Publication Information

{'id': 'https://openalex.org/W4310258982', 'doi': 'https://doi.org/10.1111/ped.15428', 'title': '<scp><i>KARS</i></scp>‐related diseases with macrothrombocytes and pulmonary arterial hypertension', 'display_name': '<scp><i>KARS</i></scp>‐related diseases with macrothrombocytes and pulmonary arterial hypertension', 'publication_year': 2022, 'publication_date': '2022-11-29', 'ids': {'openalex': 'https://openalex.org/W4310258982', 'doi': 'https://doi.org/10.1111/ped.15428', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/36445004'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/ped.15428', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S113298455', 'display_name': 'Pediatrics International', 'issn_l': '1328-8067', 'issn': ['1328-8067', '1442-200X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5075953810', 'display_name': 'Mako Kimura Wada', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Mako Kimura Wada', 'raw_affiliation_strings': ['Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan'], 'affiliations': [{'raw_affiliation_string': 'Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065483329', 'display_name': 'Yasuyuki Fukuhara', 'orcid': 'https://orcid.org/0000-0002-4081-6739'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Yasuyuki Fukuhara', 'raw_affiliation_strings': ['Division of Clinical Genetics and Molecular Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Clinical Genetics and Molecular Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5036102585', 'display_name': 'Itaru Hayakawa', 'orcid': 'https://orcid.org/0000-0002-6384-0205'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Itaru Hayakawa', 'raw_affiliation_strings': ['Division of Neurology National Center for Child Health and Development (NCCHD) Tokyo Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Neurology National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5037607207', 'display_name': 'Tadashi Kaname', 'orcid': 'https://orcid.org/0000-0003-0281-9610'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Tadashi Kaname', 'raw_affiliation_strings': ['Department of Genome Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Genome Medicine National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5013169655', 'display_name': 'Akira Ishiguro', 'orcid': 'https://orcid.org/0000-0002-3896-5313'}, 'institutions': [{'id': 'https://openalex.org/I4210132193', 'display_name': 'National Center For Child Health and Development', 'ror': 'https://ror.org/03fvwxc59', 'country_code': 'JP', 'type': 'government', 'lineage': ['https://openalex.org/I4210132193']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Akira Ishiguro', 'raw_affiliation_strings': ['Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan', 'Division of Hematology National Center for Child Health and Development (NCCHD) Tokyo Japan'], 'affiliations': [{'raw_affiliation_string': 'Division of Hematology National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}, {'raw_affiliation_string': 'Center for Postgraduate Education and Training National Center for Child Health and Development (NCCHD) Tokyo Japan', 'institution_ids': ['https://openalex.org/I4210132193']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 2700, 'currency': 'USD', 'value_usd': 2700, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.24, 'has_fulltext': False, 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.473998, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 60, 'max': 70}, 'biblio': {'volume': '65', 'issue': '1', 