{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T13:35:42Z","timestamp":1762176942934,"version":"3.37.3"},"reference-count":25,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T00:00:00Z","timestamp":1474588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK020503"],"award-info":[{"award-number":["DK020503"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK090257"],"award-info":[{"award-number":["DK090257"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK083909"],"award-info":[{"award-number":["DK083909"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["DK093433"],"award-info":[{"award-number":["DK093433"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"NIDDK","doi-asserted-by":"crossref","award":["DK110858"],"award-info":[{"award-number":["DK110858"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0163322","type":"journal-article","created":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T17:35:28Z","timestamp":1474652128000},"page":"e0163322","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":7,"title":["The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda"],"prefix":"10.1371","volume":"11","author":[{"given":"Colin P.","family":"Farrell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica R.","family":"Overbey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hetanshi","family":"Naik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Nance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gordon D.","family":"McLaren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine E.","family":"McLaren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luming","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles J.","family":"Parker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-1678","authenticated-orcid":true,"given":"John D.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2016,9,23]]},"reference":[{"issue":"5","key":"ref1","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.bpg.2010.07.002","article-title":"Porphyria cutanea tarda\u2014when skin meets liver","volume":"24","author":"J Frank","year":"2010","journal-title":"Best Pract Res Clin Gastroenterol"},{"issue":"3","key":"ref2","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.det.2014.03.001","article-title":"The cutaneous porphyrias","volume":"32","author":"D Schulenburg-Brand","year":"2014","journal-title":"Dermatol Clin"},{"issue":"12","key":"ref3","doi-asserted-by":"crossref","first-page":"5079","DOI":"10.1073\/pnas.0700547104","article-title":"A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda","volume":"104","author":"JD Phillips","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"ref4","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.cgh.2009.11.017","article-title":"Associations among behavior-related susceptibility factors in porphyria cutanea tarda","volume":"8","author":"S Jalil","year":"2010","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"4","key":"ref5","doi-asserted-by":"crossref","first-page":"977","DOI":"10.3390\/metabo4040977","article-title":"Clinically important features of porphyrin and heme metabolism and the porphyrias","volume":"4","author":"S Besur","year":"2014","journal-title":"Metabolites"},{"issue":"12","key":"ref6","doi-asserted-by":"crossref","first-page":"4723","DOI":"10.1182\/blood-2008-02-138222","article-title":"Down-regulation of hepcidin in porphyria cutanea tarda","volume":"112","author":"Richard S. Ajioka","year":"2008","journal-title":"Blood"},{"issue":"5","key":"ref7","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1182\/blood.V95.5.1565.005k42_1565_1571","article-title":"Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda","volume":"95","author":"Zaneta J. Bulaj","year":"2000","journal-title":"Blood"},{"key":"ref8","article-title":"An overview of molecular basis of iron metabolism regulation and the associated pathologies","author":"B Silva","year":"2015","journal-title":"Biochim Biophys Acta"},{"issue":"8","key":"ref9","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1182\/blood-2014-01-552281","article-title":"HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression","volume":"124","author":"XG Wu","year":"2014","journal-title":"Blood"},{"key":"ref10","article-title":"Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload","author":"CE McLaren","year":"2015","journal-title":"Hepatology (Baltimore, Md)"},{"issue":"8","key":"ref11","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1373\/clinchem.2004.034322","article-title":"Closed-tube genotyping with unlabeled oligonucleotide probes and a saturating DNA dye","volume":"50","author":"L Zhou","year":"2004","journal-title":"Clinical chemistry"},{"article-title":"Multiplex Genotyping by Small Amplicon Melting and Unlabeled Probes: Application to HFE genotyping","year":"2006","author":"RW, K. Pryor","key":"ref12"},{"issue":"6","key":"ref13","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1109\/TCBB.2012.112","article-title":"uAnalyze: web-based high-resolution DNA melting analysis with comparison to thermodynamic predictions","volume":"9","author":"ZL Dwight","year":"2012","journal-title":"IEEE\/ACM Trans Comput Biol Bioinform"},{"issue":"1\u20132","key":"ref14","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.mrfmmm.2005.01.008","article-title":"Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP Genotyping Assays and the SNPlex Genotyping System","volume":"573","author":"FM De la Vega","year":"2005","journal-title":"Mutat Res"},{"key":"ref15","unstructured":"Consortium TP. Longitudinal Study of the Porphyrias. 2016."},{"key":"ref16","unstructured":"Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (URL: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/evs.gs.washington.edu\/EVS\/\" xlink:type=\"simple\">http:\/\/evs.gs.washington.edu\/EVS\/<\/ext-link>) [September 2015]."},{"issue":"16","key":"ref17","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/humu.22225","article-title":"Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models","volume":"34","author":"HA Shihab","year":"2013","journal-title":"Hum Mutat"},{"key":"ref19","unstructured":"Broad Institute of MIT. Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/exac.broadinstitute.org\" xlink:type=\"simple\">http:\/\/exac.broadinstitute.org<\/ext-link>) [May, 2015]."},{"issue":"1","key":"ref20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004280100401","article-title":"C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients","volume":"439","author":"A Tannapfel","year":"2001","journal-title":"Virchows Archiv: an international journal of pathology"},{"issue":"Suppl 2","key":"ref21","first-page":"S75","article-title":"Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda","volume":"55","author":"J Frank","year":"2006","journal-title":"Physiological research \/ Academia Scientiarum Bohemoslovaca"},{"issue":"4","key":"ref22","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1590\/abd1806-4841.20132048","article-title":"Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients","volume":"88","author":"FM Vieira","year":"2013","journal-title":"Anais brasileiros de dermatologia"},{"issue":"12","key":"ref23","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1111\/j.1572-0241.2000.03369.x","article-title":"Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection","volume":"95","author":"ALC Martinelli","year":"2000","journal-title":"Am J Gastroenterol"},{"issue":"3","key":"ref24","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1159\/000068895","article-title":"Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France","volume":"206","author":"C Chiaverini","year":"2003","journal-title":"Dermatology (Basel, Switzerland)"},{"key":"ref25","article-title":"GNPAT p.D519G variant and iron metabolism during oral iron tolerance test","author":"R Rametta","year":"2016","journal-title":"Hepatology (Baltimore, Md)"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0163322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T02:59:25Z","timestamp":1657335565000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0163322"}},"subtitle":[],"editor":[{"given":"Fanis","family":"Missirlis","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2016,9,23]]},"references-count":25,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2016,9,23]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0163322","relation":{},"ISSN":["1932-6203"],"issn-type":[{"type":"electronic","value":"1932-6203"}],"subject":[],"published":{"date-parts":[[2016,9,23]]}}}