Publication Information

{'id': 'https://openalex.org/W2169187782', 'doi': 'https://doi.org/10.2340/00015555-1724', 'title': 'A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma', 'display_name': 'A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma', 'publication_year': 2014, 'publication_date': '2014-01-01', 'ids': {'openalex': 'https://openalex.org/W2169187782', 'doi': 'https://doi.org/10.2340/00015555-1724', 'mag': '2169187782', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/24162853'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.2340/00015555-1724', 'pdf_url': 'https://medicaljournalssweden.se/actadv/article/download/6357/9620', 'source': {'id': 'https://openalex.org/S4210210846', 'display_name': 'Acta Dermato Venereologica', 'issn_l': '0001-5555', 'issn': ['0001-5555', '1651-2057'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310317100', 'host_organization_name': 'Soc for Publication of\xa0Acta Dermato-Venereologica', 'host_organization_lineage': ['https://openalex.org/P4310317100'], 'host_organization_lineage_names': ['Soc for Publication of\xa0Acta Dermato-Venereologica'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'gold', 'oa_url': 'https://medicaljournalssweden.se/actadv/article/download/6357/9620', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5100351519', 'display_name': 'Ming Li', 'orcid': 'https://orcid.org/0000-0003-3053-2756'}, 'institutions': [{'id': 'https://openalex.org/I2801518579', 'display_name': 'XinHua Hospital', 'ror': 'https://ror.org/04dzvks42', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801518579']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Ming Li', 'raw_affiliation_strings': ['Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China. [email protected].'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 200092 Shanghai, China. [email protected].', 'institution_ids': ['https://openalex.org/I2801518579']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103582005', 'display_name': 'Xun-yi Dai', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Xunyi Dai', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5027984328', 'display_name': 'Ruhong Cheng', 'orcid': 'https://orcid.org/0000-0002-5613-3924'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Ruhong Cheng', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108500349', 'display_name': 'Lijia Yang', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Lijia Yang', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100616393', 'display_name': 'Zhirong Yao', 'orcid': 'https://orcid.org/0000-0003-0785-8985'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Zhirong Yao', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5035662043', 'display_name': 'Jiangbo Liu', 'orcid': 'https://orcid.org/0000-0002-8781-0414'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Jiangbo Liu', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 1, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 1600, 'currency': 'EUR', 'value_usd': 1725, 'provenance': 'doaj'}, 'apc_paid': {'value': 1600, 'currency': 'EUR', 'value_usd': 1725, 'provenance': 'doaj'}, 'fwci': 0.456, 'has_fulltext': True, 'fulltext_origin': 'pdf', 'cited_by_count': 6, 'citation_normalized_percentile': {'value': 0.560952, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 82, 'max': 83}, 'biblio': {'volume': '94', 'issue': '3', 'first_page': '339', 'last_page': '340'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11650', 'display_name': 'Skin and Cellular Biology Research', 'score': 0.9919, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11650', 'display_name': 'Skin and Cellular Biology Research', 'score': 0.9919, 'subfield': {'id': 'https://openalex.org/subfields/1307', 'display_name': 'Cell Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11033', 'display_name': 'Contact Dermatitis and Allergies', 'score': 0.988, 'subfield': {'id': 'https://openalex.org/subfields/2708', 'display_name': 'Dermatology'}, '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/T12161', 