{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T14:09:52Z","timestamp":1710425392547},"reference-count":43,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2015,3,19]],"date-time":"2015-03-19T00:00:00Z","timestamp":1426723200000},"content-version":"vor","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.0122068","type":"journal-article","created":{"date-parts":[[2015,3,19]],"date-time":"2015-03-19T14:13:14Z","timestamp":1426774394000},"page":"e0122068","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of Genetic Loci Affecting the Severity of Symptoms of Hirschsprung Disease in Rats Carrying Ednrbsl Mutations by Quantitative Trait Locus Analysis"],"prefix":"10.1371","volume":"10","author":[{"given":"Jieping","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruihua","family":"Dang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Torigoe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuzhao","family":"Lei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianyong","family":"Lan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuya","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Agui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2015,3,19]]},"reference":[{"key":"ref1","first-page":"57","article-title":"Hirschsprung disease","volume":"5","author":"D Pellerin","year":"1992","journal-title":"Cir Pediatr"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"e15144","DOI":"10.1371\/journal.pone.0015144","article-title":"Mutations in SCG10 are not involved in Hirschsprung disease","volume":"5","author":"MMM Alves","year":"2010","journal-title":"PloS One"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"4353","DOI":"10.1093\/hmg\/ddq357","article-title":"Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease","volume":"19","author":"LC Walters","year":"2010","journal-title":"Hum Mol Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1053\/j.sempedsurg.2009.11.015","article-title":"Genetics of Hirschsprung disease and anorectal malformations","volume":"19","author":"E Mundt","year":"2010","journal-title":"Semin Pediatr Surg"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0298-171","article-title":"SOX10 mutations in patients with Waardenburg-Hirschsprung disease","volume":"18","author":"V Pingault","year":"1998","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1038\/ng0198-60","article-title":"Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model","volume":"18","author":"EM Southard-Smith","year":"1998","journal-title":"Nat. Genet."},{"key":"ref7","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/s00109-010-0714-2","article-title":"Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung\u2019s disease","volume":"89","author":"M Ruiz-Ferrer","year":"2011","journal-title":"J Mol Med Berl Ger"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"e21219","DOI":"10.1371\/journal.pone.0021219","article-title":"Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease","volume":"6","author":"Q Jiang","year":"2011","journal-title":"PloS One"},{"key":"ref9","first-page":"157","article-title":"Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome","volume":"53","author":"TH Sasongko","year":"2007","journal-title":"Kobe J Med Sci"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"3207","DOI":"10.1093\/hmg\/ddg354","article-title":"Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)","volume":"12","author":"G Fitze","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1086\/431244","article-title":"Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems","volume":"77","author":"AS Brooks","year":"2005","journal-title":"Am J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1038\/nature08494","article-title":"Finding the missing heritability of complex diseases","volume":"461","author":"TA Manolio","year":"2009","journal-title":"Nature"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/S0022-3468(82)80124-3","article-title":"Hirschsprung\u2019s disease in a kindred: a possible clue to the genetics of the disease","volume":"5","author":"IT Cohen","year":"1982","journal-title":"J Pediatr Surg"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/ng998","article-title":"Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease","volume":"32","author":"MM Carrasquillo","year":"2002","journal-title":"Nat Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1073\/pnas.0337540100","article-title":"Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb","volume":"100","author":"AS McCallion","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"2289","DOI":"10.1093\/hmg\/ddh243","article-title":"Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease","volume":"13","author":"VA Cantrell","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1038\/ng1371","article-title":"Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors","volume":"36","author":"L Zhu","year":"2004","journal-title":"Nat Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1093\/hmg\/ddg107","article-title":"Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer","volume":"12","author":"D Lang","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1016\/0092-8674(94)90017-5","article-title":"Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice","volume":"79","author":"K Hosoda","year":"1994","journal-title":"Cell"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0012-1606(03)00160-X","article-title":"The endothelin receptor-B is required for the migration of neural crest-derived melanocyte and enteric neuron precursors","volume":"259","author":"HO Lee","year":"2003","journal-title":"Dev Biol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1006\/bbrc.1996.0711","article-title":"Lack of endothelin ETB receptor binding and function in the rat with a mutant ETB receptor gene","volume":"222","author":"H