{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:29:51Z","timestamp":1789518591327,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:00:00Z","timestamp":1668556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["108\u20102314\u2010B\u2010002\u2010038\u2010MY3"],"award-info":[{"award-number":["108\u20102314\u2010B\u2010002\u2010038\u2010MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R56DE015846"],"award-info":[{"award-number":["R56DE015846"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["110\u2010N4809"],"award-info":[{"award-number":["110\u2010N4809"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Amelogenesis imperfecta (AI) is defined as inherited enamel malformations.\n                      <jats:italic>LAMA3<\/jats:italic>\n                      (laminin alpha\u20103) encodes a critical protein component of the basement membrane (laminin\u2010332). Individuals carrying heterozygous\n                      <jats:italic>LAMA3<\/jats:italic>\n                      mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome analyses were conducted to search for sequence variants associated with the disorder, and micro\u2010computed tomography (\u03bcCT) to characterize the enamel defects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky\u2010white discoloration and enamel hypomineralization were also observed and demonstrated by \u03bcCT analyses of affected teeth. Four disease\u2010causing\n                      <jats:italic>LAMA3<\/jats:italic>\n                      mutations (NM_198129.4:c.3712dup; c.5891dup; c.7367del; c.9400G\u2009&gt;\u2009C) were identified. Compound heterozygous\n                      <jats:italic>MMP20<\/jats:italic>\n                      mutations (NM_004771.4:c.539A\u2009&gt;\u2009G; c.692C\u2009&gt;\u2009T) were also found in one proband with more severe enamel defects, suggesting a mutational synergism on disease phenotypes. Further analyses of the AI\u2010causing mutations suggested that both \u03b13A (short) and \u03b13B (long) isoforms of LAMA3 are essential for enamel formation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Heterozygous\n                      <jats:italic>LAMA3<\/jats:italic>\n                      mutations can cause generalized enamel defects (AI1A) with variable expressivity. Laminin\u2010332 is critical not only for appositional growth but also enamel maturation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14425","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T09:28:51Z","timestamp":1667467731000},"page":"3514-3524","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Phenotypic variability in\n                    <i>LAMA3<\/i>\n                    \u2010associated amelogenesis imperfecta"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8378-5880","authenticated-orcid":false,"given":"Shih\u2010Kai","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dentistry National Taiwan University School of Dentistry  Taipei City Taiwan"},{"name":"Department of Pediatric Dentistry National Taiwan University Children's Hospital  Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin\u2010Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dentistry National Taiwan University School of Dentistry  Taipei City Taiwan"},{"name":"Department of Pediatric Dentistry National Taiwan University Children's Hospital  Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Figen","family":"Seymen","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry, Altinbas University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mine","family":"Koruyucu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Simmer","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan C.\u2010C.","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw346"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11111217"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2017.07.013"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010019\u20101793\u2010z"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.136"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.052811"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000102683"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102308\u20107"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034513502054"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400314"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13487"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0003\u20109969(00)00003\u20100"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034518763152"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1069"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.40.23496"},{"issue":"6","key":"e_1_2_9_19_1","first-page":"1787","article-title":"Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition","volume":"148","author":"McGrath J. 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