{"id":"https://openalex.org/W2575650731","doi":"https://doi.org/10.1160/th16-07-0515","title":"Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B","display_name":"Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B","publication_year":2017,"publication_date":"2017-01-01","ids":{"openalex":"https://openalex.org/W2575650731","doi":"https://doi.org/10.1160/th16-07-0515","mag":"2575650731","pmid":"https://pubmed.ncbi.nlm.nih.gov/28078347"},"language":"en","primary_location":{"id":"doi:10.1160/th16-07-0515","doi":"https://doi.org/10.1160/th16-07-0515","is_oa":false,"landing_page_url":"https://doi.org/10.1160/th16-07-0515","pdf_url":null,"source":{"id":"https://openalex.org/S206235894","display_name":"Thrombosis and Haemostasis","issn_l":"0340-6245","issn":["0340-6245","2567-689X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thrombosis and Haemostasis","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035734503","display_name":"Stefan Loroch","orcid":"https://orcid.org/0000-0002-7758-0301","observed_orcids":["https://orcid.org/0000-0002-7758-0301"]},"institutions":[{"id":"https://openalex.org/I4210121365","display_name":"Leibniz Institute for Analytical Sciences - ISAS","ror":"https://ror.org/02jhqqg57","country_code":"DE","type":"facility","lineage":["https://openalex.org/I315704651","https://openalex.org/I4210121365"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stefan Loroch","raw_affiliation_strings":["Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany","institution_ids":["https://openalex.org/I4210121365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084046175","display_name":"Katharina Trabold","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Katharina Trabold","raw_affiliation_strings":["Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071949659","display_name":"Stepan P. Gambaryan","orcid":"https://orcid.org/0000-0002-1470-0791","observed_orcids":["https://orcid.org/0000-0002-1470-0791"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I163234304","display_name":"Institute of Evolutionary Physiology and Biochemistry","ror":"https://ror.org/02vf4sk45","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I163234304","https://openalex.org/I4210115279"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE","RU"],"is_corresponding":false,"raw_author_name":"Stepan Gambaryan","raw_affiliation_strings":["Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","Sechenov Institute of Evolutionary Physiology and Biochemistry, Russian Academy of Sciences, S. Petersburg, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]},{"raw_affiliation_string":"Sechenov Institute of Evolutionary Physiology and Biochemistry, Russian Academy of Sciences, S. Petersburg, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I163234304"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010277879","display_name":"Cora Rei\u00df","orcid":"https://orcid.org/0000-0002-4209-6886","observed_orcids":["https://orcid.org/0000-0002-4209-6886"]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Cora Rei\u00df","raw_affiliation_strings":["Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006746542","display_name":"Kathrin Schwierczek","orcid":"https://orcid.org/0000-0002-5435-6382","observed_orcids":["https://orcid.org/0000-0002-5435-6382"]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Kathrin Schwierczek","raw_affiliation_strings":["Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091173895","display_name":"Ingrid Fleming","orcid":"https://orcid.org/0000-0003-1881-3635","observed_orcids":["https://orcid.org/0000-0003-1881-3635"]},"institutions":[{"id":"https://openalex.org/I114090438","display_name":"Goethe University Frankfurt","ror":"https://ror.org/04cvxnb49","country_code":"DE","type":"education","lineage":["https://openalex.org/I114090438"]},{"id":"https://openalex.org/I4210127591","display_name":"German Centre for Cardiovascular Research","ror":"https://ror.org/031t5w623","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210127591","https://openalex.org/I4405256427"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ingrid Fleming","raw_affiliation_strings":["German Centre for Cardiovascular Research (DZHK), RheinMain, Germany","Institute