{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T04:05:55Z","timestamp":1793419555105,"version":"4.5.0"},"reference-count":48,"publisher":"Public Library of Science (PLoS)","issue":"1","license":[{"start":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:00:00Z","timestamp":1578441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1000505"],"award-info":[{"award-number":["2016YFC1000505"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Key Research Program of Provincial Department of Science and Technology","award":["2017ACA181"],"award-info":[{"award-number":["2017ACA181"]}]},{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["2017CFB212"],"award-info":[{"award-number":["2017CFB212"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0227287","type":"journal-article","created":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T18:31:02Z","timestamp":1578508262000},"page":"e0227287","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":11,"title":["Two novel mutations in MSX1 causing oligodontia"],"prefix":"10.1371","volume":"15","author":[{"given":"Le","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitang","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8035-4276","authenticated-orcid":true,"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2020,1,8]]},"reference":[{"issue":"3","key":"pone.0227287.ref001","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1111\/j.1600-0528.2004.00158.x","article-title":"A meta-analysis of the prevalence of dental agenesis of permanent teeth","volume":"32","author":"BJ Polder","year":"2004","journal-title":"Community Dent Oral Epidemiol"},{"issue":"4","key":"pone.0227287.ref002","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/jez.b.21277","article-title":"Genetic basis of tooth agenesis","volume":"312B","author":"P. Nieminen","year":"2009","journal-title":"J Exp Zool B Mol Dev Evol"},{"issue":"1","key":"pone.0227287.ref003","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1086\/321271","article-title":"A nonsense mutation in MSX1 causes Witkop syndrome","volume":"69","author":"D Jumlongras","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"5","key":"pone.0227287.ref004","first-page":"851","article-title":"Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome","volume":"16","author":"XQ Ye","year":"2005","journal-title":"Int J Mol Med"},{"issue":"6","key":"pone.0227287.ref005","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1177\/154405910608500612","article-title":"MSX1 and orofacial clefting with and without tooth agenesis","volume":"85","author":"A Modesto","year":"2006","journal-title":"J Dent Res"},{"issue":"4","key":"pone.0227287.ref006","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/74155","article-title":"MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans","volume":"24","author":"MJ van den Boogaard","year":"2000","journal-title":"Nat Genet"},{"issue":"5","key":"pone.0227287.ref007","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.ejmg.2008.05.003","article-title":"The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement","volume":"51","author":"I Bailleul-Forestier","year":"2008","journal-title":"Eur J Med Genet"},{"issue":"4","key":"pone.0227287.ref008","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1111\/j.1600-0722.2012.00965.x","article-title":"Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family","volume":"120","author":"J Liang","year":"2012","journal-title":"Eur J Oral Sci"},{"issue":"7","key":"pone.0227287.ref009","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1177\/00220345000790070701","article-title":"Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia","volume":"79","author":"M Goldenberg","year":"2000","journal-title":"J Dent Res"},{"issue":"8","key":"pone.0227287.ref010","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1136\/jmg.38.8.551","article-title":"Recessively inherited lower incisor hypodontia","volume":"38","author":"S Pirinen","year":"2001","journal-title":"J Med Genet"},{"issue":"1","key":"pone.0227287.ref011","first-page":"95","article-title":"Classification and genetics of numeric anomalies of dentition","volume":"19","author":"NJ Burzynski","year":"1983","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"10","key":"pone.0227287.ref012","doi-asserted-by":"crossref","first-page":"2570","DOI":"10.1002\/1097-0142(19871115)60:10<2570::AID-CNCR2820601037>3.0.CO;2-Q","article-title":"The long-term effects of treatment on the dental condition of children surviving malignant disease","volume":"60","author":"A Maguire","year":"1987","journal-title":"Cancer"},{"issue":"2","key":"pone.0227287.ref013","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1093\/ejo\/19.2.151","article-title":"Long-term dental development in children after treatment for malignant disease","volume":"19","author":"M Nasman","year":"1997","journal-title":"Eur J Orthod"},{"issue":"1","key":"pone.0227287.ref014","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.ajhg.2016.05.012","article-title":"Mutations in