{"id":"https://openalex.org/W7220443236","doi":"https://doi.org/10.1002/1545-5017.70733","title":"A Biallelic ITGA10 Variant as a Candidate for Inherited Thrombocytopenia: Insights From a Whole\u2010Exome Sequencing Cohort","display_name":"A Biallelic ITGA10 Variant as a Candidate for Inherited Thrombocytopenia: Insights From a Whole\u2010Exome Sequencing Cohort","publication_year":2026,"publication_date":"2026-10-05","ids":{"openalex":"https://openalex.org/W7220443236","doi":"https://doi.org/10.1002/1545-5017.70733","pmid":"https://pubmed.ncbi.nlm.nih.gov/42831702"},"language":"en","primary_location":{"id":"doi:10.1002/1545-5017.70733","doi":"https://doi.org/10.1002/1545-5017.70733","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1545-5017.70733","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1545-5017.70733","source":{"id":"https://openalex.org/S119714264","display_name":"Pediatric Blood & Cancer","issn_l":"1545-5009","issn":["1545-5009","1545-5017"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Blood &amp; Cancer","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1545-5017.70733","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007017371","display_name":"Durdug\u00fcl Ayy\u0131ld\u0131z Emecen","orcid":"https://orcid.org/0000-0003-2272-3456","observed_orcids":["https://orcid.org/0000-0003-2272-3456"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Durdugul Ayyildiz Emecen","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0003-2272-3456","affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037300070","display_name":"Tahir At\u0131k","orcid":"https://orcid.org/0000-0002-1142-3872","observed_orcids":["https://orcid.org/0000-0002-1142-3872"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tahir Atik","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053865808","display_name":"Petek Ballar","orcid":"https://orcid.org/0000-0002-6189-1818","observed_orcids":["https://orcid.org/0000-0002-6189-1818"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Petek Ballar K\u0131rm\u0131z\u0131bayrak","raw_affiliation_strings":["Department of Pharmacy Ege University Faculty of Pharmacy  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-6189-1818","affiliations":[{"raw_affiliation_string":"Department of Pharmacy Ege University Faculty of Pharmacy  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055888190","display_name":"Cumhur G\u00fcnd\u00fcz","orcid":"https://orcid.org/0000-0002-6593-3237","observed_orcids":["https://orcid.org/0000-0002-6593-3237"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Cumhur Gunduz","raw_affiliation_strings":["Department of Medical Biology Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-6593-3237","affiliations":[{"raw_affiliation_string":"Department of Medical Biology Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024815757","display_name":"Esra I\u015f\u0131k","orcid":"https://orcid.org/0000-0003-0657-2408","observed_orcids":["https://orcid.org/0000-0003-0657-2408"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Esra Isik","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0003-0657-2408","affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064260470","display_name":"Enise Avc\u0131 Durmu\u015falio\u011flu","orcid":"https://orcid.org/0000-0002-0582-8881","observed_orcids":["https://orcid.org/0000-0002-0582-8881"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Enise Avci Durmusalioglu","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080638367","display_name":"Deniz Y\u0131lmaz Karap\u0131nar","orcid":"https://orcid.org/0000-0002-1637-4678","observed_orcids":["https://orcid.org/0000-0002-1637-4678"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Deniz Y\u0131lmaz Karapinar","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-1637-4678","affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003229958","display_name":"Mahdi Shekari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Mahdi Shekari","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072468877","display_name":"G\u00f6klem \u00dcner","orcid":"https://orcid.org/0000-0003-4970-4837","observed_orcids":["https://orcid.org/0000-0003-4970-4837"]},"institutions":[{"id":"https://openalex.org/I120217413","display_name":"Izmir Institute of Technology","ror":"https://ror.org/03stptj97","country_code":"TR","type":"education","lineage":["https://openalex.org/I120217413"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Goklem