Please use this identifier to cite or link to this item: http://cmuir.cmu.ac.th/jspui/handle/6653943832/67617
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dc.contributor.authorLord J.J. Gowansen_US
dc.contributor.authorSophia Cameron-Christieen_US
dc.contributor.authorRebecca L. Slaytonen_US
dc.contributor.authorTamara Buschen_US
dc.contributor.authorMiguel Romero-Bustillosen_US
dc.contributor.authorSteven Eliasonen_US
dc.contributor.authorMason Sweaten_US
dc.contributor.authorNara Sobreiraen_US
dc.contributor.authorWenjie Yuen_US
dc.contributor.authorPiranit N. Kantaputraen_US
dc.contributor.authorElizabeth Wohleren_US
dc.contributor.authorWasiu Lanre Adeyemoen_US
dc.contributor.authorSalil A. Lachkeen_US
dc.contributor.authorDeepti Ananden_US
dc.contributor.authorCollen Campbellen_US
dc.contributor.authorBernadette K. Drummonden_US
dc.contributor.authorDavid M. Markieen_US
dc.contributor.authorW. Jansen van Vuurenen_US
dc.contributor.authorL. Jansen van Vuurenen_US
dc.contributor.authorPaul S. Casamassimoen_US
dc.contributor.authorRonald Ettingeren_US
dc.contributor.authorArwa Owaisen_US
dc.contributor.authorI. van Stadenen_US
dc.contributor.authorBrad A. Amendten_US
dc.contributor.authorAdebowale A. Adeyemoen_US
dc.contributor.authorJeffrey C. Murrayen_US
dc.contributor.authorStephen P. Robertsonen_US
dc.contributor.authorAzeez Butalien_US
dc.date.accessioned2020-04-02T14:56:41Z-
dc.date.available2020-04-02T14:56:41Z-
dc.date.issued2019-09-20en_US
dc.identifier.issn16648021en_US
dc.identifier.other2-s2.0-85073031378en_US
dc.identifier.other10.3389/fgene.2019.00800en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85073031378&origin=inwarden_US
dc.identifier.urihttp://cmuir.cmu.ac.th/jspui/handle/6653943832/67617-
dc.description.abstract© Copyright © 2019 Gowans, Cameron-Christie, Slayton, Busch, Romero-Bustillos, Eliason, Sweat, Sobreira, Yu, Kantaputra, Wohler, Adeyemo, Lachke, Anand, Campbell, Drummond, Markie, van Vuuren, van Vuuren, Casamassimo, Ettinger, Owais, van Staden, Amendt, Adeyemo, Murray, Robertson and Butali. The etiology of dental anomalies is multifactorial; and genetic and environmental factors that affect the dental lamina have been implicated. We investigated two families of European ancestry in which males were affected by taurodontism, microdontia and dens invaginatus. In both families, males were related to each other via unaffected females. A linkage analysis was conducted in a New Zealand family, followed by exome sequencing and focused analysis of the X-chromosome. In a US family, exome sequencing of the X-chromosome was followed by Sanger sequencing to conduct segregation analyses. We identified two independent missense variants in KIF4A that segregate in affected males and female carriers. The variant in a New Zealand family (p.Asp371His) predicts the substitution of a residue in the motor domain of the protein while the one in a US family (p.Arg771Lys) predicts the substitution of a residue in the domain that interacts with Protein Regulator of Cytokinesis 1 (PRC1). We demonstrated that the gene is expressed in the developing tooth bud during development, and that the p.Arg771Lys variant influences cell migration in an in vitro assay. These data implicate missense variations in KIF4A in a pathogenic mechanism that causes taurodontism, microdontia and dens invaginatus phenotypes.en_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.subjectMedicineen_US
dc.titleMissense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatusen_US
dc.typeJournalen_US
article.title.sourcetitleFrontiers in Geneticsen_US
article.volume10en_US
article.stream.affiliationsKwame Nkrumah University of Science and Technologyen_US
article.stream.affiliationsUniversity of Iowaen_US
article.stream.affiliationsUniversity of Delawareen_US
article.stream.affiliationsUniversity of Otagoen_US
article.stream.affiliationsUniversity of Washington, Seattleen_US
article.stream.affiliationsDunedin School of Medicineen_US
article.stream.affiliationsUniversity of Lagosen_US
article.stream.affiliationsUniversity of Iowa College of Dentistryen_US
article.stream.affiliationsUniversity of Iowa Healthcareen_US
article.stream.affiliationsJohns Hopkins Universityen_US
article.stream.affiliationsThe Ohio State Universityen_US
article.stream.affiliationsChildren's Hospital of Iowaen_US
article.stream.affiliationsChiang Mai Universityen_US
article.stream.affiliationsNational Human Genomic Research Instituteen_US
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