{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T04:09:38Z","timestamp":1786334978917,"version":"build-2736575974"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"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":[[2022,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Constitutional thrombocytopenias are rare disorders, often difficult to discriminate from acquired thrombocytopenias. More than 80 genes have been described as being at the origin of these diseases. Among them, several variants of the glycoprotein Ib platelet subunit alpha (<jats:italic>GP1BA<\/jats:italic>) and glycoprotein Ib platelet subunit beta (<jats:italic>GP1BB<\/jats:italic>) genes, coding for the GpIb\u2010IX\u2010V glycoprotein complex, have been reported in the literature. The study reported here aimed at describing newly identified monoallelic anomalies affecting the <jats:italic>GP1BA<\/jats:italic> and <jats:italic>GP1BB<\/jats:italic> genes on a clinical, biological and molecular level. In a cohort of nine patients with macrothrombocytopenia, eight heterozygous variants of the <jats:italic>GP1BA<\/jats:italic> or <jats:italic>GP1BB<\/jats:italic> genes were identified. Five of them had never been described in the heterozygous state. Computer modelling disclosed structure\/function relationships of these five variants.<\/jats:p>","DOI":"10.1111\/bjh.18462","type":"journal-article","created":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T10:50:05Z","timestamp":1664448605000},"page":"744-753","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha <scp>(<i>GP1BA<\/i>)<\/scp> and glycoprotein Ib platelet subunit beta (<scp><i>GP1BB<\/i>)<\/scp> genes responsible for constitutional thrombocytopenia"],"prefix":"10.1111","volume":"199","author":[{"given":"Fatema","family":"Dib","sequence":"first","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Qu\u00e9m\u00e9ner","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, Inserm UMR 1307, CNRS UMR 6075 Universit\u00e9 d\u2019Angers, CRCI2NA  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Bayart","sequence":"additional","affiliation":[{"name":"CRC\u2010MH, CHU de Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Boisseau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9284-7094","authenticated-orcid":false,"given":"Antoine","family":"Babuty","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Trossa\u00ebrt","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Sigaud","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ternisien","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6500-5190","authenticated-orcid":false,"given":"Nicolas","family":"Drillaud","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7206-5135","authenticated-orcid":false,"given":"Marion","family":"Eveillard","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"Nantes Universit\u00e9, Inserm UMR 1307, CNRS UMR 6075 Universit\u00e9 d\u2019Angers, CRCI2NA  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Guillet","sequence":"additional","affiliation":[{"name":"CRC\u2010MH, CHU de Rennes  Rennes France"},{"name":"Univ Rennes, CHU Rennes, Inserm, EHESP Irset (Institut de recherche en sant\u00e9, environnement et travail) \u2010 UMR_S 1085  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6569-7414","authenticated-orcid":false,"given":"Marie C.","family":"B\u00e9n\u00e9","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"Nantes Universit\u00e9, Inserm UMR 1307, CNRS UMR 6075 Universit\u00e9 d\u2019Angers, CRCI2NA  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0964-0739","authenticated-orcid":false,"given":"Marc","family":"Fouassier","sequence":"additional","affiliation":[{"name":"Service d\u2019H\u00e9matologie Biologique, CHU de Nantes  Nantes France"},{"name":"CRC\u2010MH, CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"3217","article-title":"Sur Une nouvelle vari\u00e9t\u00e9 de dystrophie thrombocytaire h\u00e9mo\u0157ragipare cong\u00e9nitale [on a new variety of congenital thrombocytary hemoragiparous dystrophy]","volume":"24","author":"Bernard J","year":"1948","journal-title":"Sem Hop"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.039883"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-46"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.5.1330"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12830"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2005.00612.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V79.2.439.439"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.050682"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14986"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0000000000000530"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2018.1529300"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2018891192"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23020885"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2021.9791"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.15479"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005463"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2021.1909716"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17090"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10000"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-08-732248"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15739"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1616058"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15176"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201304054"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00062752-199704050-00005"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1309\/FC4H-LM5V-VCW8-DNJU"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04132_1.x"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14357"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.7.2404"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M205271200"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22607"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0b013e32835187e2"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms221910190"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.15035"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537100902893784"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-015-2473-1"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.107355"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M401659200"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.08.036"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3580295"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12144"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14684"},{"issue":"5","key":"e_1_2_8_44_1","first-page":"451","article-title":"Immature platelet fraction: establishment of a reference interval and diagnostic measure for thrombocytopenia","volume":"30","author":"Jung H","year":"2010","journal-title":"Korean J Lab Med"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2005.09.007"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1179\/1607845415Y.0000000021"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-021-04651-4"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2020.08.008"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17409"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.18462","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bjh.18462","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.18462","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T20:30:32Z","timestamp":1692563432000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.18462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,29]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1111\/bjh.18462"],"URL":"https:\/\/doi.org\/10.1111\/bjh.18462","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,29]]},"assertion":[{"value":"2022-03-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}