Uner","raw_affiliation_strings":["Department of Bioengineering, Faculty of Engineering Izmir Institute of Technology  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0003-4970-4837","affiliations":[{"raw_affiliation_string":"Department of Bioengineering, Faculty of Engineering Izmir Institute of Technology  Izmir Turkey","institution_ids":["https://openalex.org/I120217413"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5128393931","display_name":"Tiraje Celkan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210121333","display_name":"Istinye University","ror":"https://ror.org/03081nz23","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210121333"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tiraje Celkan","raw_affiliation_strings":["Department of Pediatric Hematology Istinye University Faculty of Medicine  Istanbul Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Istinye University Faculty of Medicine  Istanbul Turkey","institution_ids":["https://openalex.org/I4210121333"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063233351","display_name":"Melike Sezgin Evim","orcid":"https://orcid.org/0000-0002-4792-269X","observed_orcids":["https://orcid.org/0000-0002-4792-269X"]},"institutions":[{"id":"https://openalex.org/I131835042","display_name":"Bursa Uluda\u011f \u00dcni\u0307versi\u0307tesi\u0307","ror":"https://ror.org/03tg3eb07","country_code":"TR","type":"education","lineage":["https://openalex.org/I131835042"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Melike Sezgin Evim","raw_affiliation_strings":["Department of Pediatric Hematology Uluda\u011f University Faculty of Medicine  Bursa Turkey"],"raw_orcid":"https://orcid.org/0000-0002-4792-269X","affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Uluda\u011f University Faculty of Medicine  Bursa Turkey","institution_ids":["https://openalex.org/I131835042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031908718","display_name":"Zeynep Y\u0131ld\u0131z Y\u0131ld\u0131rmak","orcid":"https://orcid.org/0000-0003-3939-2761","observed_orcids":["https://orcid.org/0000-0003-3939-2761","https://orcid.org/0000-0003-2618-2976"]},"institutions":[{"id":"https://openalex.org/I4210157622","display_name":"\u015ei\u015fli Etfal E\u011fitim ve Ara\u015ft\u0131rma Hastanesi","ror":"https://ror.org/05fmwts39","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210157622"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Zeynep Y\u0131ld\u0131z Y\u0131ld\u0131rmak","raw_affiliation_strings":["Department of Pediatric Hematology Health Sciences University Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Health Sciences University Sisli Hamidiye Etfal Training and Research Hospital  Istanbul Turkey","institution_ids":["https://openalex.org/I4210157622"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060355295","display_name":"Veysiye H\u00fclya \u00dczel","orcid":"https://orcid.org/0000-0002-3037-2353","observed_orcids":["https://orcid.org/0000-0002-3037-2353"]},"institutions":[{"id":"https://openalex.org/I123466251","display_name":"Dicle University","ror":"https://ror.org/0257dtg16","country_code":"TR","type":"education","lineage":["https://openalex.org/I123466251"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Veysiye H\u00fclya \u00dczel","raw_affiliation_strings":["Department of Pediatric Hematology Dicle University Faculty of Medicine  Diyarbak\u0131r Turkey"],"raw_orcid":"https://orcid.org/0000-0002-3037-2353","affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Dicle University Faculty of Medicine  Diyarbak\u0131r Turkey","institution_ids":["https://openalex.org/I123466251"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050112920","display_name":"Ye\u015fim Oymak","orcid":"https://orcid.org/0000-0002-6908-8309","observed_orcids":["https://orcid.org/0000-0002-6908-8309"]},"institutions":[{"id":"https://openalex.org/I4210090359","display_name":"Dr. Beh\u00e7et Uz \u00c7ocuk Hastal\u0131klar\u0131 Hastanesi","ror":"https://ror.org/00aff0y51","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210090359"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ye\u015fim Oymak","raw_affiliation_strings":["Department of Pediatric Hematology Dr. Behcet Uz Training and Research Hospital  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-6908-8309","affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Dr. Behcet