{"id":"https://openalex.org/W4385680965","doi":"https://doi.org/10.3760/cma.j.cn112144-20230415-00158","title":"[A novel ectodysplasin-A receptor gene variant identified by whole-exome sequencing with hypohidrotic ectodermal dysplasia in a Chinese family].","display_name":"[A novel ectodysplasin-A receptor gene variant identified by whole-exome sequencing with hypohidrotic ectodermal dysplasia in a Chinese family].","publication_year":2023,"publication_date":"2023-08-09","ids":{"openalex":"https://openalex.org/W4385680965","doi":"https://doi.org/10.3760/cma.j.cn112144-20230415-00158","pmid":"https://pubmed.ncbi.nlm.nih.gov/37550046"},"language":"zh","primary_location":{"id":"pmid:37550046","doi":"https://doi.org/10.3760/cma.j.cn112144-20230415-00158","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37550046","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"X M Gao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"X M Gao","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057082263","display_name":"Yan Zhao","orcid":"https://orcid.org/0000-0001-8088-4288","observed_orcids":["https://orcid.org/0000-0001-8088-4288"]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Y Zhao","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023974810","display_name":"Jiabao Ren","orcid":"https://orcid.org/0000-0002-0543-3273","observed_orcids":["https://orcid.org/0000-0002-0543-3273"]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"J B Ren","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023171445","display_name":"Shuying Zheng","orcid":"https://orcid.org/0000-0002-7816-2910","observed_orcids":["https://orcid.org/0000-0002-7816-2910"]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"S Y Zheng","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y F Hou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Y F Hou","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101532529","display_name":"Lili Meng","orcid":"https://orcid.org/0000-0003-1080-0207","observed_orcids":["https://orcid.org/0000-0003-1080-0207"]},"institutions":[{"id":"https://openalex.org/I111381250","display_name":"Hebei Medical University","ror":"https://ror.org/04eymdx19","country_code":"CN","type":"education","lineage":["https://openalex.org/I111381250"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"L L Meng","raw_affiliation_strings":["Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Prosthodontics, School and Hospital of Stomatology, Hebei Medical University & Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":["https://openalex.org/I111381250"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025232083","display_name":"Wenjing Shen","orcid":"https://orcid.org/0000-0001-9637-2519","observed_orcids":["https://orcid.org/0000-0001-9637-2519"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W J Shen","raw_affiliation_strings":["Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hebei Key Laboratory of Stomatology & Hebei Clinical Research Center for Oral Diseases, Shijiazhuang 050017, China","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"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":null,"biblio":{"volume":"58","issue":"8","first_page":"839","last_page":"843"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.0006000000284984708,"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/T11167","display_name":"Hair Growth and Disorders","score":0.00039999998989515007,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hypohidrotic-ectodermal-dysplasia","display_name":"hypohidrotic ectodermal dysplasia","score":0.9330000281333923},{"id":"https://openalex.org/keywords/edar-gene","display_name":"EDAR gene","score":0.9150000214576721},{"id":"https://openalex.org/keywords/novel-frameshift-mutation","display_name":"novel frameshift mutation","score":0.5429999828338623},{"id":"https://openalex.org/keywords/truncated-protein","display_name":"truncated