Publication Information

{'id': 'https://openalex.org/W1564941242', 'doi': 'https://doi.org/10.1034/j.1399-0004.2001.600411.x', 'title': 'A <i>de novo</i> mutation (<i>R279C</i>) in the <i>P63</i> gene in a patient with EEC syndrome', 'display_name': 'A <i>de novo</i> mutation (<i>R279C</i>) in the <i>P63</i> gene in a patient with EEC syndrome', 'publication_year': 2001, 'publication_date': '2001-10-01', 'ids': {'openalex': 'https://openalex.org/W1564941242', 'doi': 'https://doi.org/10.1034/j.1399-0004.2001.600411.x', 'mag': '1564941242', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/11683779'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1034/j.1399-0004.2001.600411.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4954800', 'display_name': 'Clinical Genetics', 'issn_l': '0009-9163', 'issn': ['0009-9163', '1399-0004'], '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': 'letter', '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/A5026794757', 'display_name': 'Rika Kosaki', 'orcid': 'https://orcid.org/0000-0002-4367-6129'}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}, {'id': 'https://openalex.org/I4210095856', 'display_name': "Saitama Children's Medical Center", 'ror': 'https://ror.org/00smq1v26', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210095856']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Rika Kosaki', 'raw_affiliation_strings': ["Department of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan,", 'Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I203951103']}, {'raw_affiliation_string': "Department of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan,", 'institution_ids': ['https://openalex.org/I4210095856']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015106160', 'display_name': 'Hirofumi Ohashi', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210095856', 'display_name': "Saitama Children's Medical Center", 'ror': 'https://ror.org/00smq1v26', 'country_code': 'JP', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210095856']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hirofumi Ohashi', 'raw_affiliation_strings': ["Department of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan,"], 'affiliations': [{'raw_affiliation_string': "Department of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan,", 'institution_ids': ['https://openalex.org/I4210095856']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5042748279', 'display_name': 'Hiroshi Yoshihashi', 'orcid': 'https://orcid.org/0000-0003-1727-625X'}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Hiroshi Yoshihashi', 'raw_affiliation_strings': ['Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I203951103']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5008343733', 'display_name': 'Taichi A. Suzuki', 'orcid': 'https://orcid.org/0000-0001-7800-8596'}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Taichi Suzuki', 'raw_affiliation_strings': ['Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I203951103']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5088798513', 'display_name': 'Kenjiro Kosaki', 'orcid': 'https://orcid.org/0000-0002-6798-8151'}, 'institutions': [{'id': 'https://openalex.org/I203951103', 'display_name': 'Keio University', 'ror': 'https://ror.org/02kn6nx58', 'country_code': 'JP', 'type': 'education', 'lineage': ['https://openalex.org/I203951103']}], 'countries': ['JP'], 'is_corresponding': False, 'raw_author_name': 'Kenjiro Kosaki', 'raw_affiliation_strings': ['Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan', 'institution_ids': ['https://openalex.org/I203951103']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 4740, 'currency': 'USD', 'value_usd': 4740, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': None, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 18, 'citation_normalized_percentile': {'value': 0.651163, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 84, 'max': 85}, 'biblio': {'volume': '60', 'issue': '4', 'first_page': '314', 'last_page': '315'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11725', 'display_name': 'Immunodeficiency and Autoimmune Disorders', 'score': 0.9925, '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'}}, 'topics': [{'id': 'https://openalex.org/T11725', 'display_name': 'Immunodeficiency and Autoimmune Disorders', 'score': 0.9925, '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'}}, {'id': 'https://openalex.org/T10754', 'display_name': 'Neuroendocrine Tumor Research Advances', 'score': 0.9874, 'subfield': {'id': 'https://openalex.org/subfields/2713', 