Uz Training and Research Hospital  Izmir Turkey","institution_ids":["https://openalex.org/I4210090359"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062364404","display_name":"Y\u0131lmaz Ay","orcid":"https://orcid.org/0000-0003-0397-6669","observed_orcids":["https://orcid.org/0000-0003-0397-6669","https://orcid.org/0000-0002-5525-5647"]},"institutions":[{"id":"https://openalex.org/I48843708","display_name":"Pamukkale University","ror":"https://ror.org/01etz1309","country_code":"TR","type":"education","lineage":["https://openalex.org/I48843708"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Y\u0131lmaz Ay","raw_affiliation_strings":["Department of Pediatric Hematology Pamukkale University Faculty of Medicine  Denizli Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Pamukkale University Faculty of Medicine  Denizli Turkey","institution_ids":["https://openalex.org/I48843708"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063357713","display_name":"Ay\u015feg\u00fcl \u00dcn\u00fcvar","orcid":"https://orcid.org/0000-0002-4730-7697","observed_orcids":["https://orcid.org/0000-0002-4730-7697"]},"institutions":[{"id":"https://openalex.org/I67581229","display_name":"Istanbul University","ror":"https://ror.org/03a5qrr21","country_code":"TR","type":"education","lineage":["https://openalex.org/I67581229"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u015feg\u00fcl \u00dcn\u00fcvar","raw_affiliation_strings":["Department of Pediatric Hematology Istanbul University Faculty of Medicine  Istanbul Turkey"],"raw_orcid":"https://orcid.org/0000-0002-4730-7697","affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Istanbul University Faculty of Medicine  Istanbul Turkey","institution_ids":["https://openalex.org/I67581229"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030953316","display_name":"Ay\u00e7a Aslan K\u0131yk\u0131m","orcid":"https://orcid.org/0000-0001-5821-3963","observed_orcids":["https://orcid.org/0000-0001-5821-3963"]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u00e7a K\u0131yk\u0131m","raw_affiliation_strings":["Department of Pediatric Allergy/Immunology Cerrahpasa University Faculty of Medicine  Istanbul Turkey"],"raw_orcid":"https://orcid.org/0000-0001-5821-3963","affiliations":[{"raw_affiliation_string":"Department of Pediatric Allergy/Immunology Cerrahpasa University Faculty of Medicine  Istanbul Turkey","institution_ids":["https://openalex.org/I4210112471"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157638749","display_name":"Ay\u015fe GoncaKa\u00e7ar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210112471","display_name":"Istanbul University-Cerrahpa\u015fa","ror":"https://ror.org/01dzn5f42","country_code":"TR","type":"education","lineage":["https://openalex.org/I4210112471"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ay\u015fe GoncaKa\u00e7ar","raw_affiliation_strings":["Department of Pediatric Hematology Cerrahpasa University Faculty of Medicine  Istanbul Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Hematology Cerrahpasa University Faculty of Medicine  Istanbul Turkey","institution_ids":["https://openalex.org/I4210112471"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061137598","display_name":"Nihal Karada\u015f","orcid":"https://orcid.org/0000-0002-0019-7347","observed_orcids":["https://orcid.org/0000-0002-0019-7347"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Nihal Karada\u015f","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-0019-7347","affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053124932","display_name":"\u00d6zg\u00fcr \u00c7o\u011fulu","orcid":"https://orcid.org/0000-0002-9037-5599","observed_orcids":["https://orcid.org/0000-0002-9037-5599"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"\u00d6zg\u00fcr \u00c7o\u011fulu","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5026707164","display_name":"\u00d6zkinay Ferda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ferda \u00d6zk\u0131nay","raw_affiliation_strings":["Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics Ege University Faculty of Medicine  Izmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5007017371"],"corresponding_institution_ids":["https://openalex.org/I41641357"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"e70733","last_page":"e70733"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10746","display_name":"Platelet Disorders and