for Vascular Signalling, Centre for Molecular Medicine, Goethe-University, Frankfurt, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"German Centre for Cardiovascular Research (DZHK), RheinMain, Germany","institution_ids":["https://openalex.org/I4210127591"]},{"raw_affiliation_string":"Institute for Vascular Signalling, Centre for Molecular Medicine, Goethe-University, Frankfurt, Germany","institution_ids":["https://openalex.org/I114090438"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023752156","display_name":"Albert Sickmann","orcid":"https://orcid.org/0000-0002-2388-5265","observed_orcids":["https://orcid.org/0000-0002-2388-5265"]},"institutions":[{"id":"https://openalex.org/I195460627","display_name":"University of Aberdeen","ror":"https://ror.org/016476m91","country_code":"GB","type":"education","lineage":["https://openalex.org/I195460627"]},{"id":"https://openalex.org/I4210121365","display_name":"Leibniz Institute for Analytical Sciences - ISAS","ror":"https://ror.org/02jhqqg57","country_code":"DE","type":"facility","lineage":["https://openalex.org/I315704651","https://openalex.org/I4210121365"]},{"id":"https://openalex.org/I904495901","display_name":"Ruhr University Bochum","ror":"https://ror.org/04tsk2644","country_code":"DE","type":"education","lineage":["https://openalex.org/I904495901"]}],"countries":["DE","GB"],"is_corresponding":false,"raw_author_name":"Albert Sickmann","raw_affiliation_strings":["Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, UK","Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany","Medizinisches Proteom Center, Medizin-ische Fakult\u00e4t, Ruhr Universit\u00e4t Bochum, Bochum, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, College of Physical Sciences, University of Aberdeen, Aberdeen, UK","institution_ids":["https://openalex.org/I195460627"]},{"raw_affiliation_string":"Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany","institution_ids":["https://openalex.org/I4210121365"]},{"raw_affiliation_string":"Medizinisches Proteom Center, Medizin-ische Fakult\u00e4t, Ruhr Universit\u00e4t Bochum, Bochum, Germany","institution_ids":["https://openalex.org/I904495901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055374270","display_name":"Wolfgang Behnisch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802164966","display_name":"University Hospital Heidelberg","ror":"https://ror.org/013czdx64","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2802164966"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Wolfgang Behnisch","raw_affiliation_strings":["Department of Pediatric Oncology, Hematology, Immunology and Pulmonology, University Medical Center, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Oncology, Hematology, Immunology and Pulmonology, University Medical Center, Heidelberg, Germany","institution_ids":["https://openalex.org/I2802164966"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017359318","display_name":"Barbara Zieger","orcid":"https://orcid.org/0000-0002-4954-7029","observed_orcids":["https://orcid.org/0000-0002-4954-7029"]},"institutions":[{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]},{"id":"https://openalex.org/I2801240073","display_name":"University Medical Center Freiburg","ror":"https://ror.org/03vzbgh69","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2801240073"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Barbara Zieger","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center \u2013 Faculty of Medicine, University of Freiburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center \u2013 Faculty of Medicine, University of Freiburg, Germany","institution_ids":["https://openalex.org/I161046081","https://openalex.org/I2801240073"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034079462","display_name":"Ren\u00e9 Peiman Zahedi","orcid":"https://orcid.org/0000-0002-4960-5460","observed_orcids":["https://orcid.org/0000-0002-4960-5460"]},"institutions":[{"id":"https://openalex.org/I4210121365","display_name":"Leibniz Institute for Analytical Sciences - ISAS","ror":"https://ror.org/02jhqqg57","country_code":"DE","type":"facility","lineage":["https://openalex.org/I315704651","https://openalex.org/I4210121365"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ren\u00e9 