{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:04:44Z","timestamp":1791111884093,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T00:00:00Z","timestamp":1414800000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Foundation from the Institute of Shanghai Municipal Health","award":["20134Y037"],"award-info":[{"award-number":["20134Y037"]}]},{"name":"Foundation from the Institute of Shanghai Municipal Health","award":["20134094"],"award-info":[{"award-number":["20134094"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1016\/j.gene.2014.08.032","type":"journal-article","created":{"date-parts":[[2014,8,19]],"date-time":"2014-08-19T07:47:55Z","timestamp":1408434475000},"page":"33-38","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family"],"prefix":"10.1016","volume":"551","author":[{"given":"Yan","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Ting","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-quan","family":"Gen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Wei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2014.08.032_bb0005","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1097\/01.ASN.0000039578.55705.6E","article-title":"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD\/PKHD1)","volume":"14","author":"Bergmann","year":"2003","journal-title":"J. Am. Soc. Nephrol."},{"issue":"3","key":"10.1016\/j.gene.2014.08.032_bb0010","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","article-title":"Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)","volume":"67","author":"Bergmann","year":"2005","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2014.08.032_bb0020","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1471-2156-14-6","article-title":"Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations","volume":"14","author":"Chin","year":"2013","journal-title":"BMC Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0025","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.1097\/01.ASN.0000078805.87038.05","article-title":"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations","volume":"14","author":"Furu","year":"2003","journal-title":"J. Am. Soc. Nephrol."},{"issue":"4","key":"10.1016\/j.gene.2014.08.032_bb0040","doi-asserted-by":"crossref","first-page":"214","DOI":"10.5808\/GI.2012.10.4.214","article-title":"Application of whole exome sequencing to identify disease-causing variants in inherited human diseases","volume":"10","author":"Goh","year":"2012","journal-title":"Genomics Inf."},{"key":"10.1016\/j.gene.2014.08.032_bb0030","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1542\/peds.111.5.1072","article-title":"Autosomal recessive polycystic kidney disease: the clinical experience in North America","volume":"111","author":"Guay-Woodford","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.gene.2014.08.032_bb0035","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ymgme.2009.10.010","article-title":"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis","volume":"99","author":"Gunay-Ayguna","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.gene.2014.08.032_bb0045","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1146\/annurev.med.60.101707.125712","article-title":"Polycystic kidney disease","volume":"60","author":"Harris","year":"2009","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.gene.2014.08.032_bb0050","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1093\/hmg\/ddg068","article-title":"PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression","volume":"12","author":"Hogan","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0055","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1136\/jmedgenet-2011-100133","article-title":"Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform","volume":"48","author":"Lim","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0060","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s00439-005-0027-7","article-title":"Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)","volume":"118","author":"Losekoot","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0070","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1006\/geno.1997.5145","article-title":"Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2b, and GSTA1 at 6p21.2\u2013p12","volume":"48","author":"Mucher","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2014.08.032_bb0075","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1086\/340448","article-title":"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats","volume":"70","author":"Onuchic","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0080","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1002\/ajmg.10468","article-title":"Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene","volume":"110","author":"Onuchic","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0085","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1046\/j.1523-1755.2003.00111.x","article-title":"A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees","volume":"64","author":"Rossetti","year":"2003","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2014.08.032_bb0090","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1681\/ASN.2011101032","article-title":"Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing","volume":"23","author":"Rossetti","year":"2012","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.gene.2014.08.032_bb0095","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1136\/jmg.2004.024489","article-title":"Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts","volume":"42","author":"Sharp","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0100","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1080\/07853890500389181","article-title":"Polycystic liver and kidney diseases","volume":"37","author":"Tahvanainen","year":"2005","journal-title":"Ann. Med."},{"key":"10.1016\/j.gene.2014.08.032_bb0105","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/ng833","article-title":"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein","volume":"30","author":"Ward","year":"2002","journal-title":"Nat. Genet."},{"issue":"12","key":"10.1016\/j.gene.2014.08.032_bb0110","doi-asserted-by":"crossref","first-page":"e29500","DOI":"10.1371\/journal.pone.0029500","article-title":"Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing","volume":"6","author":"Wei","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2014.08.032_bb0115","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/BF00388467","article-title":"Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?","volume":"71","author":"Zerres","year":"1985","journal-title":"Hum. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0120","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/pd.1970080308","article-title":"Autosomal recessive polycystic kidney disease: problems of prenatal diagnosis","volume":"8","author":"Zerres","year":"1988","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.gene.2014.08.032_bb0125","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q","article-title":"Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology","volume":"76","author":"Zerres","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0130","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/s001090050221","article-title":"Autosomal recessive polycystic kidney disease","volume":"76","author":"Zerres","year":"1998","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.gene.2014.08.032_bb0135","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/j.0009-9163.2004.00259.x","article-title":"New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene","volume":"66","author":"Zerres","year":"2004","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2014.08.032_bb0140","first-page":"2482","article-title":"Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease","volume":"125","author":"Zhang","year":"2012","journal-title":"Chin. Med. J."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111914009585?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111914009585?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,30]],"date-time":"2018-09-30T12:55:18Z","timestamp":1538312118000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111914009585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["S0378111914009585"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2014.08.032","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD family","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2014.08.032","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}