Treatments","score":1.0,"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":1.0,"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":0.0,"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"}},{"id":"https://openalex.org/T10881","display_name":"Blood Coagulation and Thrombosis Mechanisms","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/inherited-thrombocytopenia","display_name":"inherited thrombocytopenia","score":0.9649999737739563},{"id":"https://openalex.org/keywords/beta1-integrin","display_name":"beta1 integrin","score":0.7839999794960022},{"id":"https://openalex.org/keywords/thrombocytopenia-absent-radius-syndrome","display_name":"thrombocytopenia-absent radius syndrome","score":0.8640000224113464},{"id":"https://openalex.org/keywords/biallelic-mutations","display_name":"biallelic variants","score":0.8059999942779541},{"id":"https://openalex.org/keywords/platelet-disorders","display_name":"platelet disorders","score":0.6100000143051147},{"id":"https://openalex.org/keywords/platelet-cytoskeleton","display_name":"platelet cytoskeleton","score":0.8529999852180481},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.7760000228881836},{"id":"https://openalex.org/keywords/pediatric-thrombocytopenia","display_name":"pediatric thrombocytopenia","score":0.7129999995231628}],"concepts":[{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.7939000129699707},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.6349999904632568},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5936999917030334},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5444999933242798},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5260000228881836},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.45089998841285706},{"id":"https://openalex.org/C104292427","wikidata":"https://www.wikidata.org/wiki/Q899781","display_name":"Protein subunit","level":3,"score":0.4388999938964844},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3815999925136566},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36419999599456787},{"id":"https://openalex.org/C89560881","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet","level":2,"score":0.3529999852180481},{"id":"https://openalex.org/C3018697912","wikidata":"https://www.wikidata.org/wiki/Q179217","display_name":"Platelet activation","level":3,"score":0.3407999873161316},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.3361999988555908},{"id":"https://openalex.org/C195687474","wikidata":"https://www.wikidata.org/wiki/Q409715","display_name":"Integrin","level":3,"score":0.3228999972343445},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.29580000042915344},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.2904999852180481},{"id":"https://openalex.org/C2910090564","wikidata":"https://www.wikidata.org/wiki/Q101026","display_name":"Platelet disorder","level":3,"score":0.2831000089645386},{"id":"https://openalex.org/C146304588","wikidata":"https://www.wikidata.org/wiki/Q961652","display_name":"Case-control study","level":2,"score":0.25949999690055847},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.25839999318122864},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.2556000053882599},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.2538999915122986},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.2535000145435333}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1002/1545-5017.70733","doi":"https://doi.org/10.1002/1545-5017.70733","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1545-5017.70733","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1545-5017.70733","source":{"id":"https://openalex.org/S119714264","display_name":"Pediatric Blood & Cancer","issn_l":"1545-5009","issn":["1545-5009","1545-5017"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Blood &amp; Cancer","raw_type":"journal-article"},{"id":"pmid:42831702","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42831702","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":"Pediatric blood & cancer","raw_type":"Journal Article"},{"id":"pmh:oai:gcris.iyte.edu.tr:11147/20345","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11147/20345","pdf_url":null,"source":{"id":"https://openalex.org/S4377196445","display_name":"IYTE GCRIS Database (Izmir Institute of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I120217413","host_organization_name":"Izmir Institute of Technology","host_organization_lineage":["https://openalex.org/I120217413"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1002/1545-5017.70733","doi":"https://doi.org/10.1002/1545-5017.70733","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1545-5017.70733","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1545-5017.70733","source":{"id":"https://openalex.org/S119714264","display_name":"Pediatric Blood & Cancer","issn_l":"1545-5009","issn":["1545-5009","1545-5017"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Blood &amp; Cancer","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7220443236.pdf","grobid_xml":"https://content.openalex.org/works/W7220443236.