{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:04:09Z","timestamp":1789016649919,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:00:00Z","timestamp":1699833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["21147"],"award-info":[{"award-number":["21147"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Multiple myeloma (MM) cells from 1 out of 20 patient expressed high basal levels of membrane B\u2010cell maturation antigen (BCMA, TNFRSF17, CD269), which was not upregulated by gamma\u2010secretase inhibitor, suggesting a defective BCMA shedding by gamma\u2010secretase. Genetic analyses of the patient's bone marrow DNA showed no mutations within the BCMA coding region, but rather partial deletion of <jats:italic>PSEN1<\/jats:italic> and amplification of <jats:italic>PSEN2<\/jats:italic>, which encode alternative catalytic units of gamma\u2010secretase. Altogether the data suggest that pt#12\u2009MM cells express high and dysregulated BCMA with no shedding, due to genetic alterations of one or more gamma\u2010secretase subunits.<\/jats:p>","DOI":"10.1111\/bjh.19168","type":"journal-article","created":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T05:40:13Z","timestamp":1699940413000},"page":"571-575","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic defects of gamma\u2010secretase genes in a multiple myeloma patient with high and dysregulated BCMA surface density: A case report"],"prefix":"10.1111","volume":"204","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5094-7150","authenticated-orcid":false,"given":"Irene","family":"Cattaneo","sequence":"first","affiliation":[{"name":"Center of Cellular Therapy \u201cG. Lanzani\u201d ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rut","family":"Valgardsdottir","sequence":"additional","affiliation":[{"name":"Center of Cellular Therapy \u201cG. Lanzani\u201d ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Cavagna","sequence":"additional","affiliation":[{"name":"Division of Hematology ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orietta","family":"Spinelli","sequence":"additional","affiliation":[{"name":"Division of Hematology ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Bartoletti\u2010Stella","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Capellari","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna Bellaria Hospital  Bologna Italy"},{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Galli","sequence":"additional","affiliation":[{"name":"Division of Hematology ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7932-909X","authenticated-orcid":false,"given":"Jos\u00e9e","family":"Golay","sequence":"additional","affiliation":[{"name":"Center of Cellular Therapy \u201cG. Lanzani\u201d ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8333"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2018.07.015"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2020.05.019"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10521-w"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4523"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm317"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.05.020"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt448"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/35008626"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.008041"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jitc-2022-005403"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh151"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1916645117"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41571-020-0427-6"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11523-017-0538-x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(23)00246-2"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T06:02:50Z","timestamp":1707285770000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,13]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1111\/bjh.19168"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19168","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,13]]},"assertion":[{"value":"2023-07-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}