'display_name': 'Plant Surface Properties and Treatments', 'score': 0.9784, 'subfield': {'id': 'https://openalex.org/subfields/1110', 'display_name': 'Plant Science'}, 'field': {'id': 'https://openalex.org/fields/11', 'display_name': 'Agricultural and Biological Sciences'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/pedigree-chart', 'display_name': 'Pedigree chart', 'score': 0.5211994}, {'id': 'https://openalex.org/keywords/keratoderma', 'display_name': 'Keratoderma', 'score': 0.47210637}], 'concepts': [{'id': 'https://openalex.org/C84597430', 'wikidata': 'https://www.wikidata.org/wiki/Q106227', 'display_name': 'Locus (genetics)', 'level': 3, 'score': 0.6797935}, {'id': 'https://openalex.org/C22593422', 'wikidata': 'https://www.wikidata.org/wiki/Q3242583', 'display_name': 'Pedigree chart', 'level': 3, 'score': 0.5211994}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.509292}, {'id': 'https://openalex.org/C2779335771', 'wikidata': 'https://www.wikidata.org/wiki/Q1739195', 'display_name': 'Keratoderma', 'level': 3, 'score': 0.47210637}, {'id': 'https://openalex.org/C16005928', 'wikidata': 'https://www.wikidata.org/wiki/Q171171', 'display_name': 'Dermatology', 'level': 1, 'score': 0.42558354}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.412462}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.38870662}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.3882037}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.36135906}, {'id': 'https://openalex.org/C2779915019', 'wikidata': 'https://www.wikidata.org/wiki/Q1640998', 'display_name': 'Hyperkeratosis', 'level': 2, 'score': 0.30942667}], 'mesh': [{'descriptor_ui': 'D033942', 'descriptor_name': 'Adaptor Proteins, Vesicular Transport', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D007645', 'descriptor_name': 'Keratoderma, Palmoplantar', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017384', 'descriptor_name': 'Sequence Deletion', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D033942', 'descriptor_name': 'Adaptor Proteins, Vesicular Transport', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002681', 'descriptor_name': 'China', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020022', 'descriptor_name': 'Genetic Predisposition to Disease', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D040941', 'descriptor_name': 'Heredity', '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': 'D007645', 'descriptor_name': 'Keratoderma, Palmoplantar', 'qualifier_ui': 'Q000208', 'qualifier_name': 'ethnology', 'is_major_topic': False}, {'descriptor_ui': 'D007645', 'descriptor_name': 'Keratoderma, Palmoplantar', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007645', 'descriptor_name': 'Keratoderma, Palmoplantar', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008875', 'descriptor_name': 'Middle Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012307', 'descriptor_name': 'Risk Factors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012867', 'descriptor_name': 'Skin', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012867', 'descriptor_name': 'Skin', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.2340/00015555-1724', 'pdf_url': 'https://medicaljournalssweden.se/actadv/article/download/6357/9620', 'source': {'id': 'https://openalex.org/S4210210846', 'display_name': 'Acta Dermato Venereologica', 'issn_l': '0001-5555', 'issn': ['0001-5555', '1651-2057'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310317100', 'host_organization_name': 'Soc for Publication of\xa0Acta Dermato-Venereologica', 'host_organization_lineage': ['https://openalex.org/P4310317100'], 'host_organization_lineage_names': ['Soc for Publication of\xa0Acta Dermato-Venereologica'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/24162853', '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': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.2340/00015555-1724', 'pdf_url': 'https://medicaljournalssweden.se/actadv/article/download/6357/9620', 'source': {'id': 'https://openalex.org/S4210210846', 