Publication Information

{'id': 'https://openalex.org/W1082405692', 'doi': None, 'title': 'Molecular mechanisms impairing biosynthesis and function of hemostatic proteins', 'display_name': 'Molecular mechanisms impairing biosynthesis and function of hemostatic proteins', 'publication_year': 2014, 'publication_date': '2014-03-28', 'ids': {'openalex': 'https://openalex.org/W1082405692', 'mag': '1082405692'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'http://eprints.unife.it/874/', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': [], '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/A5012135058', 'display_name': 'Matteo Campioni', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': True, 'raw_author_name': 'Matteo Campioni', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 0, 'institutions_distinct_count': 0, 'corresponding_author_ids': ['https://openalex.org/A5012135058'], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, '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': {'min': 0, 'max': 66}, 'biblio': {'volume': None, 'issue': None, 'first_page': None, 'last_page': None}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11280', 'display_name': 'Hemophilia Treatment and Research', 'score': 0.9997, '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/T11280', 'display_name': 'Hemophilia Treatment and Research', 'score': 0.9997, '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/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/T11917', 'display_name': 'Coagulation, Bradykinin, Polyphosphates, and Angioedema', 'score': 0.9899, 'subfield': {'id': 'https://openalex.org/subfields/2716', 'display_name': 'Genetics'}, '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/nonsense-mutation', 'display_name': 'Nonsense mutation', 'score': 0.8425427}, {'id': 'https://openalex.org/keywords/nonsense', 'display_name': 'Nonsense', 'score': 0.49601564}, {'id': 'https://openalex.org/keywords/von-willebrand-disease', 'display_name': 'von Willebrand Disease', 'score': 0.42586055}], 'concepts': [{'id': 'https://openalex.org/C96777560', 'wikidata': 'https://www.wikidata.org/wiki/Q518638', 'display_name': 'Nonsense mutation', 'level': 5, 'score': 0.8425427}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.66283673}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.62871534}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5408741}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.5407441}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.50031495}, {'id': 'https://openalex.org/C62923972', 'wikidata': 'https://www.wikidata.org/wiki/Q600499', 'display_name': 'Nonsense', 'level': 3, 'score': 0.49601564}, {'id': 'https://openalex.org/C176944494', 'wikidata': 'https://www.wikidata.org/wiki/Q1415380', 'display_name': 'Point mutation', 'level': 4, 'score': 0.44473857}, {'id': 'https://openalex.org/C2778780528', 'wikidata': 'https://www.wikidata.org/wiki/Q709360', 'display_name': 'Von Willebrand disease', 'level': 4, 'score': 0.42586055}, {'id': 'https://openalex.org/C2779394231', 'wikidata': 'https://www.wikidata.org/wiki/Q412310', 'display_name': 'Von Willebrand factor', 'level': 3, 'score': 0.2670261}, {'id': 'https://openalex.org/C89560881', 'wikidata': 'https://www.wikidata.org/wiki/Q101026', 'display_name': 'Platelet', 'level': 2, 'score': 0.10732797}, {'id': 'https://openalex.org/C203014093', 'wikidata': 'https://www.wikidata.org/wiki/Q101929', 'display_name': 'Immunology', 'level': 1, 'score': 0.08827874}], 'mesh': [], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'http://eprints.unife.it/874/', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W3091778108', 'https://openalex.org/W3014423874', 'https://openalex.org/W2937388057', 'https://openalex.org/W2915414290', 'https://openalex.org/W2800949711', 'https://openalex.org/W2788379862', 'https://openalex.org/W2763727400', 'https://openalex.org/W2538771349', 'https://openalex.org/W2172065748', 'https://openalex.org/W2156829187', 'https://openalex.org/W2153123871', 'https://openalex.org/W2140975320', 'https://openalex.org/W2091488105', 'https://openalex.org/W2090658322', 'https://openalex.org/W2068791867', 'https://openalex.org/W2032224500', 'https://openalex.org/W2024852592', 'https://openalex.org/W2007499634', 'https://openalex.org/W1976512618', 'https://openalex.org/W1488363503'], 'abstract_inverted_index': {'The': [0, 147, 180], 'gene': [1], 'mutations': [2, 86, 140, 172, 200, 239, 297], 'leading': [3, 34], 'to': [4, 10, 35, 76, 124, 173, 226, 242, 313, 323], 'hemorrhagic': [5], 'disorders': [6, 411], 'provide': [7], 'peculiar': [8], 'models': [9], 'elucidate': [11], 'molecular': [12, 32, 79], 'mechanisms': [13, 74], 'underlying': [14], 'protein': [15, 65, 232, 244, 309, 385], 'biosynthesis,': [16], 'and': [17, 23, 56, 84, 96, 113, 156, 189, 274, 293, 330, 340, 360, 383, 389], 'the': [18, 21, 31, 50, 68, 101, 114, 125, 136, 152, 164, 174, 187, 190, 216, 228, 253, 262, 266, 304, 314, 317, 343, 356, 375, 401, 406], 'relationship': [19, 185], 'between': [20, 186, 230, 380], 'structure': [22], 'function.