<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0121-246X</journal-id>
<journal-title><![CDATA[Revista Facultad de Odontología Universidad de Antioquia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Fac Odontol Univ Antioq]]></abbrev-journal-title>
<issn>0121-246X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Antioquia ]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-246X2018000200105</article-id>
<article-id pub-id-type="doi">10.17533/udea.rfo.v30n1a10</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[GENES INVOLVED IN AMELOGENESIS IMPERFECTA. PART I]]></article-title>
<article-title xml:lang="es"><![CDATA[GENES INVOLUCRADOS EN LA AMELOGÉNESIS IMPERFECTA. PARTE I]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Simancas-Escorcia]]></surname>
<given-names><![CDATA[Víctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Natera]]></surname>
<given-names><![CDATA[Alfredo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta-de-Camargo]]></surname>
<given-names><![CDATA[María Gabriela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Cartagena  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Central de Venezuela  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Carabobo  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>30</volume>
<numero>1</numero>
<fpage>105</fpage>
<lpage>120</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-246X2018000200105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-246X2018000200105&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-246X2018000200105&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Amelogenesis imperfecta (AI) refers to a group of genetic alterations of the normal structure of the dental enamel that disturbs its clinical appearance. AI is classified as hypoplastic, hypocalcified, and hypomaturation. These abnormalities may exist in isolation or associated with other systemic conditions in the context of a syndrome. This article is aimed to thoroughly describe the genes involved in non-syndromic AI, the proteins encoded by these genes and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December of 2017, preselecting 1,573 articles, 63 of which were analyzed and discussed. The results indicated that mutations in 16 genes are responsible for non-syndromic AI: AMELX, AMBN, ENAM, LAMB3, LAMA3, ACPT, FAM83H, C4ORF26, SLC24A4, ITGB6, AMTN, MMP20, KLK4, WDR72, STIM1, GPR68. Future research with a translational approach will help to identify new mutations or genes, contributing to the evolution in the way of classifying, diagnosing and treating the various types of amelogenesis imperfecta.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La amelogénesis imperfecta (AI) constituye un grupo de alteraciones de la estructura normal del esmalte dental de origen genético que perturba su apariencia clínica. La AI se clasifica en hipoplásica, hipomadura e hipocalcificada. Estas anomalías pueden existir de manera aislada o asociada a otras afecciones sistémicas en el marco de un síndrome. En el presente artículo se pretende describir de manera detallada los genes involucrados en la AI no sindrómica, las proteínas codificas por estos genes y sus funciones, de acuerdo a la evidencia científica actual. Se realizó una búsqueda electrónica de literatura desde el año 2000 hasta diciembre de 2017, haciendo una preselección de 1573 artículos, de los cuales 63 fueron analizados y discutidos. Los resultados indicaron que las mutaciones en 16 genes son responsables de la AI no sindrómica: AMELX, AMBN, ENAM, LAMB3, LAMA3, ACPT, FAM83H, C4ORF26, SLC24A4, ITGB6, AMTN, MMP20, KLK4, WDR72, STIM1, GPR68. Las futuras investigaciones abordadas desde la visión translacional ayudarán a identificar nuevas mutaciones o nuevos genes, lo cual contribuirá a la evolución en la manera de clasificar, diagnosticar y tratar los diferentes tipos de amelogénesis imperfecta.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[amelogenesis imperfecta]]></kwd>
<kwd lng="en"><![CDATA[dental enamel]]></kwd>
<kwd lng="en"><![CDATA[dental enamel proteins]]></kwd>
<kwd lng="en"><![CDATA[dental esthetics]]></kwd>
<kwd lng="en"><![CDATA[genes]]></kwd>
<kwd lng="es"><![CDATA[amelogénesis imperfecta]]></kwd>
<kwd lng="es"><![CDATA[esmalte dental]]></kwd>
<kwd lng="es"><![CDATA[proteínas del esmalte dental]]></kwd>
<kwd lng="es"><![CDATA[estética dental]]></kwd>
<kwd lng="es"><![CDATA[genes]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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