{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T15:39:38Z","timestamp":1757777978265,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T00:00:00Z","timestamp":1526428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Shwachman\u2010Diamond syndrome (<jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>) is a rare multi\u2010organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and bone marrow failure (<jats:styled-content style=\"fixed-case\">BMF<\/jats:styled-content>). As in many other <jats:styled-content style=\"fixed-case\">BMF<\/jats:styled-content> syndromes, <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> patients are predisposed to develop a number of haematopoietic malignancies, particularly myelodysplastic syndrome and acute myeloid leukaemia. However, the mechanism of cancer predisposition in <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> patients is only partially understood. In light of the emerging role of mesenchymal stromal cells (<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s) in the regulation of bone marrow homeostasis, we assessed the ability of <jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s derived from <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> patients (<jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s) to recreate a functional bone marrow niche, taking advantage of a murine heterotopic <jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content> transplant model. We show that the ability of semi\u2010cartilaginous pellets (<jats:styled-content style=\"fixed-case\">SCP<\/jats:styled-content>s) derived from <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s to generate complete heterotopic ossicles <jats:italic>in\u00a0vivo<\/jats:italic> is severely impaired in comparison with <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>\u2010derived <jats:styled-content style=\"fixed-case\">SCP<\/jats:styled-content>s. Specifically, after <jats:italic>in\u00a0vitro<\/jats:italic> angiogenic stimuli, <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s showed a defective ability to form correct networks, capillary tubes and vessels and displayed a marked decrease in <jats:italic><jats:styled-content style=\"fixed-case\">VEGFA<\/jats:styled-content><\/jats:italic> expression. Altogether, these findings unveil a novel mechanism of <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\u2010mediated haematopoietic dysfunction based on hampered ability of <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s to support angiogenesis. Overall, <jats:styled-content style=\"fixed-case\">MSC<\/jats:styled-content>s could represent a new appealing therapeutic target to treat dysfunctional haematopoiesis in paediatric <jats:styled-content style=\"fixed-case\">SDS<\/jats:styled-content> patients.<\/jats:p>","DOI":"10.1111\/bjh.15388","type":"journal-article","created":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T11:21:30Z","timestamp":1526469690000},"page":"114-124","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Mesenchymal stromal cells from Shwachman\u2010Diamond syndrome patients fail to recreate a bone marrow niche <i>in\u00a0vivo<\/i> and exhibit impaired angiogenesis"],"prefix":"10.1111","volume":"182","author":[{"given":"Donatella","family":"Bardelli","sequence":"first","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Dander","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Bugarin","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Cappuzzello","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Pievani","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Dulbecco Telethon Institute Centro Ricerca M. Tettamanti University of Milano\u2010Bicocca Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia","family":"Fazio","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Pierani","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haemato\u2010Oncology Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Corti","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Milano\u2010Bicocca San Gerardo Hospital\/Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3412-0399","authenticated-orcid":false,"given":"Piero","family":"Farruggia","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haemato\u2010Oncology ARNAS Ospedali Civico, G Di Cristina Palermo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5980-5474","authenticated-orcid":false,"given":"Carlo","family":"Dufour","sequence":"additional","affiliation":[{"name":"Haematology Unit Giannina Gaslini Children's Research Hospital Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Cesaro","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Paediatric Haematology Oncology Azienda Ospedaliera Universitaria Integrata Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[{"name":"Azienda Ospedaliero Universitaria Ospedali Riuniti Umberto I \u2010 G.M. Lancisi \u2010 G. Salesi Cystic Fibrosis Centre Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Biondi","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"},{"name":"Department of Paediatrics University of Milano\u2010Bicocca San Gerardo Hospital\/Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Paediatric Department Centro Ricerca Tettamanti University of Milano\u2010Bicocca Fondazione MBBM Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.114.5.1059"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/bcj.2012.40"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20478"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.1182\/blood.V94.9.3048","article-title":"Shwachman\u2010Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment","volume":"94","author":"Dror Y.","year":"1999","journal-title":"Blood"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.151.4.879"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.12168"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.623011"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/9467"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S141534"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06069.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5928"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2012.84"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08851"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbf.3155"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)92683-6"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.08.025"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2014.01.006"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/micc.12251"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2016.00020"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/term.2263"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-06794-9"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjh.15388","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.15388","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T11:12:47Z","timestamp":1695381167000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.15388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,16]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1111\/bjh.15388"],"URL":"https:\/\/doi.org\/10.1111\/bjh.15388","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"type":"print","value":"0007-1048"},{"type":"electronic","value":"1365-2141"}],"subject":[],"published":{"date-parts":[[2018,5,16]]},"assertion":[{"value":"2018-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}