Karaki","year":"1996","journal-title":"Biochem Biophys Res Commun"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"e24086","DOI":"10.1371\/journal.pone.0024086","article-title":"Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations","volume":"6","author":"R Dang","year":"2011","journal-title":"PloS One"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"e27902","DOI":"10.1371\/journal.pone.0027902","article-title":"QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations","volume":"6","author":"R Dang","year":"2011","journal-title":"PloS One"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1101\/gr.210502","article-title":"A Bioinformatics-Based Strategy Identifies c-Myc and Cdc25A as Candidates for the Apmt Mammary Tumor Latency Modifiers","volume":"12","author":"D Cozma","year":"2002","journal-title":"Genome Res"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"e52873","DOI":"10.1371\/journal.pone.0052873","article-title":"PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn\u2019s disease and affect NF-\u03baB and XBP1 binding sites","volume":"7","author":"J Glas","year":"2012","journal-title":"PloS One"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.anl.2013.05.003","article-title":"Prostaglandin E receptor subtype EP4 agonist serves better to protect cochlea than prostaglandin E1","volume":"40","author":"R Hori","year":"2013","journal-title":"Auris Nasus Larynx"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"e92127","DOI":"10.1371\/journal.pone.0092127","article-title":"A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs","volume":"9","author":"PA Winkler","year":"2014","journal-title":"PloS One"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1016\/j.jpedsurg.2008.11.055","article-title":"Transcriptional regulation of RET by Nkx2\u20131, Phox2b, Sox10, and Pax3","volume":"44","author":"TYY Leon","year":"2009","journal-title":"J Pediatr Surg"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ydbio.2010.02.036","article-title":"Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development","volume":"341","author":"L Stanchina","year":"2010","journal-title":"Dev Biol"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.ydbio.2006.03.031","article-title":"Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development","volume":"295","author":"L Stanchina","year":"2006","journal-title":"Dev Biol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s00439-013-1272-9","article-title":"RET and NRG1 interplay in Hirschsprung disease","volume":"132","author":"H Gui","year":"2013","journal-title":"Hum Gene"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0959-437X(03)00061-3","article-title":"Modifier genes and protective alleles in humans and mice","volume":"13","author":"JH Nadeau","year":"2003","journal-title":"Curr Opin Genet Dev"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.10185","article-title":"Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease","volume":"108","author":"MA Parisi","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.nbd.2010.08.006","article-title":"L1cam acts as a modifier gene during enteric nervous system development","volume":"40","author":"AS Wallace","year":"2010","journal-title":"Neurobiol Dis"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"e510","DOI":"10.1111\/j.1365-2982.2011.01692.x","article-title":"L1cam acts as a modifier gene for members of the endothelin signalling pathway during enteric nervous system development","volume":"23","author":"AS Wallace","year":"2011","journal-title":"Neurogastroenterol Motil Off J Eur Gastrointest Motil Soc"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/382070a0","article-title":"Renal agenesis and the absence of enteric neurons in mice lacking GDNF","volume":"382","author":"MP S\u00e1nchez","year":"1996","journal-title":"Nature"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/382076a0","article-title":"Renal and neuronal abnormalities in mice lacking GDNF","volume":"382","author":"MW Moore","year":"1996","journal-title":"Nature"},{"issue":"95","key":"ref38","first-page":"104","article-title":"Novel structure of the human GDNF gene","volume":"803","author":"D Woodbury","year":"1998","journal-title":"Brain Res"},{"key":"ref39","first-page":"63","article-title":"Novel alter native promoters of mouse glial cell line-derived neurotrophic factor gene","volume":"1494","author":"M Tanaka","year":"2000","journal-title":"Biochem Biophys Acta"},{"key":"ref40","first-page":"254","article-title":"Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family","volume":"92","author":"B Xu","year":"2012","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1002\/ajmg.a.32964","article-title":"Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2","volume":"149A","author":"T Konno","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1111\/j.1365-2133.2005.06912.x","article-title":"A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene","volume":"153","author":"AYK Chan","year":"2005","journal-title":"Br J Dermatol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1074\/jbc.M110229200","article-title":"Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF","volume":"277","author":"J Du","year":"2002","journal-title":"J Biol Chem"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0122068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T19:52:51Z","timestamp":1588967571000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0122068"}},"subtitle":[],"editor":[{"given":"Tsuyoshi","family":"Koide","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2015,3,19]]},"references-count":43,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015,3,19]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0122068","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,19]]}}}