{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:48:03Z","timestamp":1791085683993,"version":"4.1.0"},"reference-count":70,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2012,2,20]],"date-time":"2012-02-20T00:00:00Z","timestamp":1329696000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0031650","type":"journal-article","created":{"date-parts":[[2012,2,20]],"date-time":"2012-02-20T22:13:09Z","timestamp":1329775989000},"page":"e31650","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":79,"title":["Role of Chd7 in Zebrafish: A Model for CHARGE Syndrome"],"prefix":"10.1371","volume":"7","author":[{"given":"Shunmoogum A.","family":"Patten","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole L.","family":"Jacobs-McDaniels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Zaouter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Drapeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Craig","family":"Albertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florina","family":"Moldovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2012,2,20]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","article-title":"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.","volume":"36","author":"LE Vissers","year":"2004","journal-title":"Nat Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.jpeds.2005.10.044","article-title":"Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.","volume":"148","author":"M Aramaki","year":"2006","journal-title":"J Pediatr"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","article-title":"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.","volume":"78","author":"SR Lalani","year":"2006","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.2005.036160","article-title":"Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.","volume":"43","author":"D Sanlaville","year":"2006","journal-title":"J Med Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","article-title":"CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.","volume":"43","author":"MC Jongmans","year":"2006","journal-title":"J Med Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2350-6-8","article-title":"SNP genotyping to screen for a common deletion in CHARGE syndrome.","volume":"6","author":"SR Lalani","year":"2005","journal-title":"BMC Med Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.ejmg.2009.02.005","article-title":"Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.","volume":"52","author":"J Wincent","year":"2009","journal-title":"Eur J Med Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1097\/GIM.0b013e318156e68e","article-title":"Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.","volume":"9","author":"P Vuorela","year":"2007","journal-title":"Genet Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.ejmg.2010.07.002","article-title":"Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.","volume":"53","author":"K Wessels","year":"2010","journal-title":"Eur J Med Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.a.30540","article-title":"CHARGE syndrome: 2005.","volume":"133A","author":"JC Carey","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1750-1172-1-34","article-title":"CHARGE syndrome.","volume":"1","author":"KD Blake","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.mrfmmm.2006.07.012","article-title":"The Chd family of chromatin remodelers.","volume":"618","author":"CG Marfella","year":"2007","journal-title":"Mutat Res"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.jmb.2007.06.007","article-title":"Solution structure of the BRK domains from CHD7.","volume":"371","author":"MD Allen","year":"2007","journal-title":"J Mol Biol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1101\/gr.086983.108","article-title":"Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.","volume":"19","author":"MP Schnetz","year":"2009","journal-title":"Genome Res"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"e1000217","DOI":"10.1371\/journal.pgen.1000217","article-title":"Drosophila Kismet regulates histone H3 lysine 27 methylation and early elongation by RNA polymerase II.","volume":"4","author":"S Srinivasan","year":"2008","journal-title":"PLoS Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1038\/ncb1647","article-title":"A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation.","volume":"9","author":"I Takada","year":"2007","journal-title":"Nat Cell Biol"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/nature08733","article-title":"CHD7 cooperates with PBAF to control multipotent neural crest formation.","volume":"463","author":"R Bajpai","year":"2010","journal-title":"Nature"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"3463","DOI":"10.1093\/hmg\/ddi375","article-title":"Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.","volume":"14","author":"EA Bosman","year":"2005","journal-title":"Hum Mol Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"2272","DOI":"10.1002\/dvdy.22722","article-title":"Chd7 plays a critical role in controlling left-right symmetry during zebrafish somitogenesis.","volume":"240","author":"NL Jacobs-McDaniels","year":"2011","journal-title":"Dev Dyn"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1086\/513571","article-title":"CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.","volume":"80","author":"X Gao","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ab.2004.02.002","article-title":"An Alizarin red-based assay of mineralization by adherent cells in culture: comparison with cetylpyridinium chloride extraction.","volume":"329","author":"CA Gregory","year":"2004","journal-title":"Anal Biochem"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/79951","article-title":"Effective targeted gene \u2018knockdown\u2019 in zebrafish.","volume":"26","author":"A Nasevicius","year":"2000","journal-title":"Nat Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/78062","article-title":"Mesp2 initiates somite segmentation through the Notch signalling pathway.","volume":"25","author":"Y