{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:40:14Z","timestamp":1790278814310,"version":"4.1.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"11","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P40 OD010440"],"award-info":[{"award-number":["P40 OD010440"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["093329"],"award-info":[{"award-number":["093329"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008496","name":"The Catholic University of America","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008496","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Weatherall Institute of Molecular Medicine Strategic Alliance","award":["G0902418, MC_UU_12025"],"award-info":[{"award-number":["G0902418, MC_UU_12025"]}]},{"name":"National Institute for Health Research Oxford Biomedical Research Centre Programme"},{"name":"Investigator Award","award":["102731"],"award-info":[{"award-number":["102731"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"DOI":"10.1093\/hmg\/ddx107","type":"journal-article","created":{"date-parts":[[2017,3,24]],"date-time":"2017-03-24T05:15:40Z","timestamp":1490332540000},"page":"2118-2132","source":"Crossref","is-referenced-by-count":29,"title":["Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans"],"prefix":"10.1093","volume":"26","author":[{"given":"Sharon","family":"Kim","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen R.F.","family":"Twigg","sequence":"additional","affiliation":[{"name":"Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria A.","family":"Scanlon","sequence":"additional","affiliation":[{"name":"Department of Biology, The Catholic University of America, Washington, DC 20064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditi","family":"Chandra","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler J.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arwa","family":"Alsubait","sequence":"additional","affiliation":[{"name":"Department of Biology, The Catholic University of America, Washington, DC 20064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimee L.","family":"Fenwick","sequence":"additional","affiliation":[{"name":"Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J.","family":"McGowan","sequence":"additional","affiliation":[{"name":"Computational Biology Research Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Lord","sequence":"additional","affiliation":[{"name":"Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Lester","sequence":"additional","affiliation":[{"name":"Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Liverpool Women\u2019s NHS Foundation Trust, Liverpool L8 7SS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Liverpool Women\u2019s NHS Foundation Trust, Liverpool L8 7SS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Birmingham Women\u2019s NHS Foundation Trust, Birmingham Women\u2019s Hospital, Birmingham B15 2TG, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew O.M.","family":"Wilkie","sequence":"additional","affiliation":[{"name":"Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy","family":"Golden","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Genetics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann K.","family":"Corsi","sequence":"additional","affiliation":[{"name":"Department of Biology, The Catholic University of America, Washington, DC 20064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,3,27]]},"reference":[{"key":"key\n\t\t\t\t20180803083043_ddx107-B1","doi-asserted-by":"crossref","first-page":"RESEARCH0030.","DOI":"10.1186\/gb-2002-3-6-research0030","article-title":"Phylogenetic analysis of the human basic helix-loop-helix proteins","volume":"3","author":"Ledent","year":"2002","journal-title":"Genome Biol"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B2","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1093\/genetics\/105.3.615","article-title":"Maternal-zygotic gene interactions during formation of the dorsoventral pattern in Drosophila embryos","volume":"105","author":"Simpson","year":"1983","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B3","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1101\/gad.12.16.2623","article-title":"Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning","volume":"12","author":"Harfe","year":"1998","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B4","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/nar\/gkq890","article-title":"Redundant or separate entities? Roles of Twist1 and Twist2 as molecular switches during gene transcription","volume":"39","author":"Franco","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B5","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ajhg.2010.07.009","article-title":"Homozygous nonsense mutations in TWIST2 cause Setleis syndrome","volume":"87","author":"Tukel","year":"2010","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B6","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2015.05.017","article-title":"Recurrent mutations in the basic domain of TWIST2 cause Ablepharon Macrostomia and Barber-Say syndromes","volume":"97","author":"Marchegiani","year":"2015","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B7","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1002\/ajmg.a.37757","article-title":"Barber-Say syndrome and Ablepharon-Macrostomia syndrome, an overview","volume":"170","author":"De Maria","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B8","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1242\/dev.129.11.2761","article-title":"Characterization of a dominant negative C. elegans Twist mutant protein with implications for human Saethre-Chotzen syndrome","volume":"129","author":"Corsi","year":"2002","journal-title":"Development"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B9","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1242\/dev.127.10.2041","article-title":"Caenorhabditis elegans twist plays an essential role in non-striated muscle development","volume":"127","author":"Corsi","year":"2000","journal-title":"Development"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B10","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1093\/med\/9780199934522.003.0063","volume-title":"Epstein\u2019s Inborn Errors of Development, The Molecular Basis of Clinical Disorders of Morphogenesis","author":"Jabs","year":"2016"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B11","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre-Chotzen syndrome","volume":"15","author":"el Ghouzzi","year":"1997","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B12","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng0197-36","article-title":"Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome","volume":"15","author":"Howard","year":"1997","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B13","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1086\/302122","article-title":"A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1","volume":"63","author":"Johnson","year":"1998","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B14","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2016-104215","article-title":"Diagnostic value of exome and whole genome sequencing in craniosynostosis","author":"Miller","year":"2017","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B15","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature11690","article-title":"Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants","volume":"493","author":"Fu","year":"2013","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B16","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.ajhg.2012.04.002","article-title":"A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome","volume":"90","author":"Rieder","year":"2012","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B17","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1136\/jmedgenet-2012-101331","article-title":"Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome","volume":"50","author":"Gordon","year":"2013","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B18","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1534\/genetics.115.182162","article-title":"CRISPR-based methods for Caenorhabditis elegans genome