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10831', 'display_name': 'Cell Adhesion Molecules Research', 'score': 0.9982, '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'}}, 'topics': [{'id': 'https://openalex.org/T10831', 'display_name': 'Cell Adhesion Molecules Research', 'score': 0.9982, '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/T10746', 'display_name': 'Platelet Disorders and Treatments', 'score': 0.9929, '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/T11346', 'display_name': 'Mast cells and histamine', 'score': 0.988, 'subfield': {'id': 'https://openalex.org/subfields/2403', 'display_name': 'Immunology'}, 'field': {'id': 'https://openalex.org/fields/24', 'display_name': 'Immunology and Microbiology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/table', 'display_name': 'Table (database)', 'score': 0.71601}], 'concepts': [{'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.9352176}, {'id': 'https://openalex.org/C45235069', 'wikidata': 'https://www.wikidata.org/wiki/Q278425', 'display_name': 'Table (database)', 'level': 2, 'score': 0.71601}, {'id': 'https://openalex.org/C2780930700', 'wikidata': 'https://www.wikidata.org/wiki/Q1128595', 'display_name': 'Pulmonary hypertension', 'level': 2, 'score': 0.43331254}, {'id': 'https://openalex.org/C126322002', 'wikidata': 'https://www.wikidata.org/wiki/Q11180', 'display_name': 'Internal medicine', 'level': 1, 'score': 0.2778833}, {'id': 'https://openalex.org/C77088390', 'wikidata': 'https://www.wikidata.org/wiki/Q8513', 'display_name': 'Database', 'level': 1, 'score': 0.26772833}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D000081029', 'descriptor_name': 'Pulmonary Arterial Hypertension', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D001792', 'descriptor_name': 'Blood Platelets', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1111/ped.15428', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S113298455', 'display_name': 'Pediatrics International', 'issn_l': '1328-8067', 'issn': ['1328-8067', '1442-200X'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, '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': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/36445004', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/2', 'score': 0.48, 'display_name': 'Zero hunger'}], 'grants': [{'funder': 'https://openalex.org/F4320310076', 'funder_display_name': 'National Center for Child Health and Development', 'award_id': 'B3'}], 'datasets': [], 'versions': [], 'referenced_works_count': 5, 'referenced_works': ['https://openalex.org/W2231655718', 'https://openalex.org/W2783340643', 'https://openalex.org/W2913091737', 'https://openalex.org/W3157689224', 'https://openalex.org/W3193673802'], 'related_works': ['https://openalex.org/W4389568370', 'https://openalex.org/W3108674512', 'https://openalex.org/W3032375762', 'https://openalex.org/W3031052312', 'https://openalex.org/W2748952813', 'https://openalex.org/W2586801360', 'https://openalex.org/W2080531066', 'https://openalex.org/W1995515455', 'https://openalex.org/W1506200166', 'https://openalex.org/W1489783725'], 'abstract_inverted_index': {'Pediatrics': [0], 'InternationalVolume': [1], '65,': [2], 'Issue': [3], '1': [4], 'e15428': [5], 'CLINICAL': [6], 'NOTE': [7], 'KARS-related': [8, 588], 'diseases': [9], 'with': [10, 413, 533], 'macrothrombocytes': [11], 'and': [12, 26, 33, 56, 64, 76, 84, 109, 133, 151, 158, 171, 192, 199, 222, 230, 242, 250, 275, 299, 317, 324, 337, 374, 378, 390, 397, 416, 528, 536, 591, 642], 'pulmonary': [13, 