{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T04:51:25Z","timestamp":1761540685132},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,1,23]],"date-time":"2006-01-23T00:00:00Z","timestamp":1137974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Recent studies have shown that heterozygous carriers of the bleeding disorder Bernard\u2010Soulier syndrome are occasionally identified as isolated case of giant platelet disorder\/macrothrombocytopenia or misdiagnosed with idiopathic thrombocytopenic purpura (ITP). We describe here a patient with congenital macrothrombocytopenia who had been diagnosed with ITP. On peripheral blood smears, platelet diameter was \u223c30% larger than normal controls. In the patient's platelets, the expression level of the GPIbIX complex was slightly decreased (70\u201380% of normal control). Densitometric analysis of immunoblots showed GPIb<jats:italic>\u03b1<\/jats:italic> to be \u223c52% of normal. DNA sequencing analysis revealed a novel heterozygous missense mutation in the GPIb<jats:italic>\u03b1<\/jats:italic> gene that converts Tyr to Asp at residue 54 (Y54D) in the second leucine\u2010rich repeat. Mutant GPIb<jats:italic>\u03b1<\/jats:italic> protein was not detected in the patient's platelets. Transient transfection studies demonstrated that mutant GPIb<jats:italic>\u03b1<\/jats:italic> affects complex expression. These findings suggest that null expression of the mutant GPIb<jats:italic>\u03b1<\/jats:italic> causes decreased density of the complex and results in macrothrombocytopenia.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2005.00612.x","type":"journal-article","created":{"date-parts":[[2006,1,23]],"date-time":"2006-01-23T16:20:04Z","timestamp":1138033204000},"page":"348-355","source":"Crossref","is-referenced-by-count":27,"title":["Novel heterozygous missense mutation in the second leucine rich repeat of GPIb<i>\u03b1<\/i> affects GPIb\/IX\/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura"],"prefix":"10.1111","volume":"76","author":[{"given":"Shinji","family":"Kunishima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshi","family":"Imai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motohiro","family":"Hamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidehiko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,23]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-835672"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-05-1742"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01428.x"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2005.08.001"},{"key":"e_1_2_6_6_2","first-page":"3217","article-title":"Sur une nouvelle variete de dystrophie thrombocytaire\u2010hemorragipare congenitale","volume":"24","author":"Bernard J","year":"1948","journal-title":"Seminaires des Hopitaux de Paris"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.12.4397"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02982690"},{"key":"e_1_2_6_9_2","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1182\/blood.V89.7.2404","article-title":"Missense mutations of the glycoprotein (GP) Ib\u03b2 gene impairing the GPIb \u03b1\/\u03b2 disulfide linkage in a family with giant platelet disorder","volume":"89","author":"Kunishima S","year":"1997","journal-title":"Blood"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10000"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.5.1330"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.LAB.0000050960.48774.17"},{"key":"e_1_2_6_13_2","doi-asserted-by":"crossref","first-page":"3356","DOI":"10.1182\/blood.V84.10.3356.3356","article-title":"Bernard\u2010Soulier syndrome Kagoshima: Ser 444\u2013>stop mutation of glycoprotein (GP) Ib\u03b1 resulting in circulating truncated GPIb\u03b1 and surface expression of GPIb\u03b2 and GPIX","volume":"84","author":"Kunishima S","year":"1994","journal-title":"Blood"},{"key":"e_1_2_6_14_2","first-page":"914","article-title":"Monoclonal antibodies reactive to human platelets: analysis of their specificities, detected antigen molecules, and their effects on platelet function","volume":"50","author":"Furukawa K","year":"1987","journal-title":"Acta Haematol Jpn"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1159\/000089480"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.10.2785"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115596"},{"key":"e_1_2_6_18_2","doi-asserted-by":"crossref","first-page":"10055","DOI":"10.1016\/S0021-9258(19)50199-5","article-title":"Polymorphism of human glycoprotein Ib\u03b1 results from a variable number of tandem repeats of a 13\u2010amino acid sequence in the mucin\u2010like macroglycopeptide region. 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