{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T03:41:30Z","timestamp":1771904490522,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T00:00:00Z","timestamp":1506038400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T00:00:00Z","timestamp":1506038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Legacy Heritage Biomedical Program of the Israel Science Foundation","award":["1798\/16"],"award-info":[{"award-number":["1798\/16"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1002\/humu.23310","type":"journal-article","created":{"date-parts":[[2017,8,5]],"date-time":"2017-08-05T02:22:45Z","timestamp":1501899765000},"page":"1671-1683","source":"Crossref","is-referenced-by-count":18,"title":["<i>PAX7<\/i>mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay"],"prefix":"10.1155","volume":"38","author":[{"given":"Regina","family":"Proskorovski-Ohayon","sequence":"first","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rotem","family":"Kadir","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Analia","family":"Michalowski","sequence":"additional","affiliation":[{"name":"Zussman Child Development Center; Division of Pediatrics; Soroka University Medical Center; Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit","family":"Flusser","sequence":"additional","affiliation":[{"name":"Zussman Child Development Center; Division of Pediatrics; Soroka University Medical Center; Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yonatan","family":"Perez","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Metabolism Unit; Division of Pediatrics; Soroka University Medical Center; Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Sivan","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-1296","authenticated-orcid":false,"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics; National Institute for Biotechnology in the Negev and Faculty of Health Sciences; Ben Gurion University of the Negev; Beer Sheva Israel"},{"name":"Genetics Institute; Soroka University Medical Center; affiliated to Ben Gurion University of the Negev; Beer Sheva Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,9,22]]},"reference":[{"key":"10.1002\/humu.23310-BIB0001|humu23310-cit-0001","doi-asserted-by":"crossref","DOI":"10.1111\/cge.13051","article-title":"A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia","author":"Alharby","year":"2017","journal-title":"Clinical Genetics"},{"key":"10.1002\/humu.23310-BIB0002|humu23310-cit-0002","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/355637a0","article-title":"An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome","volume":"355","author":"Baldwin","year":"1992","journal-title":"Nature"},{"key":"10.1002\/humu.23310-BIB0003|humu23310-cit-0003","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.jchemneu.2014.03.006","article-title":"Immunohistochemical analysis of Pax6 and Pax7 expression in the CNS of adult Xenopus laevis","volume":"57","author":"Band\u00edn","year":"2014","journal-title":"Journal of Chemical Neuroanatomy"},{"key":"10.1002\/humu.23310-BIB0004|humu23310-cit-0004","doi-asserted-by":"crossref","first-page":"2216","DOI":"10.1073\/pnas.91.6.2216","article-title":"PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates","volume":"91","author":"Barnes","year":"1994","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1002\/humu.23310-BIB0005|humu23310-cit-0005","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/hmg\/5.1.15","article-title":"In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma","volume":"5","author":"Barr","year":"1996","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/humu.23310-BIB0006|humu23310-cit-0006","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1681\/ASN.2013070686","article-title":"Mutations in PAX2 associate with adult-onset FSGS","volume":"25","author":"Barua","year":"2014","journal-title":"Journal of the American Society of Nephrology"},{"key":"10.1002\/humu.23310-BIB0007|humu23310-cit-0007","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1038\/nature04684","article-title":"Specification of the neural crest occurs during gastrulation and requires Pax7","volume":"441","author":"Basch","year":"2006","journal-title":"Nature"},{"key":"10.1002\/humu.23310-BIB0008|humu23310-cit-0008","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.ydbio.2010.05.012","article-title":"Analysis of early human neural crest development","volume":"344","author":"Betters","year":"2010","journal-title":"Developmental Biology"},{"key":"10.1002\/humu.23310-BIB0009|humu23310-cit-0009","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1101\/gad.200436.112","article-title":"The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling","volume":"26","author":"Budry","year":"2012","journal-title":"Genes & Development"},{"key":"10.1002\/humu.23310-BIB0010|humu23310-cit-0010","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1101\/gad.997502","article-title":"A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer","volume":"16","author":"Caputi","year":"2002","journal-title":"Genes & Development"},{"key":"10.1002\/humu.23310-BIB0011|humu23310-cit-0011","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: Exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nature Reviews Genetics"},{"key":"10.1002\/humu.23310-BIB0012|humu23310-cit-0012","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1002\/bies.950190905","article-title":"Pax genes and organogenesis","volume":"19","author":"Dahl","year":"1997","journal-title":"Bioessays"},{"key":"10.1002\/humu.23310-BIB0013|humu23310-cit-0013","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1126\/science.1190719","article-title":"Creation of a bacterial cell controlled by a chemically synthesized genome","volume":"329","author":"Gibson","year":"2010","journal-title":"Science"},{"key":"10.1002\/humu.23310-BIB0014|humu23310-cit-0014","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/nmeth.1318","article-title":"Enzymatic assembly of DNA molecules up to several hundred kilobases","volume":"6","author":"Gibson","year":"2009","journal-title":"Nature Methods"},{"key":"10.1002\/humu.23310-BIB0015|humu23310-cit-0015","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0092-8674(00)80542-5","article-title":"A perfect message: RNA surveillance and nonsense-mediated decay","volume":"96","author":"Hentze","year":"1999","journal-title":"Cell"},{"key":"10.1002\/humu.23310-BIB0016|humu23310-cit-0016","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1387\/ijdb.052111dh","article-title":"Comparative expression analysis of Pax3 and Pax7 during myogenesis in the mouse embryo","volume":"50","author":"Horst","year":"2005","journal-title":"The International Journal of Developmental Biology"},{"key":"10.1002\/humu.23310-BIB0017|humu23310-cit-0017","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1002\/stem.2396","article-title":"Barx2 and Pax7 regulate Axin2 expression in myoblasts by interaction with beta-catenin and chromatin remodelling","volume":"34","author":"Hulin","year":"2016","journal-title":"Stem Cells"},{"key":"10.1002\/humu.23310-BIB0018|humu23310-cit-0018","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/wrna.1357","article-title":"Nonsense-mediated mRNA decay: Novel mechanistic insights and biological impact","volume":"7","author":"Karousis","year":"2016","journal-title":"Wiley Interdisciplinary Reviews: RNA"},{"key":"10.1002\/humu.23310-BIB0019|humu23310-cit-0019","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.ab.2003.10.047","article-title":"Visible fluorescent detection of proteins in polyacrylamide gels without staining","volume":"326","author":"Ladner","year":"2004","journal-title":"Analytical Biochemistry"},{"key":"10.1002\/humu.23310-BIB0020|humu23310-cit-0020","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1038\/nature08209","article-title":"Adult satellite cells and embryonic muscle progenitors have distinct genetic requirements","volume":"460","author":"Lepper","year":"2009","journal-title":"Nature"},{"key":"10.1002\/humu.23310-BIB0021|humu23310-cit-0021","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/S1074-7613(00)80466-5","article-title":"Nonsense surveillance in lymphocytes","volume":"8","author":"Li","year":"1998","journal-title":"Immunity"},{"key":"10.1002\/humu.23310-BIB0022|humu23310-cit-0022","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0598-83","article-title":"PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis","volume":"19","author":"Macchia","year":"1998","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23310-BIB0023|humu23310-cit-0023","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nrm1310","article-title":"Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics","volume":"5","author":"Maquat","year":"2004","journal-title":"Nature Reviews Molecular Cell Biology"},{"key":"10.1002\/humu.23310-BIB0024|humu23310-cit-0024","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1017\/S1355838201002229","article-title":"Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay","volume":"7","author":"Maquat","year":"2001","journal-title":"RNA"},{"key":"10.1002\/humu.23310-BIB0025|humu23310-cit-0025","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.semcdb.2015.07.007","article-title":"Pax factors in transcription and epigenetic remodelling","volume":"44","author":"Mayran","year":"2015","journal-title":"Seminars in Cell & Developmental Biology"},{"issue":"7","key":"10.1002\/humu.23310-BIB0026|humu23310-cit-0026","doi-asserted-by":"crossref","first-page":"e41089","DOI":"10.1371\/journal.pone.0041089","article-title":"Pax7 lineage contributions to the mammalian neural crest","volume":"7","author":"Murdoch","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.23310-BIB0027|humu23310-cit-0027","doi-asserted-by":"crossref","first-page":"26829","DOI":"10.1074\/jbc.M100239200","article-title":"The identification of Prx1 transcription regulatory domains provides a mechanism for unequal compensation by thePrx1 and Prx2 