Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel
Highlights • In this paper a missense mutation in exon 5 of FAM83H gene was identified for the first time. • The missense variant, p.Gly557Cys, is associated with amelogenesis imperfecta hypocalcified. • The amelogenesis imperfecta phenotype is less severe than that observed in other similar cases r...
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| Veröffentlicht in: | Archives of oral biology 2015-09, Vol.60 (9), p.1356-1367 |
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| container_title | Archives of oral biology |
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| creator | Urzúa, Blanca Martínez, Carolina Ortega-Pinto, Ana Adorno, Daniela Morales-Bozo, Irene Riadi, Gonzalo Jara, Lilian Plaza, Anita Lefimil, Claudia Lozano, Carla Reyes, Monserrat |
| description | Highlights • In this paper a missense mutation in exon 5 of FAM83H gene was identified for the first time. • The missense variant, p.Gly557Cys, is associated with amelogenesis imperfecta hypocalcified. • The amelogenesis imperfecta phenotype is less severe than that observed in other similar cases reported. • The affected enamel is formed by prisms altered at ultrastructural level. • The affected enamel retains proteins amelogenin type. |
| doi_str_mv | 10.1016/j.archoralbio.2015.06.016 |
| format | Article |
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All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-d805224d685f82804f4947769bbaba60362e59254fc188d5057a9ba626b5d4663</citedby><cites>FETCH-LOGICAL-c498t-d805224d685f82804f4947769bbaba60362e59254fc188d5057a9ba626b5d4663</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0003996915001545$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26142250$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Urzúa, Blanca</creatorcontrib><creatorcontrib>Martínez, Carolina</creatorcontrib><creatorcontrib>Ortega-Pinto, Ana</creatorcontrib><creatorcontrib>Adorno, Daniela</creatorcontrib><creatorcontrib>Morales-Bozo, Irene</creatorcontrib><creatorcontrib>Riadi, Gonzalo</creatorcontrib><creatorcontrib>Jara, Lilian</creatorcontrib><creatorcontrib>Plaza, Anita</creatorcontrib><creatorcontrib>Lefimil, Claudia</creatorcontrib><creatorcontrib>Lozano, Carla</creatorcontrib><creatorcontrib>Reyes, Monserrat</creatorcontrib><title>Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel</title><title>Archives of oral biology</title><addtitle>Arch Oral Biol</addtitle><description>Highlights • In this paper a missense mutation in exon 5 of FAM83H gene was identified for the first time. • The missense variant, p.Gly557Cys, is associated with amelogenesis imperfecta hypocalcified. • The amelogenesis imperfecta phenotype is less severe than that observed in other similar cases reported. • The affected enamel is formed by prisms altered at ultrastructural level. • The affected enamel retains proteins amelogenin type.</description><subject>Advanced Basic Science</subject><subject>Amelogenesis</subject><subject>Amelogenesis Imperfecta - genetics</subject><subject>Amelogenin - genetics</subject><subject>Amelogenin retention</subject><subject>Chile</subject><subject>Dentistry</subject><subject>Exons</subject><subject>FAM83H gene</subject><subject>Female</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Male</subject><subject>Microscopy, Electron, Scanning</subject><subject>Mild phenotype</subject><subject>Missense mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Proteins - genetics</subject><issn>0003-9969</issn><issn>1879-1506</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNUs-P1CAUJkbjjqv_gsGbl1agQMvFZDNx3U1WPahnQuHVYexAhXaTOfmvSzM7G-PJE3l8P17elw-hN5TUlFD5bl-bZHcxmbH3sWaEiprIuiBP0IZ2raqoIPIp2hBCmkopqS7Qi5z3ZRRS0ufogknKGRNkg35_jvcw4oPPGUIGfFhmM_sYcBzwvAN8ffWpa27wDwiArVkyZJxghnDmmAOMsaA-YBMcNsVpdNiOPnhrRjztIMT5OMHK3R2nWD6tHzw4DGHVvkTPBjNmePXwXqLv1x--bW-quy8fb7dXd5Xlqpsr1xHBGHeyE0PHOsIHrnjbStX3pjeSNJKBUEzwwdKuc4KI1qgCMNkLx6VsLtHbk--U4q8F8qzLyRbG0QSIS9a0JbwRjZSqUNWJalPMOcGgp-QPJh01JXrNX-_1X_nrNX9NpC5I0b5-WLP0B3CPynPghbA9EaAce-8h6Ww9BAvOJ7CzdtH_15r3_7icE_8JR8j7uKRQ0tRUZ6aJ_roWYe1B6UVx4aL5A9PZscg</recordid><startdate>20150901</startdate><enddate>20150901</enddate><creator>Urzúa, Blanca</creator><creator>Martínez, Carolina</creator><creator>Ortega-Pinto, Ana</creator><creator>Adorno, Daniela</creator><creator>Morales-Bozo, Irene</creator><creator>Riadi, Gonzalo</creator><creator>Jara, Lilian</creator><creator>Plaza, Anita</creator><creator>Lefimil, Claudia</creator><creator>Lozano, Carla</creator><creator>Reyes, Monserrat</creator><general>Elsevier Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20150901</creationdate><title>Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel</title><author>Urzúa, Blanca ; Martínez, Carolina ; Ortega-Pinto, Ana ; Adorno, Daniela ; Morales-Bozo, Irene ; Riadi, Gonzalo ; Jara, Lilian ; Plaza, Anita ; Lefimil, Claudia ; Lozano, Carla ; Reyes, Monserrat</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-d805224d685f82804f4947769bbaba60362e59254fc188d5057a9ba626b5d4663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Advanced Basic Science</topic><topic>Amelogenesis</topic><topic>Amelogenesis Imperfecta - genetics</topic><topic>Amelogenin - genetics</topic><topic>Amelogenin retention</topic><topic>Chile</topic><topic>Dentistry</topic><topic>Exons</topic><topic>FAM83H gene</topic><topic>Female</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Male</topic><topic>Microscopy, Electron, Scanning</topic><topic>Mild phenotype</topic><topic>Missense mutation</topic><topic>Mutation, Missense - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Proteins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Urzúa, Blanca</creatorcontrib><creatorcontrib>Martínez, Carolina</creatorcontrib><creatorcontrib>Ortega-Pinto, Ana</creatorcontrib><creatorcontrib>Adorno, Daniela</creatorcontrib><creatorcontrib>Morales-Bozo, Irene</creatorcontrib><creatorcontrib>Riadi, Gonzalo</creatorcontrib><creatorcontrib>Jara, Lilian</creatorcontrib><creatorcontrib>Plaza, Anita</creatorcontrib><creatorcontrib>Lefimil, Claudia</creatorcontrib><creatorcontrib>Lozano, Carla</creatorcontrib><creatorcontrib>Reyes, Monserrat</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Archives of oral biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Urzúa, Blanca</au><au>Martínez, Carolina</au><au>Ortega-Pinto, Ana</au><au>Adorno, Daniela</au><au>Morales-Bozo, Irene</au><au>Riadi, Gonzalo</au><au>Jara, Lilian</au><au>Plaza, Anita</au><au>Lefimil, Claudia</au><au>Lozano, Carla</au><au>Reyes, Monserrat</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel</atitle><jtitle>Archives of oral biology</jtitle><addtitle>Arch Oral Biol</addtitle><date>2015-09-01</date><risdate>2015</risdate><volume>60</volume><issue>9</issue><spage>1356</spage><epage>1367</epage><pages>1356-1367</pages><issn>0003-9969</issn><eissn>1879-1506</eissn><abstract>Highlights • In this paper a missense mutation in exon 5 of FAM83H gene was identified for the first time. • The missense variant, p.Gly557Cys, is associated with amelogenesis imperfecta hypocalcified. • The amelogenesis imperfecta phenotype is less severe than that observed in other similar cases reported. • The affected enamel is formed by prisms altered at ultrastructural level. • The affected enamel retains proteins amelogenin type.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>26142250</pmid><doi>10.1016/j.archoralbio.2015.06.016</doi><tpages>12</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Advanced Basic Science Amelogenesis Amelogenesis Imperfecta - genetics Amelogenin - genetics Amelogenin retention Chile Dentistry Exons FAM83H gene Female Humans Immunohistochemistry Male Microscopy, Electron, Scanning Mild phenotype Missense mutation Mutation, Missense - genetics Pedigree Phenotype Proteins - genetics |
| title | Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel |
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