Takahashi","year":"2000","journal-title":"Nat Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1242\/dev.128.8.1391","article-title":"The role of presenilin 1 during somite segmentation.","volume":"128","author":"K Koizumi","year":"2001","journal-title":"Development"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1002\/dvdy.20814","article-title":"fused-somites-like mutants exhibit defects in trunk vessel patterning.","volume":"235","author":"KM Shaw","year":"2006","journal-title":"Dev Dyn"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1242\/dev.129.4.973","article-title":"Patterning of angiogenesis in the zebrafish embryo.","volume":"129","author":"S Childs","year":"2002","journal-title":"Development"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"3139","DOI":"10.1242\/dev.047894","article-title":"The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear.","volume":"137","author":"EA Hurd","year":"2010","journal-title":"Development"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/bdra.20330","article-title":"Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.","volume":"79","author":"M Aramaki","year":"2007","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"4253","DOI":"10.1093\/hmg\/ddq348","article-title":"Kismet\/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome.","volume":"19","author":"DJ Melicharek","year":"2010","journal-title":"Hum Mol Genet"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"e8481","DOI":"10.1371\/journal.pone.0008481","article-title":"Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.","volume":"4","author":"HE Christiansen","year":"2009","journal-title":"PLoS One"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/j.ydbio.2006.08.016","article-title":"Inhibition of BMP signaling during zebrafish fin regeneration disrupts fin growth and scleroblasts differentiation and function.","volume":"299","author":"A Smith","year":"2006","journal-title":"Dev Biol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1093\/hmg\/ddp112","article-title":"Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.","volume":"18","author":"WS Layman","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref33","first-page":"283","article-title":"The CHARGE association in a newborn infant.","volume":"40","author":"M Akisu","year":"1998","journal-title":"Turk J Pediatr"},{"key":"ref34","first-page":"1115","article-title":"[CHARGE association].","volume":"1","author":"S Ben Becher","year":"1994","journal-title":"Arch Pediatr"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1097\/00019605-199607000-00001","article-title":"Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism.","volume":"5","author":"TD Van Meter","year":"1996","journal-title":"Clin Dysmorphol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1242\/dev.109.3.567","article-title":"Early onset of phenotype and cell patterning in the embryonic zebrafish retina.","volume":"109","author":"KD Larison","year":"1990","journal-title":"Development"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1242\/dev.127.10.2177","article-title":"The zebrafish young mutation acts non-cell-autonomously to uncouple differentiation from specification for all retinal cells.","volume":"127","author":"BA Link","year":"2000","journal-title":"Development"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"2479","DOI":"10.1242\/dev.00465","article-title":"N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites.","volume":"130","author":"I Masai","year":"2003","journal-title":"Development"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1002\/dvdy.10266","article-title":"N-cadherin is essential for retinal lamination in the zebrafish.","volume":"226","author":"B Erdmann","year":"2003","journal-title":"Dev Dyn"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/(SICI)1096-9861(19990222)404:4<515::AID-CNE8>3.0.CO;2-A","article-title":"Early retinal development in the zebrafish, Danio rerio: light and electron microscopic analyses.","volume":"404","author":"EA Schmitt","year":"1999","journal-title":"J Comp Neurol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1534\/genetics.108.093302","article-title":"Identification of novel regulators of atonal expression in the developing Drosophila retina.","volume":"180","author":"D Melicharek","year":"2008","journal-title":"Genetics"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"2019","DOI":"10.1242\/dev.121.7.2019","article-title":"Role of the proneural gene, atonal, in formation of Drosophila chordotonal organs and photoreceptors.","volume":"121","author":"AP Jarman","year":"1995","journal-title":"Development"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2009.01.002","article-title":"Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation.","volume":"329","author":"H Yokoi","year":"2009","journal-title":"Dev Biol"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/ajmg.1320490324","article-title":"Facial palsy and cranial nerve abnormalities in CHARGE association.","volume":"49","author":"D Lacombe","year":"1994","journal-title":"Am J Med Genet"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/ajmg.1320450617","article-title":"Cranial nerve abnormalities in CHARGE association.","volume":"45","author":"KA Byerly","year":"1993","journal-title":"Am J Med Genet"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2004.07.033","article-title":"Induction of the neural crest and the opportunities of life on the edge.","volume":"275","author":"X Huang","year":"2004","journal-title":"Dev Biol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"e4381","DOI":"10.1371\/journal.pone.0004381","article-title":"Relationship between neural crest cells and cranial mesoderm during head muscle development.","volume":"4","author":"J Grenier","year":"2009","journal-title":"PLoS One"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ydbio.2009.10.008","article-title":"Semaphorin3A\/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development.","volume":"336","author":"PY