engineering","volume":"202","author":"Dickinson","year":"2016","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B19","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/301855","article-title":"Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations","volume":"62","author":"Paznekas","year":"1998","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B20","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1097\/01.PRS.0000165278.72168.51","article-title":"Clinical and genetic analysis of patients with Saethre-Chotzen syndrome","volume":"115","author":"de Heer","year":"2005","journal-title":"Plast. Reconstr. Surg"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B21","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1373\/clinchem.2007.089292","article-title":"Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis","volume":"53","author":"Stenirri","year":"2007","journal-title":"Clin. Chem"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B22","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1093\/genetics\/124.4.855","article-title":"Genetic analysis of defecation in Caenorhabditis elegans","volume":"124","author":"Thomas","year":"1990","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B23","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1016\/S0960-9822(00)00867-8","article-title":"A novel bacterial pathogen, Microbacterium nematophilum, induces morphological change in the nematode C. elegans","volume":"10","author":"Hodgkin","year":"2000","journal-title":"Curr. Biol"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B24","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/0012-1606(77)90158-0","article-title":"Post-embryonic cell lineages of the nematode, Caenorhabditis elegans","volume":"56","author":"Sulston","year":"1977","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B25","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1101\/gad.923102","article-title":"The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscles in C. elegans","volume":"16","author":"Kostas","year":"2002","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B26","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/dev.113.3.797","article-title":"A normally attractive cell interaction is repulsive in two C. elegans mesodermal cell migration mutants","volume":"113","author":"Stern","year":"1991","journal-title":"Development"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B27","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.ydbio.2005.10.011","article-title":"Identification of novel target genes of CeTwist and CeE\/DA","volume":"293","author":"Wang","year":"2006","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B28","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/nm1725","article-title":"Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function","volume":"14","author":"Jones","year":"2008","journal-title":"Nat. Med"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B29","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.ajhg.2015.03.011","article-title":"Acrofacial dysostosis, Cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction","volume":"96","author":"Weaver","year":"2015","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B30","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/cge.12596","article-title":"A review of craniofacial disorders caused by spliceosomal defects","volume":"88","author":"Lehalle","year":"2015","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B31","doi-asserted-by":"crossref","first-page":"R50","DOI":"10.1093\/hmg\/ddv228","article-title":"New insights into craniofacial malformations","volume":"24","author":"Twigg","year":"2015","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B32","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1101\/gad.9.6.686","article-title":"twist is required in head mesenchyme for cranial neural tube morphogenesis","volume":"9","author":"Chen","year":"1995","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B33","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/ng.3469","article-title":"Timing, rates and spectra of human germline mutation","volume":"48","author":"Rahbari","year":"2016","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B34","doi-asserted-by":"crossref","first-page":"18650","DOI":"10.1073\/pnas.0907688106","article-title":"Experimental determination of the evolvability of a transcription factor","volume":"106","author":"Maerkl","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B35","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1172\/JCI71927","article-title":"A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells","volume":"123","author":"Boisson","year":"2013","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B36","doi-asserted-by":"crossref","first-page":"6544","DOI":"10.1073\/pnas.0910200107","article-title":"Systematic discovery of nonobvious human disease models through orthologous phenotypes","volume":"107","author":"McGary","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B37","doi-asserted-by":"crossref","first-page":"203.","DOI":"10.1186\/1471-2105-14-203","article-title":"Prediction of gene-phenotype associations in humans, mice, and plants using phenologs","volume":"14","author":"Woods","year":"2013","journal-title":"BMC Bioinformatics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B38","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/dvdy.23734","article-title":"Distinct Caenorhabditis elegans HLH-8\/twist-containing dimers function in the mesoderm","volume":"241","author":"Philogene","year":"2012","journal-title":"Dev. Dyn"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B39","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.1923","article-title":"Fast gapped-read alignment with Bowtie 2","volume":"9","author":"Langmead","year":"2012","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B40","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":"key\n\t\t\t\t20180803083043_ddx107-B41","doi-asserted-by":"crossref","first-page":"e164.","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR, functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucl. Acid Res"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B42","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1534\/genetics.114.166389","article-title":"A co-CRISPR strategy for efficient genome editing in Caenorhabditis elegans","volume":"197","author":"Kim","year":"2014","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B43","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1038\/nmeth.2641","article-title":"Engineering the Caenorhabditis elegans genome using Cas9-triggered homologous recombination","volume":"10","author":"Dickinson","year":"2013","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B44","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1534\/genetics.114.169730","article-title":"Efficient marker-free recovery of custom genetic modifications with CRISPR\/Cas9 in Caenorhabditis elegans","volume":"198","author":"Arribere","year":"2014","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B45","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1534\/genetics.115.179382","article-title":"High efficiency, homology-directed genome editing in Caenorhabditis elegans using CRISPR-Cas9 ribonucleoprotein complexes","volume":"201","author":"Paix","year":"2015","journal-title":"Genetics"},{"key":"key\n\t\t\t\t20180803083043_ddx107-B46","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.mod.2007.01.005","article-title":"The C. elegans Twist target gene, arg-1, is regulated by distinct E box promoter elements","volume":"124","author":"Zhao","year":"2007","journal-title":"Mech. Dev"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/11\/2118\/25420516\/ddx107.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T21:02:22Z","timestamp":1658869342000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/11\/2118\/3091092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,27]]},"references-count":46,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2017,3,27]]},"published-print":{"date-parts":[[2017,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx107","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,6,1]]},"published":{"date-parts":[[2017,3,27]]}}}