{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:44:11Z","timestamp":1786977851318,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":169,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1002\/humu.22759","type":"journal-article","created":{"date-parts":[[2015,1,23]],"date-time":"2015-01-23T07:42:26Z","timestamp":1421998946000},"page":"439-442","source":"Crossref","is-referenced-by-count":31,"title":["Mutations in\n                    <i>TAX1BP3<\/i>\n                    Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia"],"prefix":"10.1155","volume":"36","author":[{"given":"Eyal","family":"Reinstein","sequence":"first","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Israel"},{"name":"Sackler School of Medicine; Tel Aviv University; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Orvin","sequence":"additional","affiliation":[{"name":"Department of Cardiology; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Einav","family":"Tayeb-Fligelman","sequence":"additional","affiliation":[{"name":"Department of Biology; Technion-Israel Institute of Technology; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadas","family":"Stiebel-Kalish","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine; Tel Aviv University; Israel"},{"name":"Department of Ophthalmology; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shay","family":"Tzur","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine; Rambam Health Care Campus; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allen L.","family":"Pimienta","sequence":"additional","affiliation":[{"name":"Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lily","family":"Bazak","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuvia","family":"Bengal","sequence":"additional","affiliation":[{"name":"Department of Cardiology; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lior","family":"Cohen","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan D.","family":"Gaton","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine; Tel Aviv University; Israel"},{"name":"Department of Ophthalmology; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Concetta","family":"Bormans","sequence":"additional","affiliation":[{"name":"Genomics Research Center; Gene by Gene; Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meytal","family":"Landau","sequence":"additional","affiliation":[{"name":"Department of Biology; Technion-Israel Institute of Technology; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ran","family":"Kornowski","sequence":"additional","affiliation":[{"name":"Department of Cardiology; Rabin Medical Center; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mordechai","family":"Shohat","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Israel"},{"name":"Sackler School of Medicine; Tel Aviv University; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron M.","family":"Behar","sequence":"additional","affiliation":[{"name":"Genomics Research Center; Gene by Gene; Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,16]]},"reference":[{"key":"10.1002\/humu.22759-BIB0001|humu22759-cit-0001","doi-asserted-by":"crossref","first-page":"4200","DOI":"10.1091\/mbc.E06-02-0129","article-title":"TIP-1 has PDZ scaffold antagonist activity","volume":"17","author":"Alewine","year":"2006","journal-title":"Mol Biol Cell"},{"key":"10.1002\/humu.22759-BIB0002|humu22759-cit-0002","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/j.1440-169X.2007.00921.x","article-title":"Tip 1 induces filopodia growth and is important for gastrulation movements during zebrafish development","volume":"49","author":"Besser","year":"2007","journal-title":"Dev Growth Differ"},{"key":"10.1002\/humu.22759-BIB0003|humu22759-cit-0003","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1002\/humu.22759-BIB0004|humu22759-cit-0004","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/prot.20810","article-title":"Prediction of protein stability changes for single-site mutations using support vector machines","volume":"62","author":"Cheng","year":"2006","journal-title":"Proteins"},{"key":"10.1002\/humu.22759-BIB0005|humu22759-cit-0005","doi-asserted-by":"crossref","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.22759-BIB0006|humu22759-cit-0006","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1002\/humu.22759-BIB0007|humu22759-cit-0007","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1097\/HCO.0b013e328337ba52","article-title":"The genetics of dilated cardiomyopathy","volume":"25","author":"Dellefave","year":"2010","journal-title":"Curr Opin Cardiol"},{"key":"10.1002\/humu.22759-BIB0008|humu22759-cit-0008","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1007\/s10858-009-9361-8","article-title":"Solution structure of the human Tax-interacting protein-1","volume":"45","author":"Durney","year":"2009","journal-title":"J Biomol NMR"},{"key":"10.1002\/humu.22759-BIB0009|humu22759-cit-0009","unstructured":"http:\/\/evs.gs.washington.edu\/EVS\/ 2014"},{"key":"10.1002\/humu.22759-BIB0010|humu22759-cit-0010","doi-asserted-by":"crossref","first-page":"38758","DOI":"10.1074\/jbc.M306324200","article-title":"The PDZ protein tax-interacting protein-1 inhibits beta-catenin transcriptional activity and growth of colorectal cancer cells","volume":"278","author":"Kanamori","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22759-BIB0011|humu22759-cit-0011","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/nar\/gki370","article-title":"ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures","volume":"33","author":"Landau","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1002\/humu.22759-BIB0012|humu22759-cit-0012","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22759-BIB0013|humu22759-cit-0013","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1002\/humu.22759-BIB0014|humu22759-cit-0014","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S0014-5793(00)02373-5","article-title":"The C-terminus of human glutaminase L mediates association with PDZ domain-containing proteins","volume":"488","author":"Olalla","year":"2002","journal-title":"FEBS Lett"},{"key":"10.1002\/humu.22759-BIB0015|humu22759-cit-0015","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera-a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J Comput Chem"},{"issue":"Suppl 1","key":"10.1002\/humu.22759-BIB0016|humu22759-cit-0016","doi-asserted-by":"crossref","first-page":"S71","DOI":"10.1093\/bioinformatics\/18.suppl_1.S71","article-title":"Rate4Site: an algorithmic tool for the identification of functional regions in proteins by surface mapping of evolutionary determinants within their homologues","volume":"18","author":"Pupko","year":"2002","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.22759-BIB0017|humu22759-cit-0017","doi-asserted-by":"crossref","first-page":"33962","DOI":"10.1074\/jbc.M000465200","article-title":"The PDZ protein TIP-1 interacts with the Rho effector rhotekin and is involved in Rho signaling to the serum response element","volume":"275","author":"Reynaud","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22759-BIB0018|humu22759-cit-0018","doi-asserted-by":"crossref","first-page":"D43","DOI":"10.1093\/nar\/gks1068","article-title":"Update on activities at the Universal Protein Resource (UniProt) in 2013","volume":"41","author":"The UniProt Consortium","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1002\/humu.22759-BIB0019|humu22759-cit-0019","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1253\/circj.CJ-14-0893","article-title":"Inherited cardiomyopathies","volume":"78","author":"Towbin","year":"2014","journal-title":"Circ J"},{"key":"10.1002\/humu.22759-BIB0020|humu22759-cit-0020","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ejhg.2009.125","article-title":"Septo-optic dysplasia","volume":"18","author":"Webb","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22759-BIB0021|humu22759-cit-0021","doi-asserted-by":"crossref","first-page":"W215","DOI":"10.1093\/nar\/gkr363","article-title":"SDM-a server for predicting effects of mutations on protein stability and malfunction","volume":"39","author":"Worth","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22759-BIB0022|humu22759-cit-0022","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.jmb.2009.07.060","article-title":"Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1","volume":"392","author":"Yan","year":"2009","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.22759-BIB0023|humu22759-cit-0023","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.jmb.2008.09.034","article-title":"Structural basis of beta-catenin recognition by Tax-interacting protein-1","volume":"384","author":"Zhang","year":"2008","journal-title":"J Mol Biol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22759","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22759","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22759\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:53:15Z","timestamp":1672314795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,16]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22759","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3,16]]}}}