{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T21:44:39Z","timestamp":1774129479392,"version":"3.50.1"},"reference-count":72,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-CE12-0020"],"award-info":[{"award-number":["ANR-21-CE12-0020"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008164","name":"AFM","doi-asserted-by":"publisher","award":["AFM- 23777"],"award-info":[{"award-number":["AFM- 23777"]}],"id":[{"id":"10.13039\/100008164","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded RNAs and the activation of interferon-stimulated genes. In mice, the conditional neural crest deletion of Adar1 reduces the survival of melanocytes and alters the differentiation of Schwann cells that fail to myelinate nerve fibers in the peripheral nervous system. These myelination defects are partially rescued upon the concomitant removal of the Mda5 antiviral dsRNA sensor in vitro, suggesting implication of the Mda5\/Mavs pathway and downstream effectors in the genesis of Adar1 mutant phenotypes. By analyzing RNA-Seq data from the sciatic nerves of mouse pups after conditional neural crest deletion of Adar1 (Adar1cKO), we here identified the transcription factors deregulated in Adar1cKO mutants compared to the controls. Through Adar1;Mavs and Adar1cKO;Egr1 double-mutant mouse rescue analyses, we then highlighted that the aberrant activation of the Mavs adapter protein and overexpression of the early growth response 1 (EGR1) transcription factor contribute to the Adar1 deletion associated defects in Schwann cell development in vivo. In silico and in vitro gene regulation studies additionally suggested that EGR1 might mediate this inhibitory effect through the aberrant regulation of EGR2-regulated myelin genes. We thus demonstrate the role of the Mda5\/Mavs pathway, but also that of the Schwann cell transcription factors in Adar1-associated peripheral myelination defects.<\/jats:p>","DOI":"10.3390\/cells13231952","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T05:21:32Z","timestamp":1732512092000},"page":"1952","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout Mice"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6064-7581","authenticated-orcid":false,"given":"Lisa","family":"Zerad","sequence":"first","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3610-8123","authenticated-orcid":false,"given":"Nadjet","family":"Gacem","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Gayda","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Day","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ketty","family":"Sinigaglia","sequence":"additional","affiliation":[{"name":"Central European Institute for Technology, Masaryk University (CEITEC MU), Kamenice 735\/5, 625 00 Brno, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6835-8725","authenticated-orcid":false,"given":"Laurence","family":"Richard","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centre de Reference \u201cNeuropathies P\u00e9riph\u00e9riques Rares\u201d, CHU Limoges, 87000 Limoges, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Parisot","sequence":"additional","affiliation":[{"name":"Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24\/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9051-1896","authenticated-orcid":false,"given":"Nicolas","family":"Cagnard","sequence":"additional","affiliation":[{"name":"Bioinformatics Platform, Imagine Institute, INSERM UMR 1163, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0775-4625","authenticated-orcid":false,"given":"Stephane","family":"Mathis","sequence":"additional","affiliation":[{"name":"Department of Neurology (Nerve-Muscle Unit) and \u2018Grand Sud-Ouest\u2019 National Reference Center for Neuromuscular Disorders, CHU Bordeaux, Pellegrin Hospital, 33000 Bordeaux, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[{"name":"Genomics Core Facility, Institut Imagine-Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM U1163 et INSERM US24\/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary A.","family":"O\u2019Connell","sequence":"additional","affiliation":[{"name":"Central European Institute for Technology, Masaryk University (CEITEC MU), Kamenice 735\/5, 625 00 Brno, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7064-0765","authenticated-orcid":false,"given":"Veronique","family":"Pingault","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2794-7344","authenticated-orcid":false,"given":"Emilie","family":"Dambroise","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam P.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Central European Institute for Technology, Masaryk University (CEITEC MU), Kamenice 735\/5, 625 00 Brno, Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Michel","family":"Vallat","sequence":"additional","affiliation":[{"name":"Department of Neurology, Centre de Reference \u201cNeuropathies P\u00e9riph\u00e9riques Rares\u201d, CHU Limoges, 87000 Limoges, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1531-1544","authenticated-orcid":false,"given":"Nadege","family":"Bondurand","sequence":"additional","affiliation":[{"name":"Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, 24 Boulevard du Montparnasse, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Heraud-Farlow, J.E., and Walkley, C.R. (2020). What do editors do? Understanding the physiological functions of A-to-I RNA editing by adenosine deaminase acting on RNAs. Open Biol., 10.","DOI":"10.1098\/rsob.200085"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/j.tibs.2021.02.002","article-title":"ADAR RNA Modifications, the Epitranscriptome and Innate Immunity","volume":"46","author":"Quin","year":"2021","journal-title":"Trends Biochem. Sci."