A missense mutation in exon 1 of the keratin 9 gene in a Japanese patient with “Vörner type” hereditary palmoplantar keratoderma

Name: Work Video:
Duration: 3 min 30 s
Jun‐ichi Sakabe; Motonobu Nakamura; Y. Tokura
{'id': 'https://openalex.org/W2165335140', 'doi': 'https://doi.org/10.1684/ejd.2009.0657', 'title': 'A missense mutation in exon 1 of the keratin 9 gene in a Japanese patient with “Vörner type” hereditary palmoplantar keratoderma', 'display_name': 'A missense mutation in exon 1 of the keratin 9 gene in a Japanese patient with “Vörner type” hereditary palmoplantar keratoderma', 'publication_year': 2009, 'publication_date': '2009-05-01', 'ids': {'openalex': 'https://openalex.org/W2165335140', 'doi': 'https://doi.org/10.1684/ejd.2009.0657', 'mag': '2165335140', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/19258236'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1684/ejd.2009.0657', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S40813422', 'display_name': 'European Journal of Dermatology', 'issn_l': '1167-1122', 'issn': ['1167-1122', '1952-4013'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320125', 'host_organization_name': 'John Libbey Eurotext', 'host_organization_lineage': ['https://openalex.org/P4310320125'], 'host_organization_lineage_names': ['John Libbey Eurotext'], '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/A5037295790', 'display_name': 'Jun‐ichi Sakabe', 'orcid': 'https://orcid.org/0000-0002-8237-0472'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Jun-Ichi Sakabe', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5113666753', 'display_name': 'Motonobu Nakamura', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Motonobu Nakamura', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5043652685', 'display_name': 'Y. Tokura', 'orcid': 'https://orcid.org/0000-0001-7452-6919'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Yoshiki Tokura', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 0, 'institutions_distinct_count': 0, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.413748, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 64, 'max': 71}, 'biblio': {'volume': '19', 'issue': '3', 'first_page': '286', 'last_page': '287'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11650', 'display_name': 'Skin and Cellular Biology Research', 'score': 0.9999, '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': 0.9999, '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/T12161', 'display_name': 'Plant Surface Properties and Treatments', 'score': 0.9846, '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'}}, {'id': 'https://openalex.org/T11924', 'display_name': 'Polyamine Metabolism and Applications', 'score': 0.9673, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular 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'}}], 'keywords': [{'id': 'https://openalex.org/keywords/palmoplantar-keratoderma', 'display_name': 'Palmoplantar keratoderma', 'score': 0.89407724}, {'id': 'https://openalex.org/keywords/keratoderma', 'display_name': 'Keratoderma', 'score': 0.72318935}, {'id': 'https://openalex.org/keywords/dyskeratosis', 'display_name': 'Dyskeratosis', 'score': 0.4454186}, {'id': 'https://openalex.org/keywords/epidermolytic-hyperkeratosis', 'display_name': 'Epidermolytic hyperkeratosis', 'score': 0.4245702}], 'concepts': [{'id': 'https://openalex.org/C2778951404', 'wikidata': 'https://www.wikidata.org/wiki/Q7128426', 'display_name': 'Palmoplantar keratoderma', 'level': 3, 'score': 0.89407724}, {'id': 'https://openalex.org/C75563809', 'wikidata': 'https://www.wikidata.org/wiki/Q2656896', 'display_name': 'Missense mutation', 'level': 4, 'score': 0.833513}, {'id': 'https://openalex.org/C2779335771', 'wikidata': 'https://www.wikidata.org/wiki/Q1739195', 'display_name': 'Keratoderma', 'level': 3, 'score': 0.72318935}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.68666434}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.60884684}, {'id': 'https://openalex.org/C16005928', 'wikidata': 'https://www.wikidata.org/wiki/Q171171', 'display_name': 'Dermatology', 'level': 1, 'score': 0.5768912}, {'id': 'https://openalex.org/C81241287', 'wikidata': 'https://www.wikidata.org/wiki/Q189474', 'display_name': 'Keratin', 'level': 2, 'score': 0.57005715}, {'id': 'https://openalex.org/C2779915019', 'wikidata': 