WNT10B Are Identified in Individuals with Oligodontia","volume":"99","author":"P Yu","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"4","key":"pone.0227287.ref015","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.ajhg.2015.08.014","article-title":"Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia","volume":"97","author":"MP Massink","year":"2015","journal-title":"Am J Hum Genet"},{"issue":"5","key":"pone.0227287.ref016","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/jmedgenet-2012-100750","article-title":"Mutations in WNT10A are present in more than half of isolated hypodontia cases","volume":"49","author":"MJ van den Boogaard","year":"2012","journal-title":"J Med Genet"},{"issue":"1","key":"pone.0227287.ref017","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/71634","article-title":"Mutation of PAX9 is associated with oligodontia","volume":"24","author":"DW Stockton","year":"2000","journal-title":"Nat Genet"},{"issue":"5","key":"pone.0227287.ref018","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1007\/s10038-006-0389-2","article-title":"A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia","volume":"51","author":"R Tao","year":"2006","journal-title":"J Hum Genet"},{"issue":"4","key":"pone.0227287.ref019","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/ng0896-417","article-title":"A human MSX1 homeodomain missense mutation causes selective tooth agenesis","volume":"13","author":"H Vastardis","year":"1996","journal-title":"Nat Genet"},{"issue":"5","key":"pone.0227287.ref020","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1086\/386293","article-title":"Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer","volume":"74","author":"L Lammi","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"3","key":"pone.0227287.ref021","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20295","article-title":"Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia","volume":"27","author":"N Chassaing","year":"2006","journal-title":"Hum Mutat"},{"issue":"7","key":"pone.0227287.ref022","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1002\/ajmg.a.34045","article-title":"Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes","volume":"155A","author":"B Bergendal","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"7","key":"pone.0227287.ref023","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1177\/154405910808700715","article-title":"Tooth agenesis: from molecular genetics to molecular dentistry","volume":"87","author":"E Matalova","year":"2008","journal-title":"J Dent Res"},{"issue":"8","key":"pone.0227287.ref024","doi-asserted-by":"crossref","first-page":"e73705","DOI":"10.1371\/journal.pone.0073705","article-title":"Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations","volume":"8","author":"S Arte","year":"2013","journal-title":"PLoS One"},{"issue":"3","key":"pone.0227287.ref025","first-page":"131","article-title":"Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review","volume":"38","author":"A Hlouskova","year":"2017","journal-title":"Neuro Endocrinol Lett"},{"issue":"1","key":"pone.0227287.ref026","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/eos.12391","article-title":"Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series","volume":"126","author":"M Haddaji Mastouri","year":"2018","journal-title":"Eur J Oral Sci"},{"issue":"1","key":"pone.0227287.ref027","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.ydbio.2007.10.016","article-title":"Wnt\/beta-catenin signaling directs multiple stages of tooth morphogenesis","volume":"313","author":"F Liu","year":"2008","journal-title":"Dev Biol"},{"issue":"12","key":"pone.0227287.ref028","doi-asserted-by":"crossref","first-page":"1306","DOI":"10.1177\/0022034518777460","article-title":"Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes","volume":"97","author":"BP Fournier","year":"2018","journal-title":"J Dent Res"},{"issue":"11","key":"pone.0227287.ref029","doi-asserted-by":"crossref","first-page":"4107","DOI":"10.1007\/s00784-019-02849-5","article-title":"Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation","volume":"23","author":"S Koskinen","year":"2019","journal-title":"Clin Oral Investig"},{"issue":"4","key":"pone.0227287.ref030","first-page":"229","article-title":"Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia","volume":"18","author":"XX Zhang","year":"2015","journal-title":"Chin J Dent Res"},{"issue":"5","key":"pone.0227287.ref031","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1111\/j.1600-0722.2008.00555.x","article-title":"Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds","volume":"116","author":"H Fan","year":"2008","journal-title":"Eur J Oral Sci"},{"issue":"40","key":"pone.0227287.ref032","doi-asserted-by":"crossref","first-page":"12013","DOI":"10.1021\/bi0108148","article-title":"Crystal structure of the Msx-1 homeodomain\/DNA complex","volume":"40","author":"S Hovde","year":"2001","journal-title":"Biochemistry"},{"issue":"15","key":"pone.0227287.ref033","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"N