{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:04:47Z","timestamp":1772118287051,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    The endoplasmic reticulum (ER) membrane protein complex (EMC) is essential for the insertion of a wide variety of transmembrane proteins into the plasma membrane across cell types. Each EMC is composed of Emc1\u20107, Emc10, and either Emc8 or Emc9. Recent human genetics studies have implicated variants in\n                    <jats:italic>EMC<\/jats:italic>\n                    genes as the basis for a group of human congenital diseases. The patient phenotypes are varied but appear to affect a subset of tissues more prominently than others. Namely, craniofacial development seems to be commonly affected. We previously developed an array of assays in\n                    <jats:italic>Xenopus tropicalis<\/jats:italic>\n                    to assess the effects of\n                    <jats:italic>emc1<\/jats:italic>\n                    depletion on the neural crest, craniofacial cartilage, and neuromuscular function. We sought to extend this approach to additional EMC components identified in patients with congenital malformations. Through this approach, we determine that EMC9 and EMC10 are important for neural crest development and the development of craniofacial structures. The phenotypes observed in patients and our\n                    <jats:italic>Xenopus<\/jats:italic>\n                    model phenotypes similar to\n                    <jats:italic>EMC1<\/jats:italic>\n                    loss of function likely due to a similar mechanism of dysfunction in transmembrane protein topogenesis.\n                  <\/jats:p>","DOI":"10.1002\/dvg.23520","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T12:24:40Z","timestamp":1686831880000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expanding\n                    <scp>EMC<\/scp>\n                    foldopathies: Topogenesis deficits alter the neural crest"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3377-7599","authenticated-orcid":false,"given":"Jonathan","family":"Marquez","sequence":"first","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiza","family":"Aslam","sequence":"additional","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa K.","family":"Khokha","sequence":"additional","affiliation":[{"name":"Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,15]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.144105.112"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2389-3"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2015.11.003"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI98688"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3512"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.119.002492"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.10.009"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1089\/crispr.2021.0113"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2016.08.002"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.352"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aao3099"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.01.012"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.011"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/cbf.290130404"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.9028"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aac9396"},{"key":"e_1_2_3_18_1","doi-asserted-by":"crossref","unstructured":"Hsiau T. Conant D. Rossi N. Maures T. Waite K. Yang J. \u2026Stoner R.(2019).Inference of CRISPR Edits from Sanger Trace Data.bioRxiv 251082.https:\/\/doi.org\/10.1101\/251082","DOI":"10.1101\/251082"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3970"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1167983"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/pdb.prot106351"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2020.10.001"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI129308"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2017.07.015"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.62611"},{"key":"e_1_2_3_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.013"},{"key":"e_1_2_3_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.03.009"},{"key":"e_1_2_3_28_1","volume-title":"Normal table of Xenopus laevis (Daudin); a systematical and chronological survey of the development from the fertilized egg till the end of metamorphosis","author":"Nieuwkoop P. 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