{"id":"https://openalex.org/W2013677940","doi":"https://doi.org/10.1371/journal.pgen.1003302","title":"FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)","display_name":"FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)","publication_year":2013,"publication_date":"2013-02-28","ids":{"openalex":"https://openalex.org/W2013677940","doi":"https://doi.org/10.1371/journal.pgen.1003302","mag":"2013677940","pmid":"https://pubmed.ncbi.nlm.nih.gov/23468644","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3585120"},"language":"de","primary_location":{"id":"doi:10.1371/journal.pgen.1003302","doi":"https://doi.org/10.1371/journal.pgen.1003302","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003302","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003302&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003302&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5064400980","display_name":"Shih\u2010Kai Wang","orcid":"https://orcid.org/0000-0002-8378-5880","observed_orcids":["https://orcid.org/0000-0002-8378-5880"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shih-Kai Wang","raw_affiliation_strings":["Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA","Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","Oral Health Sciences Program, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, USA","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Oral Health Sciences Program, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111653902","display_name":"Parissa Aref","orcid":"https://orcid.org/0000-0003-4781-3220","observed_orcids":["https://orcid.org/0000-0003-4781-3220"]},"institutions":[{"id":"https://openalex.org/I70640408","display_name":"Tehran University of Medical Sciences","ror":"https://ror.org/01c4pz451","country_code":"IR","type":"education","lineage":["https://openalex.org/I70640408"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Parissa Aref","raw_affiliation_strings":["Tehran University of Medical Sciences, Tehran, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Tehran University of Medical Sciences, Tehran, Iran","institution_ids":["https://openalex.org/I70640408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080195294","display_name":"Yuanyuan Hu","orcid":"https://orcid.org/0000-0001-6788-702X","observed_orcids":["https://orcid.org/0000-0001-6788-702X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yuanyuan Hu","raw_affiliation_strings":["Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020242426","display_name":"Rachel N. Milkovich","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rachel N. Milkovich","raw_affiliation_strings":["Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056462829","display_name":"James P. Simmer","orcid":"https://orcid.org/0000-0002-7192-6105","observed_orcids":["https://orcid.org/0000-0002-7192-6105"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James P. Simmer","raw_affiliation_strings":["Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108501076","display_name":"Mohammad S. El-Khateeb","orcid":"https://orcid.org/0000-0002-9675-4426","observed_orcids":["https://orcid.org/0000-0002-9675-4426"]},"institutions":[{"id":"https://openalex.org/I4405263207","display_name":"National Center for Diabetes, Endocrinology and Genetic Diseases","ror":"https://ror.org/03x7rhv94","country_code":"JO","type":"healthcare","lineage":["https://openalex.org/I114972647","https://openalex.org/I4405263207"]}],"countries":["JO"],"is_corresponding":false,"raw_author_name":"Mohammad El-Khateeb","raw_affiliation_strings":["Molecular Genetics Laboratory, National Center for Diabetes, Endocrinology, and Genetics (NCDEG), Amman, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Genetics Laboratory, National Center for Diabetes, Endocrinology, and Genetics (NCDEG), Amman, Jordan","institution_ids":["https://openalex.org/I4405263207"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010921580","display_name":"Hinda Daggag","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263207","display_name":"National Center for Diabetes, Endocrinology and Genetic Diseases","ror":"https://ror.org/03x7rhv94","country_code":"JO","type":"healthcare","lineage":["https://openalex.org/I114972647","https://openalex.org/I4405263207"]}],"countries":["JO"],"is_corresponding":false,"raw_author_name":"Hinda Daggag","raw_affiliation_strings":["Molecular Genetics Laboratory, National Center for Diabetes, Endocrinology, and Genetics (NCDEG), Amman, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Genetics Laboratory, National Center for Diabetes, Endocrinology, and Genetics (NCDEG), Amman, Jordan","institution_ids":["https://openalex.org/I4405263207"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071658581","display_name":"Zaid H. Baqain","orcid":"https://orcid.org/0000-0002-2197-0810","observed_orcids":["https://orcid.org/0000-0002-2197-0810"]},"institutions":[{"id":"https://openalex.org/I114972647","display_name":"University of Jordan","ror":"https://ror.org/05k89ew48","country_code":"JO","type":"education","lineage":["https://openalex.org/I114972647"]}],"countries":["JO"],"is_corresponding":false,"raw_author_name":"Zaid H. Baqain","raw_affiliation_strings":["Faculty of Dentistry, The University of Jordan, Amman, Jordan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Dentistry, The University of Jordan, Amman, Jordan","institution_ids":["https://openalex.org/I114972647"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061357064","display_name":"Jan C.