protein","score":0.531000018119812},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.4269999861717224},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.46799999475479126}],"concepts":[{"id":"https://openalex.org/C2777230673","wikidata":"https://www.wikidata.org/wiki/Q1077955","display_name":"Hypohidrotic ectodermal dysplasia","level":3,"score":0.9949600696563721},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6594627499580383},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5825982093811035},{"id":"https://openalex.org/C2777304866","wikidata":"https://www.wikidata.org/wiki/Q1323713","display_name":"Ectodermal dysplasia","level":2,"score":0.524291455745697},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4544821083545685},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41249457001686096},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.15494677424430847}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095225","descriptor_name":"East Asian People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053339","descriptor_name":"Edar Receptor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053358","descriptor_name":"Ectodermal Dysplasia 1, Anhidrotic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":1,"locations":[{"id":"pmid:37550046","doi":"https://doi.org/10.3760/cma.j.cn112144-20230415-00158","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37550046","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2058440945","display_name":null,"funder_award_id":"H2022206246","funder_id":"https://openalex.org/F4320322163","funder_display_name":"Natural Science Foundation of Hebei Province"}],"funders":[{"id":"https://openalex.org/F4320322163","display_name":"Natural Science Foundation of Hebei Province","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3032090724","https://openalex.org/W792408099","https://openalex.org/W1510078280","https://openalex.org/W2104798983","https://openalex.org/W2028888696","https://openalex.org/W4379374610","https://openalex.org/W2787431541","https://openalex.org/W7109458557","https://openalex.org/W3087963772","https://openalex.org/W3088929716"],"abstract_inverted_index":{"\u672c\u6587\u62a5\u90531\u4f8b\u5c11\u6c57\u6027\u5916\u80da\u5c42\u53d1\u80b2\u4e0d\u826f\u5148\u8bc1\u8005\uff0c\u6536\u96c6\u5148\u8bc1\u8005\u3001\u6838\u5fc3\u5bb6\u7cfb\u53ca\u5bf9\u7167\u4eba\u5458\u5916\u5468\u8840\u8fdb\u884c\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff0c\u91c7\u7528Sanger\u6d4b\u5e8f\u53caTA\u514b\u9686\u6d4b\u5e8f\u9a8c\u8bc1\u7a81\u53d8\u4f4d\u70b9\u3002\u5bf9\u65b0\u53d1\u73b0\u7684\u5916\u5f02\u86cb\u767dA\u53d7\u4f53\uff08ectodysplasin-A":[0],"receptor\uff0cEDAR\uff09\u57fa\u56e0\u7a81\u53d8\u4f4d\u70b9\u8fdb\u884c\u81f4\u75c5\u6027\u5206\u6790\u3001\u5bb6\u7cfb\u5171\u5206\u79bb\u5206\u6790\u3001\u4fdd\u5b88\u6027\u5206\u6790\u4ee5\u53ca\u6784\u5efa\u7a81\u53d8\u524d\u540eEDAR\u86cb\u767d\u4e09\u7ef4\u7ed3\u6784\u3002\u7ed3\u679c\u663e\u793a\u5148\u8bc1\u8005\u643a\u5e261\u4e2a\u65b0\u7684EDAR\u57fa\u56e0\u79fb\u7801\u7a81\u53d8c.1093_1094insGCTCAGCTCCACGTACA\uff08p.N365fs*13\uff09\uff0c\u78b1\u57fa\u63d2\u5165\u540e\u9605\u8bfb\u6846\u53d1\u751f\u6539\u53d8\uff0c\u5bfc\u81f4\u7ec8\u6b62\u5bc6\u7801\u5b50\u63d0\u524d\u81f3\u7b2c377\u4f4d\uff0c\u5f62\u6210\u622a\u77ed\u7684EDAR\u86cb\u767d\u3002\u5148\u8bc1\u8005\u5f1f\u5f1f\u548c\u7236\u4eb2\u4e0e\u5148\u8bc1\u8005\u7a81\u53d8\u4e00\u81f4\uff0c\u5148\u8bc1\u8005\u6bcd\u4eb2\u6b63\u5e38\u3002\u5bf9\u8be5\u5bb6\u7cfb\u7684\u4e34\u5e8a\u53ca\u9057\u4f20\u8d44\u6599\u5206\u6790\u663e\u793a\uff0cEDAR":[1],"c.1093_1094insGCTCAGCTCCACGTACA\uff08p.N365fs*13\uff09\u662f\u5bfc\u81f4\u8be5\u5bb6\u7cfb\u60a3\u5c11\u6c57\u6027\u5916\u80da\u5c42\u53d1\u80b2\u4e0d\u826f\u7684\u4e3b\u8981\u539f\u56e0\u3002.":[2]},"counts_by_year":[],"updated_date":"2026-11-02T09:45:03.842371","created_date":"2023-08-09T00:00:00"}