P. Zahedi","raw_affiliation_strings":["Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e. V., Dortmund, Germany","institution_ids":["https://openalex.org/I4210121365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072719814","display_name":"Ulrich Walter","orcid":"https://orcid.org/0000-0001-6784-2307","observed_orcids":["https://orcid.org/0000-0001-6784-2307"]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]},{"id":"https://openalex.org/I4210127591","display_name":"German Centre for Cardiovascular Research","ror":"https://ror.org/031t5w623","country_code":"DE","type":"facility","lineage":["https://openalex.org/I4210127591","https://openalex.org/I4405256427"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ulrich Walter","raw_affiliation_strings":["Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","German Centre for Cardiovascular Research (DZHK), RheinMain, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]},{"raw_affiliation_string":"German Centre for Cardiovascular Research (DZHK), RheinMain, Germany","institution_ids":["https://openalex.org/I4210127591"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086436604","display_name":"Kerstin Jurk","orcid":"https://orcid.org/0000-0001-5313-4035","observed_orcids":["https://orcid.org/0000-0001-5313-4035"]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Kerstin Jurk","raw_affiliation_strings":["Kerstin Jurk, Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Langenbeckstr. 1, 55131 Mainz, Germany, Tel.: +49 6131 178278, Fax: +49 6131 176238, E-mail: kerstin.jurk@unimedizin-mainz.de"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kerstin Jurk, Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Langenbeckstr. 1, 55131 Mainz, Germany, Tel.: +49 6131 178278, Fax: +49 6131 176238, E-mail: kerstin.jurk@unimedizin-mainz.de","institution_ids":["https://openalex.org/I4210094062"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5086436604"],"corresponding_institution_ids":["https://openalex.org/I4210094062"],"apc_list":null,"apc_paid":null,"fwci":2.8914,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.912339,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"117","issue":"03","first_page":"556","last_page":"569"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10831","display_name":"Cell Adhesion Molecules Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2723","display_name":"Immunology and Allergy"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/glanzmann-thrombasthenia","display_name":"Glanzmann thrombasthenia","score":0.9279999732971191},{"id":"https://openalex.org/keywords/platelet-proteome","display_name":"platelet proteome","score":0.9340000152587891},{"id":"https://openalex.org/keywords/itga2b","display_name":"ITGA2B","score":0.8650000095367432},{"id":"https://openalex.org/keywords/integrin-alphaiib","display_name":"integrin alphaIIb","score":0.7519999742507935},{"id":"https://openalex.org/keywords/fibrinogen","display_name":"fibrinogen","score":0.7900000214576721},{"id":"https://openalex.org/keywords/platelet-granule-secretion","display_name":"platelet granule secretion","score":0.8159999847412109},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.7149999737739563},{"id":"https://openalex.org/keywords/fcgammariia","display_name":"Fc\u03b3RIIa","score":0.8379999995231628},{"id":"https://openalex.org/keywords/laminin-alpha4","display_name":"laminin \u03b14","score":0.8799999952316284},{"id":"https://openalex.org/keywords/cd63","display_name":"CD63","score":0.9769999980926514},{"id":"https://openalex.org/keywords/plasminogen","display_name":"plasminogen","score":0.7850000262260437},{"id":"https://openalex.org/keywords/platelet-activation","display_name":"platelet activation","score":0.5849999785423279}],"concepts":[{"id":"https://openalex.org/C89560881","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet","level":2,"score":0.8980262279510498},{"id":"https://openalex.org/C2911156200","wikidata":"https://www.wikidata.org/wiki/Q1529258","display_name":"Thrombasthenia","level":4,"score":0.7786300778388977},{"id":"https://openalex.org/C2778198917","wikidata":"https://www.wikidata.org/wiki/Q1529258","display_name":"Glanzmann's