\u2010C. Hu","orcid":"https://orcid.org/0000-0002-9294-0248","observed_orcids":["https://orcid.org/0000-0002-9294-0248"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jan C-C. Hu","raw_affiliation_strings":["Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan, United States of America","institution_ids":["https://openalex.org/I27837315"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5061357064"],"corresponding_institution_ids":["https://openalex.org/I27837315"],"apc_list":{"value":3043,"currency":"USD","value_usd":3043},"apc_paid":{"value":3043,"currency":"USD","value_usd":3043},"fwci":14.7422,"has_fulltext":true,"cited_by_count":107,"citation_normalized_percentile":{"value":0.99526844,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"9","issue":"2","first_page":"e1003302","last_page":"e1003302"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12110","display_name":"Bone and Dental Protein Studies","score":0.027899999171495438,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13768","display_name":"Oral and gingival health research","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/3506","display_name":"Periodontics"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fam20a","display_name":"FAM20A","score":0.9739999771118164},{"id":"https://openalex.org/keywords/amelogenesis-imperfecta","display_name":"amelogenesis imperfecta","score":0.8090000152587891},{"id":"https://openalex.org/keywords/enamel-hypoplasia","display_name":"enamel hypoplasia","score":0.9850000143051147},{"id":"https://openalex.org/keywords/tooth-eruption-failure","display_name":"tooth eruption failure","score":0.6710000038146973},{"id":"https://openalex.org/keywords/nephrocalcinosis","display_name":"nephrocalcinosis","score":0.9900000095367432},{"id":"https://openalex.org/keywords/biomineralization","display_name":"biomineralization","score":0.7720000147819519},{"id":"https://openalex.org/keywords/recessive-mutations","display_name":"recessive mutations","score":0.8230000138282776},{"id":"https://openalex.org/keywords/ectopic-calcification","display_name":"ectopic calcification","score":0.6259999871253967},{"id":"https://openalex.org/keywords/root-resorption","display_name":"root resorption","score":0.5400000214576721},{"id":"https://openalex.org/keywords/hypercementosis","display_name":"hypercementosis","score":0.9639999866485596}],"concepts":[{"id":"https://openalex.org/C2781145721","wikidata":"https://www.wikidata.org/wiki/Q1527711","display_name":"Nephrocalcinosis","level":3,"score":0.8670212626457214},{"id":"https://openalex.org/C2780178515","wikidata":"https://www.wikidata.org/wiki/Q461854","display_name":"Amelogenesis imperfecta","level":3,"score":0.7149614691734314},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6603781580924988},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.588187038898468},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4655720889568329},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3862383961677551},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.33053600788116455},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3180733919143677},{"id":"https://openalex.org/C156887251","wikidata":"https://www.wikidata.org/wiki/Q2386424","display_name":"Enamel paint","level":2,"score":0.30897608399391174},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.29701298475265503},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.2848294675350189},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.28191137313842773},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2768409848213196},{"id":"https://openalex.org/C199343813","wikidata":"https://www.wikidata.org/wiki/Q12128","display_name":"Dentistry","level":1,"score":0.16639095544815063},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13710305094718933}],"mesh":[{"descriptor_ui":"D000567","descriptor_name":"Amelogenesis Imperfecta","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000567","descriptor_name":"Amelogenesis Imperfecta","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000567","descriptor_name":"Amelogenesis Imperfecta","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D000567","descriptor_name":"Amelogenesis Imperfecta","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002114","descriptor_name":"Calcinosis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003743","descriptor_name":"Dental Enamel","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003743","descriptor_name":"Dental