{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:34Z","timestamp":1791098854056,"version":"4.1.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.gene.2013.01.022","type":"journal-article","created":{"date-parts":[[2013,1,26]],"date-time":"2013-01-26T01:46:37Z","timestamp":1359164797000},"page":"461-466","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1"],"prefix":"10.1016","volume":"518","author":[{"given":"Parisa","family":"Mohamadynejad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Ghaedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yousef","family":"Shafeghati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Salamian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somayeh","family":"Tanhaie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fereshteh","family":"Karamali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzaneh","family":"Rabiee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazem","family":"Parivar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Baharvand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Hossein","family":"Nasr-Esfahani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.gene.2013.01.022_bb0010","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng0497-369","article-title":"Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata","volume":"15","author":"Braverman","year":"1997","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.gene.2013.01.022_bb0005","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/humu.10124","article-title":"Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype","volume":"20","author":"Braverman","year":"2002","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.gene.2013.01.022_bb0015","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1083\/jcb.140.4.807","article-title":"A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris","volume":"140","author":"Elgersma","year":"1998","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2013.01.022_bb0020","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1083\/jcb.108.5.1657","article-title":"A conserved tripeptide sorts proteins to peroxisomes","volume":"108","author":"Gould","year":"1989","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.gene.2013.01.022_bb0025","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1172\/JCI114674","article-title":"Rhizomelic chondrodysplasia punctata: deficiency of 3-oxoacyl-coenzyme athiolase in peroxisome and impaired processing of the enzyme","volume":"86","author":"Heikoop","year":"1990","journal-title":"J. Clin. Invest."},{"issue":"8","key":"10.1016\/j.gene.2013.01.022_bb0030","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1002\/jgm.928","article-title":"PhiC31 integrase mediates integration in cultured synovial cells and enhances gene expression in rabbit joints","volume":"8","author":"Keravala","year":"2006","journal-title":"J. Gene Med."},{"key":"10.1016\/j.gene.2013.01.022_bb0035","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1034\/j.1600-0854.2001.90165.x","article-title":"PTS2 protein import into mammalian peroxisomes","volume":"2","author":"Legakis","year":"2001","journal-title":"Traffic"},{"issue":"5","key":"10.1016\/j.gene.2013.01.022_bb0040","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1016\/j.bbamcr.2009.02.007","article-title":"In vitro import of peroxisome-targeting signal type 2 (PTS2) receptor Pex7p into peroxisomes","volume":"1793","author":"Miyata","year":"2009","journal-title":"Biochim. Biophys. Acta, Mol. Cell Res."},{"issue":"4","key":"10.1016\/j.gene.2013.01.022_bb0050","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng0497-377","article-title":"Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor","volume":"15","author":"Motley","year":"1997","journal-title":"Nat. Genet."},{"issue":"3","key":"10.1016\/j.gene.2013.01.022_bb0045","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1086\/338998","article-title":"Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1","volume":"70","author":"Motley","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"49","key":"10.1016\/j.gene.2013.01.022_bb0055","doi-asserted-by":"crossref","first-page":"37311","DOI":"10.1074\/jbc.M607178200","article-title":"Molecular mechanisms of import of peroxisome-targeting signal type 2 (PTS2) proteins by PTS2 receptor Pex7p and PTS1 receptor Pex5pL","volume":"281","author":"Mukai","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.01.022_bb0060","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1104\/pp.115.3.881","article-title":"Diverse amino acid residues function within the type 1 peroxisomal targeting signal (implications for the role of accessory residues upstream of the type 1 peroxisomal targeting signal)","volume":"115","author":"Mullen","year":"1997","journal-title":"Plant Physiol."},{"issue":"1","key":"10.1016\/j.gene.2013.01.022_bb0065","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF03195717","article-title":"Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India","volume":"51","author":"Phadke","year":"2010","journal-title":"J. Appl. Genet."},{"issue":"4","key":"10.1016\/j.gene.2013.01.022_bb0070","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng0497-381","article-title":"Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor","volume":"15","author":"Purdue","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2013.01.022_bb0075","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0968-0004(99)01384-5","article-title":"The WD repeat: a common architecture for diverse functions","volume":"24","author":"Smith","year":"1999","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.gene.2013.01.022_bb0080","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev.biochem.69.1.399","article-title":"Import of peroxisomal matrix and membrane proteins","volume":"69","author":"Subramani","year":"2000","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.gene.2013.01.022_bb0085","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1002\/j.1460-2075.1991.tb04889.x","article-title":"A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolas","volume":"10","author":"Swinkels","year":"1991","journal-title":"EMBO"},{"key":"10.1016\/j.gene.2013.01.022_bb0090","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1083\/jcb.129.1.65","article-title":"PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD receptor family and is essential for the import of thiolase into peroxisomes","volume":"129","author":"Zhang","year":"1995","journal-title":"J. Cell Biol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913000632?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913000632?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T22:42:33Z","timestamp":1562625753000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913000632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S0378111913000632"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.01.022","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}