{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:12:00Z","timestamp":1790521920060,"version":"4.1.0"},"reference-count":49,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T00:00:00Z","timestamp":1581984000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"DOI":"10.3389\/fphys.2020.00075","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T00:54:02Z","timestamp":1581987242000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":25,"title":["Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos"],"prefix":"10.3389","volume":"11","author":[{"given":"Hava","family":"Lichtig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artyom","family":"Artamonov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Polevoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine D.","family":"Reid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Bielas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,2,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1242\/dev.00905","article-title":"Xenopus Meis3 protein forms a hindbrain-inducing center by activating FGF\/MAP kinase and PCP pathways.","volume":"131","author":"Aamar","year":"2004","journal-title":"Development"},{"key":"B2","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies.","volume":"501","author":"Allen","year":"2013","journal-title":"Nature"},{"key":"B3","doi-asserted-by":"publisher","first-page":"119","DOI":"10.4161\/cc.11.1.18475","article-title":"The HARE-HTH and associated domains: novel modules in the coordination of epigenetic DNA and protein modifications.","volume":"11","author":"Aravind","year":"2012","journal-title":"Cell Cycle"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2200","DOI":"10.1093\/hmg\/ddt072","article-title":"Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.","volume":"22","author":"Awad","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1002\/bdr2.1191","article-title":"Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.","volume":"3","author":"Bacrot","year":"2018","journal-title":"Birth Defects Res."},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1186\/gm415","article-title":"De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.","volume":"5","author":"Bainbridge","year":"2013","journal-title":"Genome Med."},{"key":"B7","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1136\/jmedgenet-2016-104360","article-title":"Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.","volume":"54","author":"Balasubramanian","year":"2017","journal-title":"J. Med. Genet."},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004750","article-title":"Functional conservation of Asxl2, a murine homolog for the Drosophila enhancer of trithorax and polycomb group gene Asx.","volume":"4","author":"Baskind","year":"2009","journal-title":"PLoS One"},{"key":"B9","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1242\/dev.095984","article-title":"PTK7 modulates Wnt signaling activity via LRP6.","volume":"141","author":"Bin-Nun","year":"2014","journal-title":"Development"},{"key":"B10","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1006\/dbio.1997.8795","article-title":"Paraxial-fated mesoderm is required for neural crest induction in Xenopus embryos.","volume":"193","author":"Bonstein","year":"1998","journal-title":"Dev. Biol."},{"key":"B11","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism.","volume":"515","author":"De Rubeis","year":"2014","journal-title":"Nature"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1038\/nsmb.2669","article-title":"Transcriptional regulation by Polycomb group proteins.","volume":"20","author":"Di Croce","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"B13","doi-asserted-by":"crossref","first-page":"3415","DOI":"10.1242\/dev.128.18.3415","article-title":"XMeis3 protein activity is required for proper hindbrain patterning in Xenopus laevis embryos.","volume":"126","author":"Dibner","year":"2001","journal-title":"Development"},{"key":"B14","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ydbio.2004.02.029","article-title":"The Meis3 protein and retinoid signaling interact to pattern the Xenopus hindbrain.","volume":"271","author":"Dibner","year":"2004","journal-title":"Dev. Biol."},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-6-32","article-title":"De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.","volume":"6","author":"Dinwiddie","year":"2013","journal-title":"BMC Med. Genomics"},{"key":"B16","doi-asserted-by":"publisher","first-page":"3731","DOI":"10.1242\/dev.037689","article-title":"FGF signalling: diverse roles during early vertebrate embryogenesis.","volume":"137","author":"Dorey","year":"2010","journal-title":"Development"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1242\/dev.044750","article-title":"Mesodermal Wnt signaling organizes the neural plate via Meis3.","volume":"137","author":"Elkouby","year":"2010","journal-title":"Development"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.4199\/c00015ed1v01y201007deb004","article-title":"Wnt\/\u03b2-catenin-signaling in vertebrate posterior neural development","author":"Elkouby","year":"2010","journal-title":"Colloquium Series on Developmental Biology"},{"key":"B19","doi-asserted-by":"publisher","first-page":"1487","DOI":"10.1242\/dev.072934","article-title":"A hindbrain-repressive Wnt3a\/Meis3\/Tsh1 circuit promotes neuronal differentiation and coordinates tissue maturation.","volume":"139","author":"Elkouby","year":"2012","journal-title":"Development"},{"key":"B20","doi-asserted-by":"crossref","first-page":"4513","DOI":"10.1242\/dev.126.20.4513","article-title":"The homeobox gene, Xanf-1, can control both neural differentiation and patterning in the presumptive anterior neurectoderm of the Xenopus laevis embryo.","volume":"126","author":"Ermakova","year":"1999","journal-title":"Development"},{"key":"B21","doi-asserted-by":"publisher","first-page":"4183","DOI":"10.1242\/dev.157644","article-title":"PFKFB4 control of AKT signaling is essential for premigratory and migratory neural crest formation.","volume":"144","author":"Figueiredo","year":"2017","journal-title":"Development"},{"key":"B22","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.ydbio.2009.10.004","article-title":"Additional sex combs-like 1 belongs to the enhancer of trithorax and polycomb group and genetically interacts with Cbx2 in mice.","volume":"337","author":"Fisher","year":"2010","journal-title":"Dev. Biol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.gene.2005.10.033","article-title":"Characterization of Asxl1, a murine homolog of Additional sex combs, and analysis of the Asx-like gene family.","volume":"369","author":"Fisher","year":"2006","journal-title":"Gene"},{"key":"B24","doi-asserted-by":"publisher","first-page":"2409","DOI":"10.1091\/mbc.e10-12-0932","article-title":"Focal adhesion kinase protein regulates Wnt3a gene expression to control cell fate specification in the developing neural plate.","volume":"22","author":"Fonar","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"B25","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1007\/s00018-018-2974-x","article-title":"Hindbrain induction during early vertebrate development.","volume":"76","author":"Frank","year":"2019","journal-title":"Cell. Mol. Life Sci."