thrombasthenia","level":5,"score":0.6436786651611328},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48087480664253235},{"id":"https://openalex.org/C167814343","wikidata":"https://www.wikidata.org/wiki/Q419341","display_name":"Thrombospondin","level":4,"score":0.4585198760032654},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4339732825756073},{"id":"https://openalex.org/C104397665","wikidata":"https://www.wikidata.org/wiki/Q860947","display_name":"Proteome","level":2,"score":0.420280784368515},{"id":"https://openalex.org/C26828662","wikidata":"https://www.wikidata.org/wiki/Q7202248","display_name":"Platelet membrane glycoprotein","level":3,"score":0.4190737009048462},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.36197441816329956},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28037023544311523},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.19137755036354065},{"id":"https://openalex.org/C109523444","wikidata":"https://www.wikidata.org/wiki/Q424216","display_name":"Matrix metalloproteinase","level":2,"score":0.0},{"id":"https://openalex.org/C55728118","wikidata":"https://www.wikidata.org/wiki/Q425402","display_name":"Metalloproteinase","level":3,"score":0.0},{"id":"https://openalex.org/C2993802102","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet aggregation","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001792","descriptor_name":"Blood Platelets","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D001798","descriptor_name":"Blood Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002851","descriptor_name":"Chromatography, High Pressure Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010979","descriptor_name":"Platelet Function Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013058","descriptor_name":"Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013915","descriptor_name":"Thrombasthenia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D013915","descriptor_name":"Thrombasthenia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D013915","descriptor_name":"Thrombasthenia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020543","descriptor_name":"Proteome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D039421","descriptor_name":"Integrin alpha2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D040901","descriptor_name":"Proteomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1160/th16-07-0515","doi":"https://doi.org/10.1160/th16-07-0515","is_oa":false,"landing_page_url":"https://doi.org/10.1160/th16-07-0515","pdf_url":null,"source":{"id":"https://openalex.org/S206235894","display_name":"Thrombosis and Haemostasis","issn_l":"0340-6245","issn":["0340-6245","2567-689X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thrombosis and Haemostasis","raw_type":"journal-article"},{"id":"pmid:28078347","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28078347","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thrombosis and haemostasis","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":53,"referenced_works":["https://openalex.org/W39893895","https://openalex.org/W216931071","https://openalex.org/W226237940","https://openalex.org/W232856255","https://openalex.org/W251259862","https://openalex.org/W1500447113","https://openalex.org/W1505789768","https://openalex.org/W1537286163","https://openalex.org/W1538294606","https://openalex.org/W1602182436","https://openalex.org/W1604870150","https://openalex.org/W1636745306","https://openalex.org/W1785730200","https://openalex.org/W1936995585","https://openalex.org/W1967614322","https://openalex.org/W1970006317","https://openalex.org/W1971124929","https://openalex.org/W1977357216","https://openalex.org/W1979888290","https://openalex.org/W1985330271","https://openalex.org/W1995246972","https://openalex.org/W1996992222","https://openalex.org/W1998192298","https://openalex.org/W2010637708","https://openalex.org/W2018516157","https://openalex.org/W2026412828","https://openalex.org/W2029849110","https://openalex.org/W2031077989","https://openalex.org/W2037342129","https://openalex.org/W2054540030","https://openalex.org/W2054850919","https://openalex.org/W2056355602","https://openalex.org/W2066991374","https://openalex.org/W2075363343","https://openalex.org/W2080617195","https://openalex.org/W2083430626","https://openalex.org/W2093612398","https://openalex.org/W2097092756","https://openalex.org/W2098590236","https://openalex.org/W2110845022","https://openalex.org/W2112064946","https://openalex.org/W2117026182","https://openalex.org/W2150863144","https://openalex.org/W2152723000","https://openalex.org/W2154204456","https://openalex.org/W2169449981","https://openalex.org/W2254688753","https://openalex.org/W2263759574","https://openalex.org/W2345436650","https://openalex.org/W2397073784","https://openalex.org/W2401610472","https://openalex.org/W2508432438","https://openalex.org/W4248176343"],"related_works":["https://openalex.org/W7149882855","https://openalex.org/W4409429823","https://openalex.org/W2921619902","https://openalex.org/W2091719532","https://openalex.org/W2577997846","https://openalex.org/W2327525419","https://openalex.org/W2767462869","https://openalex.org/W7042473164","https://openalex.org/W1975429533","https://openalex.org/W132852222"],"abstract_inverted_index":{"Summary":[0],"Glanzmann":[1],"thrombasthenia":[2],"(GT)":[3],"is":[4,236,258],"one":[5,216],"of":[6,31,55,94,110,128,134,175,197,204,224,250],"the":[7,27,95],"best":[8],"characterised":[9],"inherited":[10],"platelet":[11,16,112,116,144,205,225],"function":[12,30,71],"disorders":[13],"but":[14,114,241],"global":[15,53],"proteome":[17,28,54],"has":[18],"not":[19],"been":[20],"determined":[21],"in":[22,185,215,227],"these":[23],"patients.":[24,172],"We":[25,229],"investigated":[26],"and":[29,49,67,80,99,159,168,180,199],"platelets":[32,59,164,169,190],"from":[33,46,84,124,165,170],"two":[34],"patients":[35,86,107],"with":[36,209],"type":[37,147],"I":[38,148],"GT,":[39],"caused":[40],"by":[41,62,74,120],"different":[42],"homozygous":[43],"ITGA2b":[44],"mutations,":[45],"family":[47,126],"members":[48,127],"unrelated":[50],"controls.":[51,105],"The":[52],"highly":[56],"purified":[57],"washed":[58],"was":[60,72,207],"quantified":[61],"liquid":[63],"chromatography-mass":[64],"spectrometry":[65],"(LC-MS)":[66],"targeted":[68],"MS-methods.":[69],"Platelet":[70],"analysed":[73],"flow":[75],"cytometry,":[76],"light":[77],"transmission":[78],"aggregometry":[79],"flow-based":[81],"as-says.":[82],"Platelets":[83,123],"GT":[85,149,166,171,189],"showed":[87,191],"less":[88],"than":[89],"5":[90],"%":[91,101,133],"relative":[92],"levels":[93,137,174,196,203],"integrin":[96],"subunit":[97],"\u03b1IIb":[98,136],"5\u20139":[100],"fibrinogen":[102],"compared":[103],"to":[104,157,193,238,243,255],"These":[106],"demonstrated":[108],"loss":[109],"\u03b1IIb\u03b23-dependent":[111,143],"function,":[113],"normal":[115,142,162],"granule":[117],"secretion":[118],"induced":[119],"physiological":[121],"agonists.":[122],"heterozygous":[125],"a":[129,221],"patient":[130],"expressed":[131],"50\u201360":[132],"control":[135],"which":[138,218],"were":[139,183],"sufficient":[140],"for":[141],"function.":[145],"Studying":[146],"as":[150],"model":[151],"disease":[152],"we":[153],"established":[154],"quantitative":[155,232],"LC-MS":[156,233],"detect":[158],"clearly":[160],"distinguish":[161],"platelets,":[163],"heterozygotes":[167],"Diminished":[173],"factor":[176],"XIIIB":[177],"chain,":[178],"plasminogen":[179],"carboxypeptidase":[181],"2B":[182],"identified":[184],"thrombasthenic":[186],"platelets.":[187,252],"Additionally,":[188],"up":[192],"2.5-fold":[194],"increased":[195,210],"Fc\u03b3RIIA":[198,206],"laminin-\u03b14":[200],"chain.":[201],"Elevated":[202],"associated":[208],"CD63-surface":[211],"expression":[212],"after":[213],"Fc\u03b3RIIA-crosslinking":[214],"GT-patient":[217],"might":[219],"present":[220],"compensatory":[222],"mechanism":[223],"activation":[226],"GT.":[228],"demonstrate":[230],"that":[231],"based":[234],"proteomics":[235],"suitable":[237],"validate":[239],"known":[240],"also":[242],"identify":[244],"previously":[245],"unknown":[246],"protein":[247],"level":[248],"changes":[249],"dysfunctional":[251],"Supplementary":[253],"Material":[254],"this":[256],"article":[257],"available":[259],"online":[260],"at":[261],"www.thrombosis-online.com.":[262]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2017-01-26T00:00:00"}