'display_name': 'Epidemiology'}, '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/T11213', 'display_name': 'Genomic variations and chromosomal abnormalities', 'score': 0.9844, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, '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/medical-genetics', 'display_name': 'Medical genetics', 'score': 0.46432275}], 'concepts': [{'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.49963403}, {'id': 'https://openalex.org/C64474127', 'wikidata': 'https://www.wikidata.org/wiki/Q1071953', 'display_name': 'Medical genetics', 'level': 3, 'score': 0.46432275}, {'id': 'https://openalex.org/C512399662', 'wikidata': 'https://www.wikidata.org/wiki/Q3505712', 'display_name': 'Family medicine', 'level': 1, 'score': 0.44030923}, {'id': 'https://openalex.org/C2993838110', 'wikidata': 'https://www.wikidata.org/wiki/Q494230', 'display_name': 'Medical school', 'level': 2, 'score': 0.41162354}, {'id': 'https://openalex.org/C187212893', 'wikidata': 'https://www.wikidata.org/wiki/Q123028', 'display_name': 'Pediatrics', 'level': 1, 'score': 0.39970067}, {'id': 'https://openalex.org/C161191863', 'wikidata': 'https://www.wikidata.org/wiki/Q199655', 'display_name': 'Library science', 'level': 1, 'score': 0.39471054}, {'id': 'https://openalex.org/C509550671', 'wikidata': 'https://www.wikidata.org/wiki/Q126945', 'display_name': 'Medical education', 'level': 1, 'score': 0.15477917}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.15327677}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.113058984}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.069011}, {'id': 'https://openalex.org/C41008148', 'wikidata': 'https://www.wikidata.org/wiki/Q21198', 'display_name': 'Computer science', 'level': 0, 'score': 0.06747919}], 'mesh': [{'descriptor_ui': 'D004476', 'descriptor_name': 'Ectodermal Dysplasia', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D008565', 'descriptor_name': 'Membrane Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D010750', 'descriptor_name': 'Phosphoproteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D015534', 'descriptor_name': 'Trans-Activators', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D019943', 'descriptor_name': 'Amino Acid Substitution', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D019943', 'descriptor_name': 'Amino Acid Substitution', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002971', 'descriptor_name': 'Cleft Lip', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002971', 'descriptor_name': 'Cleft Lip', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002972', 'descriptor_name': 'Cleft Palate', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002972', 'descriptor_name': 'Cleft Palate', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004268', 'descriptor_name': 'DNA-Binding Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004476', 'descriptor_name': 'Ectodermal Dysplasia', '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': 'D005532', 'descriptor_name': 'Foot Deformities, Congenital', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D005532', 'descriptor_name': 'Foot Deformities, Congenital', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016147', 'descriptor_name': 'Genes, Tumor Suppressor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006228', 'descriptor_name': 'Hand Deformities, Congenital', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D006228', 'descriptor_name': 'Hand Deformities, Congenital', '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': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D020125', 'descriptor_name': 'Mutation, Missense', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010750', 'descriptor_name': 'Phosphoproteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016133', 'descriptor_name': 'Polymerase Chain Reaction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D013577', 'descriptor_name': 'Syndrome', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015534', 'descriptor_name': 'Trans-Activators', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014157', 'descriptor_name': 'Transcription Factors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D025521', 'descriptor_name': 'Tumor Suppressor Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1034/j.1399-0004.2001.600411.x', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4954800', 'display_name': 'Clinical Genetics', 'issn_l': '0009-9163', 'issn': ['0009-9163', '1399-0004'], '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/11683779', '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': [{'score': 