loci","volume":"276","author":"Norris","year":"2001","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1002\/humu.23310-BIB0028|humu23310-cit-0028","doi-asserted-by":"crossref","first-page":"3430","DOI":"10.1038\/sj.emboj.7600346","article-title":"Pax7 directs postnatal renewal and propagation of myogenic satellite cells but not their specification","volume":"23","author":"Oustanina","year":"2004","journal-title":"EMBO Journal"},{"key":"10.1002\/humu.23310-BIB0029|humu23310-cit-0029","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1002\/jcp.25031","article-title":"Brg1 controls the expression of Pax7 to promote viability and proliferation of mouse primary myoblasts","volume":"230","author":"Padilla-Benavides","year":"2015","journal-title":"Journal of Cellular Physiology"},{"key":"10.1002\/humu.23310-BIB0030|humu23310-cit-0030","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1093\/hmg\/ddg131","article-title":"New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12","volume":"12","author":"Pagani","year":"2003","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/humu.23310-BIB0031|humu23310-cit-0031","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1007\/s00439-013-1337-9","article-title":"A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome","volume":"132","author":"Pohl","year":"2013","journal-title":"Human Genetics"},{"key":"10.1002\/humu.23310-BIB0032|humu23310-cit-0032","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0495-358","article-title":"Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux","volume":"9","author":"Sanyanusin","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23310-BIB0033|humu23310-cit-0033","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1038\/ng.2754","article-title":"A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia","volume":"45","author":"Shah","year":"2013","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23310-BIB0034|humu23310-cit-0034","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.2337\/diabetes.50.12.2864","article-title":"A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese","volume":"50","author":"Shimajiri","year":"2001","journal-title":"Diabetes"},{"key":"10.1002\/humu.23310-BIB0035|humu23310-cit-0035","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1016\/j.devcel.2012.03.014","article-title":"Transcriptional dominance of Pax7 in adult myogenesis is due to high-affinity recognition of homeodomain motifs","volume":"22","author":"Soleimani","year":"2012","journal-title":"Developmental Cell"},{"key":"10.1002\/humu.23310-BIB0036|humu23310-cit-0036","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/71634","article-title":"Mutation of PAX9 is associated with oligodontia","volume":"24","author":"Stockton","year":"2000","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23310-BIB0037|humu23310-cit-0037","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/355635a0","article-title":"Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene","volume":"355","author":"Tassabehji","year":"1992","journal-title":"Nature"},{"key":"10.1002\/humu.23310-BIB0038|humu23310-cit-0038","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s12033-013-9672-6","article-title":"A defined methodology for reliable quantification of Western blot data","volume":"55","author":"Taylor","year":"2013","journal-title":"Molecular Biotechnology"},{"key":"10.1002\/humu.23310-BIB0039|humu23310-cit-0039","doi-asserted-by":"crossref","first-page":"16474","DOI":"10.1073\/pnas.1307680110","article-title":"Pax7 is critical for the normal function of satellite cells in adult skeletal muscle","volume":"110","author":"Maltzahn","year":"2013","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"10.1002\/humu.23310-BIB0040|humu23310-cit-0040","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.gene.2004.07.030","article-title":"Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing","volume":"342","author":"Vorobyov","year":"2004","journal-title":"Gene"},{"key":"10.1002\/humu.23310-BIB0041|humu23310-cit-0041","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s00239-005-0163-7","article-title":"Getting the proto-Pax by the tail","volume":"63","author":"Vorobyov","year":"2006","journal-title":"Journal of Molecular Evolution"},{"key":"10.1002\/humu.23310-BIB0042|humu23310-cit-0042","doi-asserted-by":"crossref","first-page":"2218","DOI":"10.1167\/iovs.03-1413","article-title":"Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)","volume":"45","author":"Yamada","year":"2004","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"10.1002\/humu.23310-BIB0043|humu23310-cit-0043","first-page":"1173","article-title":"Homozygosity for Waardenburg syndrome","volume":"56","author":"Zlotogora","year":"1995","journal-title":"American Journal of Human Genetics"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23310","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:52Z","timestamp":1672332892000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,22]]},"references-count":43,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23310","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9,22]]}}}