643], 'arterial': [14], 'hypertension': [15], 'Mako': [16, 19, 182, 185], 'Kimura': [17, 20, 183, 186], 'Wada,': [18, 184], 'Wada': [21, 187], 'Center': [22, 29, 60, 80, 105, 129, 147, 154, 167, 188, 195, 226, 246, 271, 295, 313, 320, 333], 'for': [23, 30, 38, 61, 81, 92, 106, 114, 130, 138, 148, 155, 168, 176, 189, 196, 204, 227, 247, 258, 272, 280, 296, 304, 314, 321, 334, 342, 429, 476, 502, 587], 'Postgraduate': [24, 149, 190, 315], 'Education': [25, 150, 191, 316], 'Training,': [27, 152, 193, 318], 'National': [28, 59, 79, 104, 128, 153, 166, 194, 225, 245, 270, 294, 319, 332], 'Child': [31, 62, 82, 107, 131, 156, 169, 197, 228, 248, 273, 297, 322, 335], 'Health': [32, 63, 83, 108, 132, 157, 170, 198, 229, 249, 274, 298, 323, 336], 'Development': [34, 65, 110, 134, 159, 172, 200, 231, 276, 300, 325, 338], '(NCCHD),': [35, 66, 111, 135, 160, 173, 201, 232, 277, 301, 326, 339], 'Tokyo,': [36, 67, 112, 136, 161, 174, 202, 233, 278, 302, 327, 340], 'JapanSearch': [37, 113, 137, 175, 203, 279, 303, 341], 'more': [39, 93, 115, 139, 177, 205, 259, 281, 305, 343], 'papers': [40, 94, 116, 140, 178, 206, 260, 282, 306, 344], 'by': [41, 95, 117, 141, 179, 207, 261, 283, 307, 345, 486], 'this': [42, 96, 118, 142, 180, 208, 262, 284, 308, 346, 411, 430], 'authorYasuyuki': [43, 209], 'Fukuhara,': [44, 71, 210, 237], 'Corresponding': [45, 211], 'Author': [46, 212], 'Yasuyuki': [47, 70, 213, 236], 'Fukuhara': [48, 214], '[email': [49, 90, 215, 256], 'protected]': [50, 216], 'orcid.org/0000-0002-4081-6739': [51, 217], 'Division': [52, 72, 101, 163, 218, 238, 267, 329], 'of': [53, 73, 102, 125, 164, 219, 239, 268, 291, 330, 376, 386, 399, 410, 440, 481, 526, 620], 'Clinical': [54, 74, 220, 240], 'Genetics': [55, 75, 221, 241], 'Molecular': [57, 77, 223, 243], 'Medicine,': [58, 78, 127, 224, 244, 293], 'Japan': [68, 162, 234, 328], 'Correspondence': [69, 235], 'Development,': [85, 251], 'Tokyo': [86, 252], '157-8535,': [87, 253], 'Japan.': [88, 254], 'Email:': [89, 255], 'protected]Search': [91, 257], 'authorItaru': [97, 263], 'Hayakawa,': [98, 264], 'Itaru': [99, 265], 'Hayakawa': [100, 266, 573], 'Neurology,': [103, 269], 'authorTadashi': [119, 285], 'Kaname,': [120, 286], 'Tadashi': [121, 287], 'Kaname': [122, 288], 'orcid.org/0000-0003-0281-9610': [123, 289], 'Department': [124, 290], 'Genome': [126, 292], 'authorAkira': [143, 309], 'Ishiguro,': [144, 310], 'Akira': [145, 311], 'Ishiguro': [146, 312], 'Hematology,': [165, 331], 'author': [181, 347, 501], 'First': [348], 'published:': [349], '29': [350], 'November': [351], '2022': [352], 'https://doi.org/10.1111/ped.15428Read': [353], 'the': [354, 392, 402, 477, 487, 499, 503, 617], 'full': [355, 366], 'textAboutPDF': [356], 'ToolsRequest': [357], 'permissionExport': [358], 'citationAdd': [359], 'to': [360, 382, 405, 498], 'favoritesTrack': [361], 'citation': [362], 'ShareShare': [363], 'Give': [364], 'accessShare': [365, 368], 'text': [367], 'full-text': [369, 384, 408], 'accessPlease': [370], 'review': [371], 'our': [372], 'Terms': [373, 396], 'Conditions': [375, 398], 'Use': [377], 'check': [379], 'box': [380], 'below': [381, 404], 'share': [383, 406], 'version': [385, 409], 'article.I': [387], 'have': [388], 'read': [389], 'accept': [391], 'Wiley': [393], 'Online': [394], 'Library': [395], 'UseShareable': [400], 'LinkUse': [401], 'link': [403], 'a': [407, 422, 534], 'article': [412], 'your': [414], 'friends': [415], 'colleagues.': [417], 'Learn': [418], 'more.Copy': [419], 'URL': [420], 'Share': [421], 'linkShare': [423], 'onEmailFacebookTwitterLinkedInRedditWechat': [424], 