Enamel","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003746","descriptor_name":"Dental Enamel Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D003746","descriptor_name":"Dental Enamel Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003746","descriptor_name":"Dental Enamel Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005351","descriptor_name":"Fibromatosis, Gingival","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005351","descriptor_name":"Fibromatosis, Gingival","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005351","descriptor_name":"Fibromatosis, Gingival","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D006056","descriptor_name":"Golgi Apparatus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006056","descriptor_name":"Golgi Apparatus","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009397","descriptor_name":"Nephrocalcinosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009397","descriptor_name":"Nephrocalcinosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009397","descriptor_name":"Nephrocalcinosis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010770","descriptor_name":"Phosphotransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010770","descriptor_name":"Phosphotransferases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1371/journal.pgen.1003302","doi":"https://doi.org/10.1371/journal.pgen.1003302","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003302","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003302&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2589240","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3585120","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:23468644","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23468644","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3585120","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3585120/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genet","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.796.9664","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.796.9664","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/39/19/pgen.1003302.PMC3585120.pdf","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:35313e4a7692497993abb5be80b6b99c","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/35313e4a7692497993abb5be80b6b99c","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Genetics, Vol 9, Iss 2, p e1003302 (2013)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/641659","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/_FAM20A_Mutations_Can_Cause_Enamel_Renal_Syndrome_ERS__/641659","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Dataset"},{"id":"doi:10.60692/mnpdd-0k850","doi":"https://doi.org/10.60692/mnpdd-0k850","is_oa":true,"landing_page_url":"https://doi.org/10.60692/mnpdd-0k850","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"},{"id":"doi:10.60692/x6vmj-sy319","doi":"https://doi.org/10.60692/x6vmj-sy319","is_oa":true,"landing_page_url":"https://doi.org/10.60692/x6vmj-sy319","pdf_url":null,"source":{"id":"https://openalex.org/S7407051682","display_name":"Greater South Information System","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article-journal"}],"best_oa_location":{"id":"doi:10.1371/journal.pgen.1003302","doi":"https://doi.org/10.1371/journal.pgen.1003302","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pgen.1003302","pdf_url":"https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1003302&type=printable","source":{"id":"https://openalex.org/S103870658","display_name":"PLoS Genetics","issn_l":"1553-7390","issn":["1553-7390","1553-7404"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G14391827","display_name":"Acquisition of a New Electron Microprobe at the University of Michigan","funder_award_id":"9911352","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G1983616209","display_name":null,"funder_award_id":"EAR-9911352","funder_id":"https://openalex.org/F4320309652","funder_display_name":"University of Michigan"},{"id":"https://openalex.org/G570948490","display_name":null,"funder_award_id":"DE-015846","funder_id":"https://openalex.org/F4320337365","funder_display_name":"National Institute of Dental and Craniofacial Research"},{"id":"https://openalex.org/G6120918807","display_name":"Genetics of Dental Enamel Formation","funder_award_id":"R01DE015846","funder_id":"https://openalex.org/F4320337365","funder_display_name":"National Institute of Dental and Craniofacial Research"},{"id":"https://openalex.org/G7560158290","display_name":"MicroCT 100","funder_award_id":"S10RR026475","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G9000200702","display_name":null,"funder_award_id":"DE015846","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G942592239","display_name":"Genetic Mechanisms of Amelogenesis Imperfecta","funder_award_id":"R56DE015846","funder_id":"https://openalex.org/F4320337365","funder_display_name":"National Institute of Dental and Craniofacial