'https://www.wikidata.org/wiki/Q1640998', 'display_name': 'Hyperkeratosis', 'level': 2, 'score': 0.5662699}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.4923581}, {'id': 'https://openalex.org/C2780713498', 'wikidata': 'https://www.wikidata.org/wiki/Q2897327', 'display_name': 'Dyskeratosis', 'level': 3, 'score': 0.4454186}, {'id': 'https://openalex.org/C2994225774', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Gene mutation', 'level': 4, 'score': 0.42859071}, {'id': 'https://openalex.org/C2780860837', 'wikidata': 'https://www.wikidata.org/wiki/Q3801491', 'display_name': 'Epidermolytic hyperkeratosis', 'level': 3, 'score': 0.4245702}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.39608574}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.39083317}, {'id': 'https://openalex.org/C142724271', 'wikidata': 'https://www.wikidata.org/wiki/Q7208', 'display_name': 'Pathology', 'level': 1, 'score': 0.32862118}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.2279737}], 'mesh': [{'descriptor_ui': 'D053534', 'descriptor_name': 'Keratin-9', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D053546', 'descriptor_name': 'Keratoderma, Palmoplantar, Epidermolytic', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005533', 'descriptor_name': 'Foot Dermatoses', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005533', 'descriptor_name': 'Foot Dermatoses', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005533', 'descriptor_name': 'Foot Dermatoses', 'qualifier_ui': 'Q000473', 'qualifier_name': 'pathology', 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053534', 'descriptor_name': 'Keratin-9', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053546', 'descriptor_name': 'Keratoderma, Palmoplantar, Epidermolytic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D053546', 'descriptor_name': 'Keratoderma, Palmoplantar, Epidermolytic', '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': 'D010375', 'descriptor_name': 'Pedigree', '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': False, 'landing_page_url': 'https://doi.org/10.1684/ejd.2009.0657', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S40813422', 'display_name': 'European Journal of Dermatology', 'issn_l': '1167-1122', 'issn': ['1167-1122', '1952-4013'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320125', 'host_organization_name': 'John Libbey Eurotext', 'host_organization_lineage': ['https://openalex.org/P4310320125'], 'host_organization_lineage_names': ['John Libbey Eurotext'], '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/19258236', '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': [{'display_name': 'Life on land', 'score': 0.55, 'id': 'https://metadata.un.org/sdg/15'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W2793884852', 'https://openalex.org/W2429342501', 'https://openalex.org/W2411177439', 'https://openalex.org/W2273392761', 'https://openalex.org/W2106467767', 'https://openalex.org/W2089602871', 'https://openalex.org/W2056684930', 'https://openalex.org/W2056310932', 'https://openalex.org/W2015027654', 'https://openalex.org/W2010375415'], 'abstract_inverted_index': {'Auteur(s)': [0], ':': [1], 'Jun-Ichi': [2], 'Sakabe,': [3], 'Motonobu': [4], 'Nakamura,': [5], 'Yoshiki': [6], 'Tokura': [7], 'Department': [8], 'of\xa0Dermatology,': [9], 'University': [10], 'of\xa0Occupational': [11], 'and\xa0Environmental': [12], 'Health': [13], '(UOEH),': [14], '1-1\xa0Iseigaoka,': [15], 'Yahatanishi-ku,': [16], 'Kitakyushu': [17], '807-8555,': [18], 'Japan': [19], 'Epidermolytic': [20], 'hereditary': [21], 'palmoplantar': [22], 'keratoderma': [23], '(EHPPK;': [24], 'OMIM:': [25], '144200)': [26], 'or': [27], 'Vorner': [28], 'type': [29], 'PPK': [30], 'is': [31], 'characterized': [32], 'by': [33], 'hyperkeratotic': [34], 'lesions': [35], 'confined': [36], 'to': [37], 'the': [38], 'palms': [39], 'and': [40, 45], 'soles,': [41], 'histological': [42], 'granular': [43], 'degeneration': [44], 'mutations': [46], 'in': [47], 'keratin': [48], '9': [49], 'gene': [50], '(KRT9;': [51], 'NCBI:': [52], 'NM000226)': [53], '[1-5].': [54], 'Here,': [55], '[...]': [56]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2165335140', 'counts_by_year': [{'year': 2014, 'cited_by_count': 1}], 'updated_date': '2024-12-12T21:29:58.890038', 'created_date': '2016-06-24'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
