{"id":"https://openalex.org/W2489147993","doi":"https://doi.org/10.1016/j.cca.2016.07.025","title":"A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree","display_name":"A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree","publication_year":2016,"publication_date":"2016-07-31","ids":{"openalex":"https://openalex.org/W2489147993","doi":"https://doi.org/10.1016/j.cca.2016.07.025","mag":"2489147993","pmid":"https://pubmed.ncbi.nlm.nih.gov/27485761"},"language":"en","primary_location":{"id":"doi:10.1016/j.cca.2016.07.025","doi":"https://doi.org/10.1016/j.cca.2016.07.025","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2016.07.025","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109321630","display_name":"Jinjie Xue","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210147627","display_name":"Shanxi Provincial Children's Hospital","ror":"https://ror.org/042ry7b85","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210147627"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jinjie Xue","raw_affiliation_strings":["State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China; Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China; Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","institution_ids":["https://openalex.org/I139660479"]},{"raw_affiliation_string":"Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","institution_ids":["https://openalex.org/I4210147627"]},{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081027441","display_name":"Qingping Gao","orcid":"https://orcid.org/0000-0003-0488-3130","observed_orcids":["https://orcid.org/0000-0003-0488-3130"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qingping Gao","raw_affiliation_strings":["Department of Stomatology, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Stomatology, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101075119","display_name":"Yanru Huang","orcid":"https://orcid.org/0000-0002-6994-0928","observed_orcids":["https://orcid.org/0000-0002-6994-0928"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanru Huang","raw_affiliation_strings":["State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xiaoyu Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoyu Zhang","raw_affiliation_strings":["Department of Stomatology, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Stomatology, Xiangya Hospital, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084548257","display_name":"Pu Yang","orcid":"https://orcid.org/0000-0002-8783-5136","observed_orcids":["https://orcid.org/0000-0002-8783-5136","https://orcid.org/0009-0000-5580-264X"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Pu Yang","raw_affiliation_strings":["State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064530813","display_name":"David Stephen Cram","orcid":"https://orcid.org/0000-0002-2587-2476","observed_orcids":["https://orcid.org/0000-0002-2587-2476"]},"institutions":[{"id":"https://openalex.org/I4210147627","display_name":"Shanxi Provincial Children's Hospital","ror":"https://ror.org/042ry7b85","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210147627"]},{"id":"https://openalex.org/I56590836","display_name":"Monash University","ror":"https://ror.org/02bfwt286","country_code":"AU","type":"education","lineage":["https://openalex.org/I56590836"]}],"countries":["AU","CN"],"is_corresponding":false,"raw_author_name":"David S. Cram","raw_affiliation_strings":["Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China; Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia","Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China; Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia","institution_ids":["https://openalex.org/I56590836"]},{"raw_affiliation_string":"Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi 030013, China","institution_ids":["https://openalex.org/I4210147627"]},{"raw_affiliation_string":"Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia","institution_ids":["https://openalex.org/I56590836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003614330","display_name":"Desheng Liang","orcid":"https://orcid.org/0000-0002-9451-8585","observed_orcids":["https://orcid.org/0000-0002-9451-8585","https://orcid.org/0000-0001-6010-6139"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Desheng Liang","raw_affiliation_strings":["State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061090517","display_name":"Lingqian Wu","orcid":"https://orcid.org/0000-0002-7070-5896","observed_orcids":["https://orcid.org/0000-0002-7070-5896"]},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Lingqian Wu","raw_affiliation_strings":["State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China. Electronic address: wulingqian@sklmg.edu.cn","State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China. Electronic address: wulingqian@sklmg.edu.cn","institution_ids":["https://openalex.org/I139660479"]},{"raw_affiliation_string":"State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, China","institution_ids":["https://openalex.org/I139660479"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5061090517"],"corresponding_institution_ids":["https://openalex.org/I139660479"],"apc_list":{"value":3550,"currency":"USD","value_usd":3550},"apc_paid":null,"fwci":0.8664,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.71772015,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"461","issue":null,"first_page":"135","last_page":"140"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":1.0,"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":1.0,"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/T12110","display_name":"Bone and Dental Protein Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T11167","display_name":"Hair Growth and Disorders","score":0.0,"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/msx1","display_name":"MSX1","score":0.9789999723434448},{"id":"https://openalex.org/keywords/intronic-variants","display_name":"intronic variants","score":0.9200000166893005},{"id":"https://openalex.org/keywords/oligodontia","display_name":"oligodontia","score":0.8740000128746033},{"id":"https://openalex.org/keywords/tooth-agenesis","display_name":"tooth agenesis","score":0.9139999747276306},{"id":"https://openalex.org/keywords/tooth-development","display_name":"tooth development","score":0.5540000200271606},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.628000020980835},{"id":"https://openalex.org/keywords/variable-expressivity","display_name":"variable expressivity","score":0.6949999928474426}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8136496543884277},{"id":"https://openalex.org/C2911012909","wikidata":"https://www.wikidata.org/wiki/Q1549421","display_name":"Oligodontia","level":2,"score":0.7870847582817078},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.764331042766571},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5895947217941284},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.553713858127594},{"id":"https://openalex.org/C2779385247","wikidata":"https://www.wikidata.org/wiki/Q1549421","display_name":"Hypodontia","level":2,"score":0.5498676896095276},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.546930730342865},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44290757179260254},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.41767388582229614},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3959260582923889},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.22657451033592224},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.08101996779441833},{"id":"https://openalex.org/C199343813","wikidata":"https://www.wikidata.org/wiki/Q12128","display_name":"Dentistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000848","descriptor_name":"Anodontia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D007438","descriptor_name":"Introns","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051957","descriptor_name":"MSX1 Transcription Factor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.cca.2016.07.025","doi":"https://doi.org/10.1016/j.cca.2016.07.025","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.cca.2016.07.025","pdf_url":null,"source":{"id":"https://openalex.org/S207549998","display_name":"Clinica Chimica Acta","issn_l":"0009-8981","issn":["0009-8981","1873-3492"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinica Chimica Acta","raw_type":"journal-article"},{"id":"pmid:27485761","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/27485761","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":"Clinica chimica acta; international journal of clinical chemistry","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4891841810","display_name":null,"funder_award_id":"81200875","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W627388106","https://openalex.org/W1810162477","https://openalex.org/W1969588574","https://openalex.org/W1979014615","https://openalex.org/W2009234651","https://openalex.org/W2017189570","https://openalex.org/W2017279667","https://openalex.org/W2021402727","https://openalex.org/W2031394311","https://openalex.org/W2038525790","https://openalex.org/W2057972383","https://openalex.org/W2065597789","https://openalex.org/W2066194444","https://openalex.org/W2073950645","https://openalex.org/W2075270383","https://openalex.org/W2078198923","https://openalex.org/W2082493066","https://openalex.org/W2093603231","https://openalex.org/W2097171373","https://openalex.org/W2103633350","https://openalex.org/W2124390929","https://openalex.org/W2137231843","https://openalex.org/W2147183806","https://openalex.org/W2150133795","https://openalex.org/W2150184315","https://openalex.org/W2163111486","https://openalex.org/W2164256125","https://openalex.org/W2169889764","https://openalex.org/W2172122920","https://openalex.org/W2395008574","https://openalex.org/W6674637793","https://openalex.org/W6712436233"],"related_works":["https://openalex.org/W2017189570","https://openalex.org/W2124390929","https://openalex.org/W2890800666","https://openalex.org/W2078198923","https://openalex.org/W1996257336","https://openalex.org/W1979014615","https://openalex.org/W627388106","https://openalex.org/W7147431960","https://openalex.org/W2103633350","https://openalex.org/W6940942791"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-08-23T00:00:00"}