Guex","year":"1997","journal-title":"Electrophoresis"},{"issue":"23","key":"pone.0227287.ref034","doi-asserted-by":"crossref","first-page":"2530","DOI":"10.1002\/ajmg.a.31360","article-title":"The genetic basis of tooth development and dental defects","volume":"140","author":"I. Thesleff","year":"2006","journal-title":"Am J Med Genet A"},{"issue":"18","key":"pone.0227287.ref035","doi-asserted-by":"crossref","first-page":"8373","DOI":"10.1073\/pnas.91.18.8373","article-title":"Design of a \"minimAl\" homeodomain: the N-terminal arm modulates DNA binding affinity and stabilizes homeodomain structure","volume":"91","author":"Z Shang","year":"1994","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"21","key":"pone.0227287.ref036","doi-asserted-by":"crossref","first-page":"7127","DOI":"10.1021\/bi00021a026","article-title":"Multiple amino acids determine the DNA binding specificity of the Msx-1 homeodomain","volume":"34","author":"VE Isaac","year":"1995","journal-title":"Biochemistry"},{"issue":"2","key":"pone.0227287.ref037","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1128\/MCB.15.2.861","article-title":"Transcriptional repression by Msx-1 does not require homeodomain DNA-binding sites","volume":"15","author":"KM Catron","year":"1995","journal-title":"Mol Cell Biol"},{"issue":"5","key":"pone.0227287.ref038","doi-asserted-by":"crossref","first-page":"1764","DOI":"10.1073\/pnas.93.5.1764","article-title":"A role for the Msx-1 homeodomain in transcriptional regulation: residues in the N-terminal arm mediate TATA binding protein interaction and transcriptional repression","volume":"93","author":"H Zhang","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"pone.0227287.ref039","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1186\/s13287-018-0965-3","article-title":"A novel mutation of MSX1 in oligodontia inhibits odontogenesis of dental pulp stem cells via the ERK pathway","volume":"9","author":"T Xin","year":"2018","journal-title":"Stem Cell Res Ther"},{"issue":"3","key":"pone.0227287.ref040","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/S1359-0278(96)00029-6","article-title":"Analysis of the effect of local interactions on protein stability","volume":"1","author":"V Munoz","year":"1996","journal-title":"Fold Des"},{"issue":"8","key":"pone.0227287.ref041","doi-asserted-by":"crossref","first-page":"2600","DOI":"10.1073\/pnas.0508121103","article-title":"Conserved thermodynamic contributions of backbone hydrogen bonds in a protein fold","volume":"103","author":"M Wang","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"pone.0227287.ref042","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"PD Stenson","year":"2017","journal-title":"Hum Genet"},{"issue":"8","key":"pone.0227287.ref043","doi-asserted-by":"crossref","first-page":"e102944","DOI":"10.1371\/journal.pone.0102944","article-title":"Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis","volume":"9","author":"S Yamaguchi","year":"2014","journal-title":"PLoS One"},{"issue":"6","key":"pone.0227287.ref044","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.archoralbio.2012.01.003","article-title":"Novel MSX1 mutation in a family with autosomal-dominant hypodontia of second premolars and third molars","volume":"57","author":"A Mostowska","year":"2012","journal-title":"Arch Oral Biol"},{"issue":"10","key":"pone.0227287.ref045","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1007\/s10038-006-0037-x","article-title":"A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families","volume":"51","author":"MS Chishti","year":"2006","journal-title":"J Hum Genet"},{"issue":"8","key":"pone.0227287.ref046","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/j.archoralbio.2008.02.012","article-title":"Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia","volume":"53","author":"K Xuan","year":"2008","journal-title":"Arch Oral Biol"},{"issue":"41","key":"pone.0227287.ref047","doi-asserted-by":"crossref","first-page":"7766","DOI":"10.1002\/anie.200702218","article-title":"Amide-to-ester substitution in coiled coils: the effect of removing hydrogen bonds on protein structure","volume":"46","author":"JA Scheike","year":"2007","journal-title":"Angew Chem Int Ed Engl"},{"issue":"5","key":"pone.0227287.ref048","doi-asserted-by":"crossref","first-page":"2920","DOI":"10.1128\/MCB.17.5.2920","article-title":"Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism","volume":"17","author":"H Zhang","year":"1997","journal-title":"Mol Cell Biol"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0227287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T21:45:23Z","timestamp":1722289523000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0227287"}},"subtitle":[],"editor":[{"given":"Tao","family":"Cai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2020,1,8]]},"references-count":48,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,8]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0227287","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,8]]}}}