'No': [425], 'abstract': [426], 'is': [427, 473], 'available': [428], 'article.': [431, 504], 'CONFLICT': [432], 'OF': [433], 'INTEREST': [434], 'The': [435, 471], 'authors': [436], 'declare': [437], 'no': [438], 'conflict': [439], 'interest.': [441], 'Supporting': [442], 'Information': [443], 'Filename': [444], 'Description': [445], 'ped15428-sup-0001-TableS1.docxWord': [446], '2007': [447], 'document': [448], ',': [449], '15.5': [450], 'KB': [451, 456, 461, 466], 'Table': [452, 457], 'S1': [453, 463], 'ped15428-sup-0002-TableS2.TIFimage/tif,': [454], '78.7': [455], 'S2': [458, 468], 'ped15428-sup-0003-FigureS1.TIFimage/tif,': [459], '64.9': [460], 'Figure': [462, 467], 'ped15428-sup-0004-FigureS2.TIFimage/tif,': [464], '63.8': [465], 'Please': [469], 'note:': [470], 'publisher': [472], 'not': [474], 'responsible': [475], 'content': [478], 'or': [479, 647], 'functionality': [480], 'any': [482], 'supporting': [483], 'information': [484], 'supplied': [485], 'authors.': [488], 'Any': [489], 'queries': [490], '(other': [491], 'than': [492], 'missing': [493], 'content)': [494], 'should': [495], 'be': [496], 'directed': [497], 'corresponding': [500], 'REFERENCES': [505], '1Cappuccio': [506], 'G,': [507], 'Berti': [508], 'CC,': [509], 'Baruffini': [510], 'E,': [511], 'Sullivan': [512], 'J,': [513, 551], 'Shashi': [514], 'V,': [515], 'Jewett': [516], 'T,': [517, 578], 'et': [518, 556, 583, 610], 'al.': [519, 557, 584, 611], 'Bi-allelic': [520], 'KARS1': [521], 'pathogenic': [522, 560], 'variants': [523, 561], 'affecting': [524], 'functions': [525], 'cytosolic': [527], 'mitochondrial': [529, 589, 621], 'isoforms': [530], 'are': [531], 'associated': [532], 'progressive': [535, 565, 592], 'multisystem': [537], 'disease.': [538], 'Hum': [539], 'Mutat.': [540], '2021;': [541, 595], '42:': [542], '745–61.': [543], '2Itoh': [544], 'M,': [545, 555, 599], 'Dai': [546], 'H,': [547, 582, 605], 'Horike': [548], 'SI,': [549], 'Gonzalez': [550], 'Kitami': [552], 'Y,': [553, 572, 576, 601, 603, 607, 609, 635], 'Meguro-Horike': [554], 'Biallelic': [558], 'KARS': [559], 'cause': [562], 'an': [563], 'early-onset': [564], 'leukodystrophy.': [566, 593], 'Brain.': [567], '2019;': [568], '142:': [569], '560–73.': [570], '3Murofushi': [571], 'I,': [574, 633], 'Abe': [575], 'Ohto': [577], 'Murayama': [579], 'K,': [580], 'Suzuki': [581], 'Ketogenic': [585], 'diet': [586], 'dysfunction': [590, 641], 'Neuropediatrics.': [594], '53:': [596], '65–8.': [597], '4Kohda': [598], 'Tokuzawa': [600], 'Kishita': [602], 'Nyuzuki': [604], 'Moriyama': [606], 'Mizuno': [608], 'A': [612], 'comprehensive': [613], 'genomic': [614], 'analysis': [615], 'reveals': [616], 'genetic': [618], 'landscape': [619], 'respiratory': [622], 'chain': [623], 'complex': [624], 'deficiencies.': [625], 'PLoS': [626], 'Genet.': [627], '2016;': [628], '12:e1005679.': [629], '5Marshall': [630], 'JD,': [631], 'Bazan': [632], 'Zhang': [634], 'Fares': [636], 'WH,': [637], 'Lee': [638], 'PJ.': [639], 'Mitochondrial': [640], 'hypertension:': [644], 'cause,': [645], 'effect,': [646], 'both.': [648], 'Am': [649], 'J': [650], 'Physiol': [651], 'Lung': [652], 'Cell': [653], 'Mol': [654], 'Physiol.': [655], '2018;': [656], '314:': [657], 'L782–96.': [658], 'Volume65,': [659], 'Issue1January/December': [660], '2023e15428': [661], 'ReferencesRelatedInformation': [662]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4310258982', 'counts_by_year': [{'year': 2023, 'cited_by_count': 1}], 'updated_date': '2024-12-15T22:13:00.815262', 'created_date': '2022-11-30'}