0.46, 'id': 'https://metadata.un.org/sdg/2', 'display_name': 'Zero hunger'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 6, 'referenced_works': ['https://openalex.org/W1869756393', 'https://openalex.org/W2016840856', 'https://openalex.org/W2060823106', 'https://openalex.org/W2096276671', 'https://openalex.org/W2116718098', 'https://openalex.org/W2139538991'], 'related_works': ['https://openalex.org/W4247825769', 'https://openalex.org/W4240870703', 'https://openalex.org/W4237871563', 'https://openalex.org/W3144426676', 'https://openalex.org/W2150627712', 'https://openalex.org/W2135206290', 'https://openalex.org/W2035623498', 'https://openalex.org/W2016343322', 'https://openalex.org/W1995845735', 'https://openalex.org/W1970285803'], 'abstract_inverted_index': {'Clinical': [0], 'GeneticsVolume': [1], '60,': [2], 'Issue': [3], '4': [4], 'p.': [5], '314-315': [6, 346], 'A': [7], 'de': [8], 'novo': [9], 'mutation': [10], '(R279C)': [11], 'in': [12, 16], 'the': [13, 263, 301, 311], 'P63': [14], 'gene': [15], 'a': [17, 316, 331], 'patient': [18], 'with': [19, 322], 'EEC': [20], 'syndrome': [21], 'Rika': [22, 24, 128, 130], 'Kosaki,': [23, 109, 129, 215], 'Kosaki': [25, 111, 131, 217], 'Department': [26, 36, 55, 74, 93, 112, 132, 142, 161, 180, 199, 218], 'of': [27, 37, 42, 56, 75, 80, 94, 99, 113, 118, 133, 143, 148, 162, 181, 186, 200, 205, 219, 224, 243, 248, 252, 285, 295, 308, 319], 'Medical': [28, 32, 57, 61, 134, 138, 163, 167, 244], 'Genetics,': [29, 58, 135, 164], 'Saitama': [30, 59, 136, 165], "Children's": [31, 60, 137, 166], 'Center,': [33, 62, 139, 168], 'Iwatsuki,': [34, 63, 140, 169], 'Japan,': [35, 141], 'Pediatrics,': [38, 76, 95, 114, 144, 182, 201, 220], 'Keio': [39, 77, 96, 115, 145, 183, 202, 221], 'University': [40, 78, 97, 116, 146, 184, 203, 222, 250], 'School': [41, 79, 98, 117, 147, 185, 204, 223, 251], 'Medicine,': [43, 81, 100, 119, 149, 187, 206, 225], 'Tokyo,': [44, 82, 101, 120, 150, 188, 207, 226], 'JapanSearch': [45, 83, 102, 121, 151, 189, 208, 227], 'for': [46, 65, 84, 103, 122, 152, 171, 190, 209, 228, 339], 'more': [47, 66, 85, 104, 123, 153, 172, 191, 210, 229], 'papers': [48, 67, 86, 105, 124, 154, 173, 192, 211, 230], 'by': [49, 68, 87, 106, 125, 155, 174, 193, 212, 231], 'this': [50, 69, 88, 107, 126, 156, 175, 194, 213, 232, 320, 340], 'authorHirofumi': [51, 157], 'Ohashi,': [52, 158], 'Hirofumi': [53, 159], 'Ohashi': [54, 160], 'Japan,Search': [64, 170], 'authorHiroshi': [70, 176], 'Yoshihashi,': [71, 177], 'Hiroshi': [72, 178], 'Yoshihashi': [73, 179], 'authorTaichi': [89, 195], 'Suzuki,': [90, 196], 'Taichi': [91, 197], 'Suzuki': [92, 198], 'authorKenjiro': [108, 214], 'Kenjiro': [110, 216, 241], 'author': [127, 233], 'First': [234], 'published:': [235], '12': [236], 'January': [237], '2002': [238], 'https://doi.org/10.1034/j.1399-0004.2001.600411.xCitations:': [239], '16': [240], 'KosakiDivision': [242], 'Genetics': [245], 'and': [246, 283, 287, 299, 306, 325], 'DysmorphologyDepartment': [247], 'PediatricsKeio': [249], 'Medicine35': [253], 'ShinanomachiShinjuku-kuTokyo': [254], '160-8582,': [255], 'JapanTelephone:': [256], '+81-3-3353-1211': [257], 'ext': [258], '62368Fax:': [259], '+81-3-5379-1978E-mail:': [260], '[email protected]': [261], 'Read': [262], 'full': [264, 275], 'textAboutPDF': [265], 'ToolsRequest': [266], 'permissionExport': [267], 'citationAdd': [268], 'to': [269, 291, 314], 'favoritesTrack': [270], 'citation': [271], 'ShareShare': [272], 'Give': [273], 'accessShare': [274, 277], 'text': [276], 'full-text': [278, 293, 317], 'accessPlease': [279], 'review': [280], 'our': [281], 'Terms': [282, 305], 'Conditions': [284, 307], 'Use': [286], 'check': [288], 'box': [289], 'below': [290, 313], 'share': [292, 315], 'version': [294, 318], 'article.I': [296], 'have': [297], 'read': [298], 'accept': [300], 'Wiley': [302], 'Online': [303], 'Library': [304], 'UseShareable': [309], 'LinkUse': [310], 'link': [312], 'article': [321], 'your': [323], 'friends': [324], 'colleagues.': [326], 'Learn': [327], 'more.Copy': [328], 'URL': [329], 'Share': [330], 'linkShare': [332], 'onFacebookTwitterLinked': [333], 'InRedditWechat': [334], 'No': [335], 'abstract': [336], 'is': [337], 'available': [338], 'article.Citing': [341], 'Literature': [342], 'Volume60,': [343], 'Issue4October': [344], '2001Pages': [345], 'RelatedInformation': [347]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W1564941242', 'counts_by_year': [{'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-24T02:13:01.100879', 'created_date': '2016-06-24'}