Lwigale","year":"2009","journal-title":"Dev Biol"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/978-0-387-46954-6_7","article-title":"Cranial neural crest and development of the head skeleton.","volume":"589","author":"RD Knight","year":"2006","journal-title":"Adv Exp Med Biol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/1096-8628(20010301)99:2<124::AID-AJMG1114>3.0.CO;2-9","article-title":"Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.","volume":"99","author":"J Amiel","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE association: an update and review for the primary pediatrician.","volume":"37","author":"KD Blake","year":"1998","journal-title":"Clin Pediatr (Phila)"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1001\/archotol.1993.01880130051006","article-title":"Ear-nose-throat abnormalities in the CHARGE association.","volume":"119","author":"D Morgan","year":"1993","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s004319900409","article-title":"Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.","volume":"159","author":"V Abadie","year":"2000","journal-title":"Eur J Pediatr"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1097\/00129492-200305000-00014","article-title":"Congenital aplasia of the semicircular canals.","volume":"24","author":"B Satar","year":"2003","journal-title":"Otol Neurotol"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O","article-title":"CHARGE syndrome: report of 47 cases and review.","volume":"76","author":"AL Tellier","year":"1998","journal-title":"Am J Med Genet"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ajmg.a.30549","article-title":"CHARGE syndrome: developmental and behavioral data.","volume":"133A","author":"J Souriau","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1387\/ijdb.072334ts","article-title":"Expression and functions of FGF ligands during early otic development.","volume":"51","author":"T Schimmang","year":"2007","journal-title":"Int J Dev Biol"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"4201","DOI":"10.1242\/dev.01292","article-title":"The development of semicircular canals in the inner ear: role of FGFs in sensory cristae.","volume":"131","author":"W Chang","year":"2004","journal-title":"Development"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"6329","DOI":"10.1242\/dev.00881","article-title":"Requirements for FGF3 and FGF10 during inner ear formation.","volume":"130","author":"Y Alvarez","year":"2003","journal-title":"Development"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1242\/dev.02306","article-title":"The developing lamprey ear closely resembles the zebrafish otic vesicle: otx1 expression can account for all major patterning differences.","volume":"133","author":"KL Hammond","year":"2006","journal-title":"Development"},{"key":"ref61","first-page":"207","article-title":"The heart in selected congenital malformations. A lesson in pathogenetic relationships.","volume":"17","author":"IT Thomas","year":"1987","journal-title":"Ann Clin Lab Sci"},{"key":"ref62","doi-asserted-by":"crossref","first-page":"e871","DOI":"10.1542\/peds.2008-3400","article-title":"CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies\/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.","volume":"123","author":"S Jyonouchi","year":"2009","journal-title":"Pediatrics"},{"key":"ref63","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1111\/j.1399-0004.1998.tb02755.x","article-title":"Deletion in chromosome region 22q11 in a child with CHARGE association.","volume":"53","author":"K Devriendt","year":"1998","journal-title":"Clin Genet"},{"key":"ref64","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/aja.1002030302","article-title":"Stages of embryonic development of the zebrafish.","volume":"203","author":"CB Kimmel","year":"1995","journal-title":"Dev Dyn"},{"key":"ref65","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.ydbio.2004.11.031","article-title":"Comparative functional genomics revealed conservation and diversification of three enhancers of the isl1 gene for motor and sensory neuron-specific expression.","volume":"278","author":"O Uemura","year":"2005","journal-title":"Dev Biol"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1016\/j.cub.2003.08.030","article-title":"Eph\/Ephrin signaling regulates the mesenchymal-to-epithelial transition of the paraxial mesoderm during somite morphogenesis.","volume":"13","author":"A Barrios","year":"2003","journal-title":"Curr Biol"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.ydbio.2005.01.010","article-title":"Cooperative function of deltaC and her7 in anterior segment formation.","volume":"280","author":"AC Oates","year":"2005","journal-title":"Dev Biol"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.ydbio.2005.04.025","article-title":"Roles for fgf8 signaling in left-right patterning of the visceral organs and craniofacial skeleton.","volume":"283","author":"RC Albertson","year":"2005","journal-title":"Dev Biol"},{"key":"ref69","article-title":"Using Whole Mount in situ Hybridization to Link Molecular and Organismal Biology.","author":"NL Jacobs","year":"2011","journal-title":"J Vis Exp"},{"key":"ref70","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1006\/dbio.2001.0390","article-title":"Visualizing normal and defective bone development in zebrafish embryos using the fluorescent chromophore calcein.","volume":"238","author":"SJ Du","year":"2001","journal-title":"Dev Biol"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0031650","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,30]],"date-time":"2021-12-30T03:00:28Z","timestamp":1640833228000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0031650"}},"subtitle":[],"editor":[{"given":"Christoph","family":"Winkler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2012,2,20]]},"references-count":70,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,2,20]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0031650","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,20]]}}}