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Tassinari, V., Cerboni, C., and Soriani, A. (2022). Self or Non-Self? It Is also a Matter of RNA Recognition and Editing by ADAR1. Biology, 11.","DOI":"10.3390\/biology11040568"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Walkley, C.R., and Li, J.B. (2017). Rewriting the transcriptome: Adenosine-to-inosine RNA editing by ADARs. Genome Biol., 18.","DOI":"10.1186\/s13059-017-1347-3"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1111\/j.1346-8138.2012.01661.x","article-title":"Dyschromatosis symmetrica hereditaria","volume":"40","author":"Hayashi","year":"2013","journal-title":"J. Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1086\/378209","article-title":"Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria","volume":"73","author":"Miyamura","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1055\/s-0036-1592307","article-title":"Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutieres Syndrome and Beyond","volume":"47","author":"Livingston","year":"2016","journal-title":"Neuropediatrics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","article-title":"Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study","volume":"12","author":"Rice","year":"2013","journal-title":"Lancet Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/ng.2414","article-title":"Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature","volume":"44","author":"Rice","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1055\/s-0037-1601449","article-title":"Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease","volume":"48","author":"Rice","year":"2017","journal-title":"Neuropediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1084\/jem.20161596","article-title":"Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview","volume":"213","author":"Rodero","year":"2016","journal-title":"J. Exp. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1126\/science.aac7049","article-title":"RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself","volume":"349","author":"Liddicoat","year":"2015","journal-title":"Science"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.celrep.2014.10.041","article-title":"The RNA-editing enzyme ADAR1 controls innate immune responses to RNA","volume":"9","author":"Mannion","year":"2014","journal-title":"Cell Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/j.immuni.2015.11.001","article-title":"Isoforms of RNA-Editing Enzyme ADAR1 Independently Control Nucleic Acid Sensor MDA5-Driven Autoimmunity and Multi-organ Development","volume":"43","author":"Pestal","year":"2015","journal-title":"Immunity"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/s41586-022-04974-w","article-title":"ADAR1 prevents autoinflammation by suppressing spontaneous ZBP1 activation","volume":"607","author":"Verdonck","year":"2022","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41586-022-04896-7","article-title":"ADAR1 mutation causes ZBP1-dependent immunopathology","volume":"607","author":"Hubbard","year":"2022","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"109858","DOI":"10.1016\/j.celrep.2021.109858","article-title":"ADAR1 restricts ZBP1-mediated immune response and PANoptosis to promote tumorigenesis","volume":"37","author":"Karki","year":"2021","journal-title":"Cell Rep."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.1016\/j.immuni.2021.07.001","article-title":"Protein kinase R and the integrated stress response drive immunopathology caused by mutations in the RNA deaminase ADAR1","volume":"54","author":"Maurano","year":"2021","journal-title":"Immunity"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e109760","DOI":"10.15252\/embj.2021109760","article-title":"RNA sensing via the RIG-I-like receptor LGP2 is essential for the induction of a type I IFN response in ADAR1 deficiency","volume":"41","author":"Stok","year":"2022","journal-title":"EMBO J."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1038\/s41586-022-04753-7","article-title":"ADAR1 masks the cancer immunotherapeutic promise of ZBP1-driven necroptosis","volume":"606","author":"Zhang","year":"2022","journal-title":"Nature"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/s41577-023-00940-3","article-title":"Novel insights into double-stranded RNA-mediated immunopathology","volume":"24","author":"Maelfait","year":"2024","journal-title":"Nat. Rev. Immunol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"C1496","DOI":"10.1152\/ajpcell.00191.2022","article-title":"How RNA editing keeps an I on physiology","volume":"323","author":"Goldeck","year":"2022","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"102195","DOI":"10.1016\/j.gde.2024.102195","article-title":"RNA editing and immune control: From mechanism to therapy","volume":"86","author":"Hu","year":"2024","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1261\/rna.079953.124","article-title":"Multifaceted roles of RNA editing enzyme ADAR1 in innate immunity","volume":"30","author":"Jarmoskaite","year":"2024","journal-title":"RNA"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.ydbio.2011.12.042","article-title":"Development and evolution of the neural crest: An overview","volume":"366","author":"Bronner","year":"2012","journal-title":"Dev. Biol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"dev169821","DOI":"10.1242\/dev.169821","article-title":"The diverse neural crest: From embryology to human pathology","volume":"146","author":"Etchevers","year":"2019","journal-title":"Development"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/s41467-019-14090-5","article-title":"ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development","volume":"11","author":"Gacem","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Le