Research"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320309652","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337365","display_name":"National Institute of Dental and Craniofacial Research","ror":"https://ror.org/004a2wv92"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2013677940.pdf","grobid_xml":"https://content.openalex.org/works/W2013677940.grobid-xml"},"referenced_works_count":53,"referenced_works":["https://openalex.org/W91876737","https://openalex.org/W1534631264","https://openalex.org/W1581436044","https://openalex.org/W1606710783","https://openalex.org/W1972332916","https://openalex.org/W1974657445","https://openalex.org/W1977832201","https://openalex.org/W1979594827","https://openalex.org/W1981542275","https://openalex.org/W1987374058","https://openalex.org/W1987852042","https://openalex.org/W1988119351","https://openalex.org/W2008150799","https://openalex.org/W2013262910","https://openalex.org/W2016772124","https://openalex.org/W2025696958","https://openalex.org/W2029140416","https://openalex.org/W2029400582","https://openalex.org/W2040328099","https://openalex.org/W2044868931","https://openalex.org/W2048551696","https://openalex.org/W2051115618","https://openalex.org/W2059145105","https://openalex.org/W2061423889","https://openalex.org/W2065264815","https://openalex.org/W2065543910","https://openalex.org/W2066147745","https://openalex.org/W2067637897","https://openalex.org/W2068355680","https://openalex.org/W2069575842","https://openalex.org/W2072827246","https://openalex.org/W2091137045","https://openalex.org/W2091951759","https://openalex.org/W2095535542","https://openalex.org/W2096700366","https://openalex.org/W2099245827","https://openalex.org/W2104644613","https://openalex.org/W2118052956","https://openalex.org/W2124481587","https://openalex.org/W2132123037","https://openalex.org/W2139299902","https://openalex.org/W2146205364","https://openalex.org/W2149004331","https://openalex.org/W2150143287","https://openalex.org/W2164409939","https://openalex.org/W2168530048","https://openalex.org/W2170373182","https://openalex.org/W2171777347","https://openalex.org/W2171810389","https://openalex.org/W2248123582","https://openalex.org/W2409096828","https://openalex.org/W2885727518","https://openalex.org/W4290298828"],"related_works":["https://openalex.org/W3081346745","https://openalex.org/W3112543062","https://openalex.org/W7056507984","https://openalex.org/W2898449690","https://openalex.org/W4375956154","https://openalex.org/W2159186788","https://openalex.org/W3128634065","https://openalex.org/W2131912309","https://openalex.org/W2596440320","https://openalex.org/W2140418436"],"abstract_inverted_index":{"Enamel-renal":[0],"syndrome":[1,35],"(ERS)":[2],"is":[3,164],"an":[4],"autosomal":[5],"recessive":[6,57],"disorder":[7],"characterized":[8,47],"by":[9,135],"severe":[10,139],"enamel":[11],"hypoplasia,":[12],"failed":[13],"tooth":[14],"eruption,":[15],"intrapulpal":[16],"calcifications,":[17],"enlarged":[18],"gingiva,":[19],"and":[20,32,52,70,76,118,122,159,180,188],"nephrocalcinosis.":[21],"Recently,":[22],"mutations":[23,182],"in":[24,54,142,174,183],"FAM20A":[25,58,184],"were":[26],"reported":[27],"to":[28,96,161],"cause":[29,185],"amelogenesis":[30],"imperfecta":[31],"gingival":[33],"fibromatosis":[34],"(AIGFS),":[36],"which":[37,153],"closely":[38],"resembles":[39],"ERS":[40],"except":[41],"for":[42],"the":[43,85,92,103,136,143,162,175],"renal":[44],"calcifications.":[45],"We":[46],"three":[48],"families":[49],"with":[50,128],"AIGFS":[51,95,187],"identified,":[53],"each":[55],"case,":[56],"mutations:":[59],"family":[60,65,71,86,104],"1":[61],"(c.992G>A;":[62],"g.63853G>A;":[63],"p.Gly331Asp),":[64],"2":[66,87],"(c.720-2A>G;":[67],"g.62232A>G;":[68],"p.Gln241_Arg271del),":[69],"3":[72,105],"(c.406C>T;":[73],"g.50213C>T;":[74],"p.Arg136*":[75],"c.1432C>T;":[77],"g.68284C>T;":[78],"p.Arg478*).":[79],"Significantly,":[80],"a":[81,155,165,171],"kidney":[82],"ultrasound":[83],"of":[84,125,138,145,177],"proband":[88],"revealed":[89],"nephrocalcinosis,":[90],"revising":[91],"diagnosis":[93],"from":[94,102],"ERS.":[97,189],"By":[98],"characterizing":[99],"teeth":[100],"extracted":[101],"proband,":[106],"we":[107,149],"demonstrated":[108],"that":[109,151,169,181],"FAM20A(-/-)":[110],"molars":[111],"lacked":[112],"true":[113],"enamel,":[114],"showed":[115],"extensive":[116],"crown":[117],"root":[119],"resorption,":[120],"hypercementosis,":[121],"partial":[123],"replacement":[124],"resorbed":[126],"mineral":[127,132],"bone":[129],"or":[130],"coalesced":[131],"spheres.":[133],"Supported":[134],"observation":[137],"ectopic":[140],"calcifications":[141],"kidneys":[144],"Fam20a":[146],"null":[147],"mice,":[148],"conclude":[150],"FAM20A,":[152],"has":[154],"kinase":[156,168],"homology":[157],"domain":[158],"localizes":[160],"Golgi,":[163],"putative":[166],"Golgi":[167],"plays":[170],"significant":[172],"role":[173],"regulation":[176],"biomineralization":[178],"processes,":[179],"both":[186]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":9}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}