},{"key":"B26","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1038\/nature13921","article-title":"An AUTS2-polycomb complex activates gene expression in the CNS.","volume":"516","author":"Gao","year":"2014","journal-title":"Nature"},{"key":"B27","doi-asserted-by":"publisher","first-page":"2099","DOI":"10.1534\/genetics.107.075739","article-title":"A genetic screen identifies novel polycomb group genes in Drosophila.","volume":"176","author":"Gayt\u00e1n de Ayala Alonso","year":"2007","journal-title":"Genetics"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1186\/1756-8722","article-title":"Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.","volume":"5","author":"Gelsi-Boyer","year":"2012","journal-title":"J. Hematol. Oncol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/j.ydbio.2009.11.024","article-title":"Xenopus Meis3 protein lies at a nexus downstream to Zic1 and Pax3 proteins, regulating multiple cell-fates during early nervous system development.","volume":"338","author":"Gutkovich","year":"2010","journal-title":"Dev. Biol."},{"key":"B30","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1016\/s0091-679x(08)60307-6","article-title":"In situ hybridization: an improved whole-mount method for Xenopus embryos.","volume":"36","author":"Harland","year":"1991","journal-title":"Methods Cell Biol."},{"key":"B31","doi-asserted-by":"publisher","first-page":"1863","DOI":"10.1002\/ajmg.a.37653","article-title":"Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.","volume":"170","author":"Hori","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1007\/s00018-014-1815-9","article-title":"Retinoic acid signaling and neuronal differentiation.","volume":"72","author":"Janesick","year":"2015","journal-title":"Cell. Mol. Life Sci."},{"key":"B33","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/bjc.2013.281","article-title":"Functional and cancer genomics of ASXL family members.","volume":"109","author":"Katoh","year":"2013","journal-title":"Br. J. Cancer"},{"key":"B34","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1586\/14789450.2015.1033409","article-title":"Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.","volume":"12","author":"Katoh","year":"2015","journal-title":"Expert Rev. Proteomics"},{"key":"B35","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1038\/mp.2012.58","article-title":"A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.","volume":"18","author":"Ku","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"B36","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/ejhg.2016.165","article-title":"Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.","volume":"25","author":"Kuechler","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073983","article-title":"Additional sex combs-like 2 is required for polycomb repressive complex 2 binding at select targets.","volume":"8","author":"Lai","year":"2013","journal-title":"PLoS One"},{"key":"B38","doi-asserted-by":"crossref","first-page":"5019","DOI":"10.1242\/dev.125.24.5019","article-title":"XBF-2 is a transcriptional repressor that converts ectoderm into neural tissue.","volume":"125","author":"Mariani","year":"1998","journal-title":"Development"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.15252\/embr.201845842","article-title":"New roles for Wnt and BMP signaling in neural anteroposterior patterning.","volume":"20","author":"Polevoy","year":"2019","journal-title":"EMBO Rep."},{"key":"B40","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1387\/ijdb.160300df","article-title":"FoxD1 protein interacts with Wnt and BMP signaling to differentially pattern mesoderm and neural tissue.","volume":"61","author":"Polevoy","year":"2017","journal-title":"Int. J. Dev. Biol."},{"key":"B41","doi-asserted-by":"publisher","first-page":"12141","DOI":"10.1073\/pnas.92.26.12141","article-title":"Competition between noggin and bone morphogenetic protein 4 activities may regulate dorsalization during Xenopus development.","volume":"92","author":"Re\u2019em-Kalma","year":"1995","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1186\/gm420","article-title":"Expanding our knowledge of conditions associated with the ASXL gene family.","volume":"5","author":"Russell","year":"2013","journal-title":"Genome Med."},{"key":"B43","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/s0925-4773(98)00187-7","article-title":"A Meis family protein caudalizes neural cell fates in Xenopus.","volume":"80","author":"Salzberg","year":"1999","journal-title":"Mech. Dev."},{"key":"B44","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/nature08966","article-title":"Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB.","volume":"465","author":"Scheuermann","year":"2010","journal-title":"Nature"},{"key":"B45","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1016\/j.ajhg.2016.08.017","article-title":"De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype.","volume":"99","author":"Shashi","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"B46","doi-asserted-by":"publisher","first-page":"3664","DOI":"10.1038\/sj.emboj.7601238","article-title":"Xenopus laevis POU91 protein, an Oct3\/4 homologue, regulates competence transitions from mesoderm to neural cell-fates.","volume":"25","author":"Snir","year":"2006","journal-title":"EMBO J."},{"key":"B47","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.tig.2017.06.002","article-title":"Histone H2A monoubiquitination in neurodevelopmental disorders.","volume":"33","author":"Srivastava","year":"2017","journal-title":"Trends Genet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1093\/hmg\/ddv499","article-title":"De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.","volume":"25","author":"Srivastava","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"B49","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/nrg3241","article-title":"De novo mutations in human genetic disease.","volume":"13","author":"Veltman","year":"2012","journal-title":"Nat. Rev. Genet."}],"container-title":["Frontiers in Physiology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fphys.2020.00075\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,15]],"date-time":"2022-10-15T16:32:10Z","timestamp":1665851530000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fphys.2020.00075\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,18]]},"references-count":49,"alternative-id":["10.3389\/fphys.2020.00075"],"URL":"https:\/\/doi.org\/10.3389\/fphys.2020.00075","relation":{},"ISSN":["1664-042X"],"issn-type":[{"value":"1664-042X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,18]]},"article-number":"75"}}