast to myofibroblast differentiation. J Invest Dermatol 2011; 131(12): 2378\u20132385","journal-title":"J Invest Dermatol"},{"issue":"12","key":"1223_CR29","first-page":"e33187","volume":"14","author":"N Sumransub","year":"2022","unstructured":"Sumransub N, Racila E, Murugan P, O\u2019Brien C, Marette S, Lassig A, Skubitz KM. A novel Tongue-based tumor with an RREB1-MRTFB fusion: variant rhabdomyosarcoma or aggressive variant of ectomesenchymal chondromyxoid tumor. Cureus 2022; 14(12): e33187","journal-title":"Cureus"},{"issue":"17","key":"1223_CR30","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.1093\/hmg\/10.17.1753","volume":"10","author":"WH Lin","year":"2001","unstructured":"Lin WH, Chiu KC, Chang HM, Lee KC, Tai TY, Chuang LM. Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes. Hum Mol Genet 2001; 10(17): 1753\u20131760","journal-title":"Hum Mol Genet"},{"key":"1223_CR31","doi-asserted-by":"publisher","first-page":"106822","DOI":"10.1016\/j.intimp.2020.106822","volume":"87","author":"D Vdovenko","year":"2020","unstructured":"Vdovenko D, Bachmann M, Wijnen WJ, Hottiger MO, Eriksson U, Valaperti A. The adaptor protein c-Cbl-associated protein (CAP) limits pro-inflammatory cytokine expression by inhibiting the NF-\u03baB pathway. Int Immunopharmacol 2020; 87: 106822","journal-title":"Int Immunopharmacol"},{"issue":"1","key":"1223_CR32","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1186\/s12915-024-01850-z","volume":"22","author":"A Veloso","year":"2024","unstructured":"Veloso A, Bleuart A, Conrard L, Orban T, Bruyr J, Cabochette P, Germano RFV, Schevenels G, Bernard A, Zindy E, Demeyer S, Vanhollebeke B, Dequiedt F, Martin M. The cytoskeleton adaptor protein Sorbs1 controls the development of lymphatic and venous vessels in zebrafish. BMC Biol 2024; 22(1): 51","journal-title":"BMC Biol"},{"issue":"10","key":"1223_CR33","doi-asserted-by":"publisher","first-page":"e2970","DOI":"10.1097\/MD.0000000000002970","volume":"95","author":"TJ Chang","year":"2016","unstructured":"Chang TJ, Wang WC, Hsiung CA, He CT, Lin MW, Sheu WHH, Chang YC, Quertermous T, Chen I, Rotter J, Chuang LM. Genetic variation in the human SORBS1 gene is associated with blood pressure regulation and age at onset of hypertension: a sapphire cohort study. Medicine (Baltimore) 2016; 95(10): e2970","journal-title":"Medicine (Baltimore)"},{"issue":"13","key":"1223_CR34","doi-asserted-by":"publisher","first-page":"2585","DOI":"10.1016\/j.molimm.2009.05.006","volume":"46","author":"CM Gon\u00e7alves","year":"2009","unstructured":"Gon\u00e7alves CM, Castro MAA, Henriques T, Oliveira MI, Pinheiro HC, Oliveira C, Sreenu VB, Evans EJ, Davis SJ, Moreira A, Carmo AM. Molecular cloning and analysis of SSc5D, a new member of the scavenger receptor cysteine-rich superfamily. Mol Immunol 2009; 46(13): 2585\u20132596","journal-title":"Mol Immunol"},{"key":"1223_CR35","first-page":"416","volume":"7","author":"CB Pereira","year":"2016","unstructured":"Pereira CB, Bockov\u00e1 M, Santos RF, Santos AM, de Ara\u00fajo MM, Oliveira L, Homola J, Carmo AM. The scavenger receptor SSc5D physically interacts with bacteria through the SRCR-containing N-terminal domain. Front Immunol 2016; 7: 416","journal-title":"Front Immunol"},{"issue":"7","key":"1223_CR36","doi-asserted-by":"publisher","first-page":"1310","DOI":"10.1038\/sj.leu.2404222","volume":"20","author":"A Pession","year":"2006","unstructured":"Pession A, Lo Nigro L, Montemurro L, Serravalle S, Fazzina R, Izzi G, Nucifora G, Slany R, Tonelli R. ArgBP2, encoding a negative regulator of ABL, is fused to MLL in a case of infant M5 acute myeloid leukemia involving 4q35 and 11q23. Leukemia 2006; 20(7): 1310\u20131313","journal-title":"Leukemia"},{"issue":"5","key":"1223_CR37","doi-asserted-by":"publisher","first-page":"e30251","DOI":"10.1002\/pbc.30251","volume":"70","author":"KM Chisholm","year":"2023","unstructured":"Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB. Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: a report from the Children\u2019s Oncology Group. Pediatr Blood Cancer 2023; 70(5): e30251","journal-title":"Pediatr Blood Cancer"},{"issue":"3","key":"1223_CR38","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/90054","volume":"28","author":"Z Ma","year":"2001","unstructured":"Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 2001; 28(3): 220\u2013221","journal-title":"Nat Genet"},{"issue":"23","key":"1223_CR39","doi-asserted-by":"publisher","first-page":"3352","DOI":"10.1038\/sj.onc.1210125","volume":"26","author":"A Gaussmann","year":"2007","unstructured":"Gaussmann A, Wenger T, Eberle I, Bursen A, Bracharz S, Herr I, Dingermann T, Marschalek R. Combined effects of the two reciprocal t(4;11) fusion proteins MLL.AF4 and AF4.MLL confer resistance to apoptosis, cell cycling capacity and growth transformation. Oncogene 2007; 26(23): 3352\u20133363","journal-title":"Oncogene"},{"issue":"10","key":"1223_CR40","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1038\/sj.onc.1209948","volume":"26","author":"S Scharf","year":"2007","unstructured":"Scharf S, Zech J, Bursen A, Schraets D, Oliver PL, Kliem S, Pfitzner E, Gillert E, Dingermann T, Marschalek R. Transcription linked to recombination: a gene-internal promoter coincides with the recombination hot spot II of the human MLL gene. Oncogene 2007; 26(10): 1361\u20131371","journal-title":"Oncogene"},{"issue":"2","key":"1223_CR41","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1016\/j.canlet.2014.06.016","volume":"352","author":"K W\u00e4chter","year":"2014","unstructured":"W\u00e4chter K, Kowarz E, Marschalek R. Functional characterisation of different MLL fusion proteins by using inducible Sleeping Beauty vectors. Cancer Lett 2014; 352(2): 196\u2013202","journal-title":"Cancer Lett"}],"container-title":["MedScience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11684-026-1223-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11684-026-1223-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11684-026-1223-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T06:19:48Z","timestamp":1784269188000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11684-026-1223-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":41,"alternative-id":["1223"],"URL":"https:\/\/doi.org\/10.1007\/s11684-026-1223-1","relation":{},"ISSN":["3091-4973","3091-4981"],"issn-type":[{"value":"3091-4973","type":"print"},{"value":"3091-4981","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]},"assertion":[{"value":"14 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Conflicts of interest\n                      Elena Zerkalenkova, Polina Gezik, Karina Iliasova, Medina Gurzhikhanova, Ruslan Abasov, Olga Soldatkina, Anna Kazakova, Yulia Olshanskaya, A.M. Popov, Irina Kalinina, Alexandr Maschan, Andrey Sudarikov, Tatiana Obukhova, Anastasia Kashlakova, Zalina Fidarova, Elena Parovichnikova, Galina Novichkova, and Michael Maschan declare no conflicts of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethics guidelines"}},{"value":"The study was conducted according to the guidelines of the Declaration of Helsinki, and approved by the Institutional Ethics Committee of Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (protocol code 11\/2018, November 20, 2018). The informed consent for diagnostic workup was signed by patient or patient\u2019s legal guardians upon admission to the hospital.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethics guidelines"}}]}}