\r\nThe': [24], 'research': [25], 'activity': [26], 'has': [27, 247], 'been': [28, 248], 'focused': [29], 'on': [30, 157, 291], 'defects': [33, 80], 'severe': [36, 212], 'deficiency': [37], 'of': [38, 53, 57, 116, 127, 130, 138, 144, 151, 166, 169, 176, 219, 255, 258, 265, 306, 316, 345, 358, 364, 378, 404], 'Factor': [39], 'IX': [40], '(FIX),': [41], 'a': [42, 46, 62, 105, 142, 167, 183, 206, 256, 362], 'serine': [43, 282], 'protease': [44], 'with': [45, 91], 'key': [47, 263, 376], 'role': [48, 264, 377], 'in': [49, 87, 100, 110, 120, 135, 215, 240, 303, 320, 327, 354, 370, 373, 412], 'intrinsic': [51], 'pathway': [52], 'blood': [54], 'coagulation,': [55], 'von': [58], 'Willebrand': [59], 'factor': [60], '(VWF),': [61], 'large': [63], 'multimeric': [64], 'essential': [66, 325], 'for': [67, 270, 400], 'primary': [69], 'hemostasis.\r\nIn': [70], 'particular,': [71], 'I': [72, 93, 162, 311], 'investigated': [73, 163], 'due': [75, 322], 'three': [77], 'different': [78], 'such': [81], 'as': [82, 224], 'nonsense': [83, 117, 139, 154, 170, 199], 'missense': [85, 238], 'F9': [88], 'gene,': [89, 103], 'associated': [90], 'type': [92, 382], 'hemophilia': [94], 'B,': [95], 'an': [97, 365, 372], 'in-frame': [98], 'deletion': [99], 'VWF': [102, 328], 'displaying': [104], 'dominant-negative': [106, 335], 'effect.\r\nResults': [107], 'from': [108, 252], 'investigations': [109], 'patients’': [111], 'plasma': [112], 'expression': [115, 254], 'FIX': [118, 132, 171, 221, 272], 'variants': [119, 260], 'eukaryotic': [121], 'cells': [122], 'led': [123], 'demonstration': [126], 'trace': [128], 'levels': [129], 'full-length': [131], 'molecules': [133], 'even': [134], 'presence': [137, 305], 'through': [141, 361], 'mechanism': [143], 'ribosome': [145], 'read-through.': [146], 'efficiency': [148], 'was': [149, 222], 'dependent': [150], 'specific': [153, 243], 'mutation': [155, 214], 'it': [158], 'sequence': [159], 'context.': [160], 'Moreover,': [161], 'susceptibility': [165], 'panel': [168, 257], 'induction': [175], 'readthrough': [177], 'by': [178, 237, 295], 'aminoglycosides.': [179], 'data': [181, 194], 'suggested': [182], 'direct': [184], 'spontaneous': [188], 'drug-induced': [191], 'readthrough.': [192], 'Overall': [193], 'indicated': [195], 'that': [196, 208, 285, 394], 'not': [197], 'all': [198], 'can': [201, 333], 'be': [202], 'considered': [203], 'truly': [204], '“null-mutations”,': [205], 'finding': [207, 396], 'have': [209, 397], 'pathophysiological': [210], 'implications.\r\nThe': [211], 'p.Tyr450Cys': [213], 'carboxyl-terminal': [217], 'region': [218], 'coagulation': [220, 281], 'chosen': [223], 'model': [225], 'study': [227, 338, 351], 'interplay': [229], 'impaired': [231], 'biosynthesis': [233], 'and/or': [234], 'function': [235, 294], 'caused': [236], 'relation': [241], 'regions,': [245], 'which': [246], 'poorly': [249], 'investigated.': [250], 'Results': [251], 'recombinant': [259], 'demonstrated': [261, 369], 'tyrosine': [267], 'phenyl': [268], 'group': [269], 'both': [271], 'secretion': [273, 292], 'coagulant': [275], 'activity.': [276], 'Comparison': [277], 'among': [278], 'highly': [279], 'homologous': [280], 'proteases': [283], 'indicate': [284], 'additive': [286], 'or': [287, 300, 390], 'compensatory': [288], 'pleiotropic': [289], 'effects': [290], 'carboxyl-terminus': [296], 'produce': [298], 'life-threatening': [299], 'mild': [301], 'phenotypes': [302], 'similarly': [307], 'reduced': [308], 'amounts.\r\nFinally': [310], 'contributed': [312], 'characterization': [315], 'dominant': [318, 347, 402], 'inheritance': [319], 'VWD,': [321, 405], 'two': [324], 'process': [326], 'dimerization': [329, 388], 'multimerization': [331], 'VWD': [332], 'express': [334], 'features.': [336], 'Previous': [337], 'characterized': [339], 'demonstrate': [341], 'd': [342], 'modulation': [344], 'this': [346], 'effect.': [348], 'In': [349], 'our': [350, 395], 'we': [352, 368], 'reproduced': [353], 'vivo': [355, 374], 'effect': [357], 'dominance': [359], 'creation': [363], 'artificial': [366], 'mutation,': [367], 'vitro': [371], 'interaction': [379], 'wild': [381], 'mutant': [384], 'monomers': [386], 'during': [387], 'multimerization,': [391], 'We': [392], 'believe': [393], 'general': [398], 'implication': [399], 'forms': [403], 'most': [407], 'frequent': [408], 'inherited': [409], 'bleeding': [410], 'humans.': [413]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1082405692', 'counts_by_year': [], 'updated_date': '2024-12-12T14:35:19.667129', 'created_date': '2016-06-24'}