Douarin, N.M., and Kalcheim, C. (1999). The Neural Crest, Cambridge University Press.","DOI":"10.1017\/CBO9780511897948"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"S25","DOI":"10.1016\/j.ydbio.2018.02.008","article-title":"Schwann cell precursor: A neural crest cell in disguise?","volume":"444","author":"Furlan","year":"2018","journal-title":"Dev. Biol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1883","DOI":"10.1002\/glia.22816","article-title":"Transcriptional control of neural crest specification into peripheral glia","volume":"63","author":"Jacob","year":"2015","journal-title":"Glia"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nrn1746","article-title":"The origin and development of glial cells in peripheral nerves","volume":"6","author":"Jessen","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0079-6123(01)32060-5","article-title":"Regulation of genes involved in Schwann cell development and differentiation","volume":"132","author":"Mirsky","year":"2001","journal-title":"Prog. Brain Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1002\/glia.22852","article-title":"New insights on Schwann cell development","volume":"63","author":"Monk","year":"2015","journal-title":"Glia"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Salzer, J.L. (2015). Schwann cell myelination. Cold Spring Harb. Perspect. Biol., 7.","DOI":"10.1101\/cshperspect.a020529"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.brainres.2015.09.025","article-title":"Schwann cells and their transcriptional network: Evolution of key regulators of peripheral myelination","volume":"1641","author":"Stolt","year":"2016","journal-title":"Brain Res."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1002\/glia.20767","article-title":"The molecular machinery of myelin gene transcription in Schwann cells","volume":"56","author":"Svaren","year":"2008","journal-title":"Glia"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/S0012-1606(03)00175-1","article-title":"The human tissue plasminogen activator-Cre mouse: A new tool for targeting specifically neural crest cells and their derivatives in vivo","volume":"259","author":"Pietri","year":"2003","journal-title":"Dev. Biol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1210\/mend.12.1.0049","article-title":"Multiple pituitary and ovarian defects in Krox-24 (NGFI-A, Egr-1)-targeted mice","volume":"12","author":"Topilko","year":"1998","journal-title":"Mol. Endocrinol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"3246","DOI":"10.1093\/bioinformatics\/bth349","article-title":"Java Treeview--Extensible visualization of microarray data","volume":"20","author":"Saldanha","year":"2004","journal-title":"Bioinformatics"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/2051-5960-2-42","article-title":"Optimization of electron microscopy for human brains with long-term fixation and fixed-frozen sections","volume":"2","author":"Liu","year":"2014","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2719","DOI":"10.1016\/j.celrep.2017.08.064","article-title":"Changes in the Coding and Non-coding Transcriptome and DNA Methylome that Define the Schwann Cell Repair Phenotype after Nerve Injury","volume":"20","author":"Morgan","year":"2017","journal-title":"Cell Rep."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Kim, Y., Remacle, A.G., Chernov, A.V., Liu, H., Shubayev, I., Lai, C., Dolkas, J., Shiryaev, S.A., Golubkov, V.S., and Mizisin, A.P. (2012). The MMP-9\/TIMP-1 axis controls the status of differentiation and function of myelin-forming Schwann cells in nerve regeneration. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0033664"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"D1040","DOI":"10.1093\/nar\/gks1215","article-title":"Interferome v2.0: An updated database of annotated interferon-regulated genes","volume":"41","author":"Rusinova","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1101\/gr.249680.119","article-title":"Heterodimerization of TFAP2 pioneer factors drives epigenomic remodeling during neural crest specification","volume":"30","author":"Rothstein","year":"2020","journal-title":"Genome Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1161\/CIRCRESAHA.122.320839","article-title":"ADAR1 Prevents Autoinflammatory Processes in the Heart Mediated by IRF7","volume":"131","author":"Dieterich","year":"2022","journal-title":"Circ. Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1002\/(SICI)1097-4547(19971201)50:5<702::AID-JNR7>3.0.CO;2-L","article-title":"Differential regulation of the zinc finger genes Krox-20 and Krox-24 (Egr-1) suggests antagonistic roles in Schwann cells","volume":"50","author":"Topilko","year":"1997","journal-title":"J. Neurosci. Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"Dixon","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ydbio.2014.04.013","article-title":"Directed Bmp4 expression in neural crest cells generates a genetic model for the rare human bony syngnathia birth defect","volume":"391","author":"He","year":"2014","journal-title":"Dev. Biol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"29760","DOI":"10.1074\/jbc.M113.493551","article-title":"Noncanonical transforming growth factor beta (TGFbeta) signaling in cranial neural crest cells causes tongue muscle developmental defects","volume":"288","author":"Iwata","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/371796a0","article-title":"Krox-20 controls myelination in the peripheral nervous system","volume":"371","author":"Topilko","year":"1994","journal-title":"Nature"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1111\/j.1471-4159.2010.07045.x","article-title":"Locus-wide identification of Egr2\/Krox20 regulatory targets in myelin genes","volume":"115","author":"Jang","year":"2010","journal-title":"J. Neurochem."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"6449","DOI":"10.1093\/nar\/gks313","article-title":"Genome-wide analysis of EGR2\/SOX10 binding in myelinating peripheral nerve","volume":"40","author":"Srinivasan","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"4566","DOI":"10.1128\/MCB.16.8.4566","article-title":"Unimpaired macrophage differentiation and activation in mice lacking the zinc finger transplantation factor NGFI-A (EGR1)","volume":"16","author":"Lee","year":"1996","journal-title":"Mol. Cell Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Consortium","year":"2012","journal-title":"Nature"},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Duclot, F., and Kabbaj, M. (2017). The Role of Early Growth Response 1 (EGR1) in Brain Plasticity and Neuropsychiatric Disorders. Front. Behav. Neurosci., 11.","DOI":"10.3389\/fnbeh.2017.00035"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1007\/s00439-017-1837-0","article-title":"ADAR RNA editing in human disease; more to it than meets the I","volume":"136","author":"Gallo","year":"2017","journal-title":"Hum. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Lamers, M.M., van den Hoogen, B.G., and Haagmans, B.L. (2019). ADAR1: \u201cEditor-in-Chief\u201d of Cytoplasmic Innate Immunity. Front. Immunol., 10.","DOI":"10.3389\/fimmu.2019.01763"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4894","DOI":"10.1074\/jbc.M311347200","article-title":"Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1","volume":"279","author":"Hartner","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.cell.2017.12.038","article-title":"Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown","volume":"172","author":"Chung","year":"2018","journal-title":"Cell"},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Balakrishnan, A., Belfiore, L., Chu, T.H., Fleming, T., Midha, R., Biernaskie, J., and Schuurmans, C. (2020). Insights Into the Role and Potential of Schwann Cells for Peripheral Nerve Repair From Studies of Development and Injury. Front. Mol. Neurosci., 13.","DOI":"10.3389\/fnmol.2020.608442"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1146\/annurev-cellbio-100913-013101","article-title":"Myelination of the nervous system: Mechanisms and functions","volume":"30","author":"Nave","year":"2014","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1083\/jcb.200804136","article-title":"Switching myelination on and off","volume":"181","author":"Salzer","year":"2008","journal-title":"J. Cell Biol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1038\/cdd.2009.11","article-title":"The transcription factors Egr1 and Egr2 have opposing influences on adipocyte differentiation","volume":"16","author":"Boyle","year":"2009","journal-title":"Cell Death Differ."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Havis, E., and Duprez, D. (2020). EGR1 Transcription Factor is a Multifaceted Regulator of Matrix Production in Tendons and Other Connective Tissues. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21051664"},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Wang, B., Guo, H., Yu, H., Chen, Y., Xu, H., and Zhao, G. (2021). The Role of the Transcription Factor EGR1 in Cancer. Front. Oncol., 11.","DOI":"10.3389\/fonc.2021.642547"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Zhu, Z., Du, X., Li, P., Zhang, X., Yang, F., Cao, W., Tian, H., Zhang, K., Liu, X., and Zheng, H. (2018). Early Growth Response Gene-1 Suppresses Foot-and-Mouth Disease Virus Replication by Enhancing Type I Interferon Pathway Signal Transduction. Front. Microbiol., 9.","DOI":"10.3389\/fmicb.2018.02326"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"eaaz8836","DOI":"10.1126\/sciadv.aaz8836","article-title":"EGR1 is a gatekeeper of inflammatory enhancers in human macrophages","volume":"7","author":"Trizzino","year":"2021","journal-title":"Sci. Adv."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1046\/j.0953-816x.2001.01650.x","article-title":"Developmental regulation and overexpression of the transcription factor AP-2, a potential regulator of the timing of Schwann cell generation","volume":"14","author":"Stewart","year":"2001","journal-title":"Eur. J. Neurosci."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2361","DOI":"10.1038\/s41467-019-10287-w","article-title":"Ep400 deficiency in Schwann cells causes persistent expression of early developmental regulators and peripheral neuropathy","volume":"10","author":"Frob","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1084\/jem.20122005","article-title":"Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice","volume":"210","author":"Musner","year":"2013","journal-title":"J. Exp. Med."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.nbd.2004.10.023","article-title":"Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation","volume":"18","author":"Buchstaller","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1529-8027.2011.00360.x","article-title":"c-Jun expression in human neuropathies: A pilot study","volume":"16","author":"Hutton","year":"2011","journal-title":"J. Peripher. Nerv. Syst."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/23\/1952\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:38:17Z","timestamp":1760114297000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/13\/23\/1952"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,23]]},"references-count":72,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["cells13231952"],"URL":"https:\/\/doi.org\/10.3390\/cells13231952","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,23]]}}}