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1981152217","https://openalex.org/W1982330320","https://openalex.org/W1989926620","https://openalex.org/W2004478592","https://openalex.org/W2014760758","https://openalex.org/W2042371636","https://openalex.org/W2106117938","https://openalex.org/W2113021936","https://openalex.org/W2192202626","https://openalex.org/W2302332254","https://openalex.org/W2420851545","https://openalex.org/W2463610232","https://openalex.org/W2586178631","https://openalex.org/W2782773254","https://openalex.org/W2801491392","https://openalex.org/W3173570347","https://openalex.org/W4311585879"],"related_works":["https://openalex.org/W2950978700","https://openalex.org/W2947409936","https://openalex.org/W2420851545","https://openalex.org/W2663660835","https://openalex.org/W4411285459","https://openalex.org/W2945992993","https://openalex.org/W3213725674","https://openalex.org/W2897760847","https://openalex.org/W2988199747","https://openalex.org/W3101924955"],"abstract_inverted_index":{"BACKGROUND:":[0],"Inherited":[1],"platelet":[2,15,136,187],"disorders":[3],"(IPDs)":[4],"are":[5],"a":[6,74,83,167],"heterogeneous":[7],"group":[8],"of":[9,70,94,132,178,210],"diseases":[10],"characterized":[11],"by":[12],"thrombocytopenia":[13,29,173],"and/or":[14],"functional":[16,193],"abnormalities.":[17],"This":[18],"study":[19],"aimed":[20],"to":[21,185,201],"identify":[22],"novel":[23,75,168],"candidate":[24,169],"genes":[25,62],"associated":[26,108,156],"with":[27,41,86,109,157],"hereditary":[28],"using":[30],"whole-exome":[31],"sequencing":[32],"(WES).":[33],"METHODS:":[34],"WES":[35],"was":[36],"performed":[37],"in":[38,52,59,65,82,135,212],"40":[39],"patients":[40,67,197],"suspected":[42],"IPDs.":[43],"Functional":[44],"characterization":[45],"included":[46],"segregation":[47],"analysis,":[48],"platelet-based":[49],"immunoblotting,":[50],"and":[51,99,130,141,152,174,189,195,206],"silico":[53,145],"structural":[54,146],"modeling.":[55],"RESULTS:":[56],"Rare":[57],"variants":[58],"known":[60],"IPD-associated":[61],"were":[63],"identified":[64,73],"32":[66],"(80%).":[68],"Reanalysis":[69],"unresolved":[71],"cases":[72],"homozygous":[76],"ITGA10":[77,89,118,165,211],"(NM_003637.5)":[78],"variant":[79],"(c.2248C>T;":[80],"p.Leu750Phe)":[81],"5-year-old":[84],"female":[85],"severe":[87],"thrombocytopenia.":[88,214],"encodes":[90],"the":[91,95,103,158,179,203,208],"\u03b110":[92],"subunit":[93],"\u03b110\u03b21":[96],"integrin":[97,181],"complex":[98,182],"is":[100],"located":[101],"within":[102],"recurrent":[104],"1q21.1":[105],"microdeletion":[106],"region":[107],"thrombocytopenia-absent":[110],"radius":[111],"syndrome.":[112],"Immunoblotting":[113],"studies":[114,194],"demonstrated":[115],"mildly":[116],"reduced":[117,127,149],"expression,":[119,129],"an":[120],"additional":[121,196],"\u223c80":[122],"kDa":[123],"ITGA10-related":[124],"band,":[125],"markedly":[126],"ITGB1":[128,142],"absence":[131],"\u03b2-actin":[133],"expression":[134],"lysates":[137],"despite":[138],"wild-type":[139],"ACTB":[140],"genotypes.":[143],"In":[144],"analysis":[147],"predicted":[148],"protein":[150],"stability":[151],"impaired":[153],"conformational":[154],"flexibility":[155],"p.Leu750Phe":[159],"substitution.":[160],"CONCLUSIONS:":[161],"These":[162],"findings":[163],"support":[164],"as":[166],"gene":[170],"for":[171],"inherited":[172,213],"suggest":[175],"that":[176],"disruption":[177],"ITGA10-ITGB1":[180],"may":[183],"contribute":[184],"abnormal":[186],"homeostasis":[188],"cytoskeletal":[190],"organization.":[191],"Further":[192],"will":[198],"be":[199],"important":[200],"clarify":[202],"biological":[204],"mechanisms":[205],"establish":[207],"role":[209]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-10-06T00:00:00"}