'display_name': 'Acta Dermato Venereologica', 'issn_l': '0001-5555', 'issn': ['0001-5555', '1651-2057'], 'is_oa': True, 'is_in_doaj': True, 'is_core': True, 'host_organization': 'https://openalex.org/P4310317100', 'host_organization_name': 'Soc for Publication of\xa0Acta Dermato-Venereologica', 'host_organization_lineage': ['https://openalex.org/P4310317100'], 'host_organization_lineage_names': ['Soc for Publication of\xa0Acta Dermato-Venereologica'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.84}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 14, 'referenced_works': ['https://openalex.org/W1763112407', 'https://openalex.org/W1945651496', 'https://openalex.org/W1968616658', 'https://openalex.org/W1992145493', 'https://openalex.org/W2010821542', 'https://openalex.org/W2011558883', 'https://openalex.org/W2027528410', 'https://openalex.org/W2038838829', 'https://openalex.org/W2043109514', 'https://openalex.org/W2043674513', 'https://openalex.org/W2107298999', 'https://openalex.org/W2128427994', 'https://openalex.org/W2438813813', 'https://openalex.org/W4298415398'], 'related_works': ['https://openalex.org/W4240933666', 'https://openalex.org/W2521172649', 'https://openalex.org/W2416097406', 'https://openalex.org/W2410574160', 'https://openalex.org/W2195714850', 'https://openalex.org/W2015027654', 'https://openalex.org/W2010375415', 'https://openalex.org/W1977326233', 'https://openalex.org/W1966083865', 'https://openalex.org/W1515918986'], 'abstract_inverted_index': {'©': [0, 8], '2014': [1, 9], 'The': [2, 48], 'Authors.': [3], 'doi:': [4], '10.2340/00015555-1724': [5], 'Journal': [6], 'Compilation': [7], 'Acta': [10], 'Dermato-Venereologica.': [11], 'ISSN': [12], '0001-5555': [13], 'Punctate': [14], 'palmoplantar': [15], 'keratoderma': [16], '(PPPK,': [17], 'OMIM': [18], '148600),': [19], 'also': [20], 'known': [21], 'as': [22, 61, 63, 74], 'Buschke-Fischer-Brauer’s': [23], 'disease,': [24, 78], 'is': [25, 32], 'a': [26, 131, 135, 140], 'rare': [27], 'autosomal': [28], 'dominant': [29], 'disorder.': [30], 'It': [31], 'characterised': [33], 'by': [34], 'multiple': [35], 'tiny': [36], 'punctate': [37], 'keratoses': [38], 'on': [39, 95], 'the': [40, 43, 92, 103], 'surface': [41], 'of': [42, 130, 153], 'palms': [44], 'and': [45, 81, 111, 123, 139, 155], 'soles': [46], '(1).': [47], 'lesions': [49], 'usually': [50], 'start': [51], 'to': [52, 57, 134, 142], 'develop': [53], 'in': [54, 107, 117, 158], 'late': [55, 62], 'childhood': [56], 'adolescence,': [58], 'but': [59], 'even': [60], 'middle': [64], 'age': [65], '(2).': [66], 'PPPK': [67, 93, 116, 132, 159], 'can': [68], 'be': [69], 'associated': [70], 'with': [71], 'malignancies,': [72], 'such': [73], 'lung': [75], 'cancer,': [76], 'Hodgkin’s': [77], 'breast': [79], 'cancer': [80], 'prostatic': [82], 'carcinoma': [83], '(3).': [84], 'In': [85], '2003,': [86], 'Martinez-Mir': [87], 'et': [88, 99, 120, 125], 'al.': [89, 100, 121, 126], '(4)': [90], 'mapped': [91], 'gene': [94, 133], 'chromosome': [96, 147], '15q22–q24.': [97], 'Zhang': [98], '(5)': [101], 'performed': [102], 'genome-wide': [104], 'linkage': [105], 'study': [106], '2': [108], 'Chinese': [109], 'families': [110], 'identified': [112], '8q24.13–8q24.21': [113], 'locus': [114, 141], 'for': [115], '2004.': [118], 'Gao': [119], '(6)': [122], 'Mamai': [124], '(7)': [127], 'refined': [128], 'localisation': [129], 'region': [136], 'at': [137, 146], '15q22.2–15q22.31': [138], 'only': [143], '0.967': [144], 'Mb': [145], '15,': [148], 'respectively.': [149], 'Recently,': [150], 'pathogenic': [151], 'mutations': [152], 'AAGAB': [154], 'COL14A1': [156], 'genes': [157], 'pedigrees': [160], 'have': [161], 'been': [162], 'reported': [163], '(8–11).': [164]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2169187782', 'counts_by_year': [{'year': 2023, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 2}, {'year': 2015, 'cited_by_count': 2}, {'year': 2014, 'cited_by_count': 1}], 'updated_date': '2024-12-08T22:37:03.732066', 'created_date': '2016-06-24'}