{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:22:53Z","timestamp":1789172573427,"version":"build-2803163510"},"reference-count":33,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81270439"],"award-info":[{"award-number":["81270439"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"crossref","award":["Z109021204"],"award-info":[{"award-number":["Z109021204"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012226","name":"Fundamental Research Funds for the Central Universities","doi-asserted-by":"crossref","award":["Z111021202"],"award-info":[{"award-number":["Z111021202"]}],"id":[{"id":"10.13039\/501100012226","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Research Foundation for Advanced Talents"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2016,1]]},"DOI":"10.1016\/j.gene.2015.08.051","type":"journal-article","created":{"date-parts":[[2015,8,28]],"date-time":"2015-08-28T19:02:23Z","timestamp":1440788543000},"page":"144-148","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrb mutations"],"prefix":"10.1016","volume":"575","author":[{"given":"Jieping","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruihua","family":"Dang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Torigoe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anqi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuzhao","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuya","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinxi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Agui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2015.08.051_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: a review","volume":"45","author":"Amiel","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0010","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/ng1196-341","article-title":"Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient","volume":"14","author":"Angrist","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0015","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1093\/hmg\/4.8.1381","article-title":"Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease","volume":"4","author":"Atti\u00e9","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0020","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S0169-328X(99)00106-0","article-title":"Characterization of a promoter for the human glial cell line-derived neurotrophic factor gene","volume":"69","author":"Baecker","year":"1999","journal-title":"Mol. Brain Res."},{"key":"10.1016\/j.gene.2015.08.051_bb0025","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1097\/00001574-200201000-00013","article-title":"The pathogenesis of Hirschsprung disease","volume":"18","author":"Belknap","year":"2002","journal-title":"Curr. Opin. Gastroenterol."},{"key":"10.1016\/j.gene.2015.08.051_bb0030","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0896-6273(00)80514-0","article-title":"GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney","volume":"21","author":"Cacalano","year":"1998","journal-title":"Neuron"},{"key":"10.1016\/j.gene.2015.08.051_bb0035","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1006\/dbio.1998.9090","article-title":"Age-dependent differences in the effects of GDNF and NT-3 on the development of neurons and glia from neural crest-derived precursors immunoselected from the fetal rat gut: expression of GFR\u03b1-1in vitroandin vivo","volume":"204","author":"Chalazonitis","year":"1998","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2015.08.051_bb0040","first-page":"27505","article-title":"Binding of GDNF and neurturin to human GDNF family receptor \u03b1 1 and 2 influence of cRET and cooperative interactions.","volume":"275","author":"Cik","year":"2000","journal-title":"J. Biophys. Chem."},{"key":"10.1016\/j.gene.2015.08.051_bb0045","doi-asserted-by":"crossref","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":"Dang","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2015.08.051_bb0050","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/367378a0","article-title":"Mutations of the RET proto-oncogene in Hirschsprung's disease","volume":"367","author":"Edery","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.gene.2015.08.051_bb0055","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1093\/hmg\/11.3.325","article-title":"Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease","volume":"11","author":"Eketj\u00e4ll","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0060","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":"Fitze","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0065","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1093\/hmg\/ddi015","article-title":"TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease","volume":"14","author":"Garcia-Barcelo","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0070","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1373\/clinchem.2003.022061","article-title":"Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease","volume":"50","author":"Garcia-Barcel\u00f3","year":"2004","journal-title":"Clin. Chem."},{"key":"10.1016\/j.gene.2015.08.051_bb0075","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1242\/dev.00433","article-title":"GDNF availability determines enteric neuron number by controlling precursor proliferation","volume":"130","author":"Gianino","year":"2003","journal-title":"Development"},{"key":"10.1016\/j.gene.2015.08.051_bb0080","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1093\/hmg\/7.12.1873","article-title":"Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3\u2032-UTR and alternative splice products","volume":"7","author":"Grimm","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0085","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/humu.20135","article-title":"A common haplotype at the 5\u2032 end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression","volume":"25","author":"Griseri","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.08.051_bb0090","article-title":"Identification of genetic loci affecting the severity of symptoms of Hirschsprung disease in rats carrying Ednrbsl mutations by quantitative trait locus analysis","volume":"10","author":"Huang","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2015.08.051_bb0095","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0022-3468(98)90371-2","article-title":"GDNF deficit in Hirschsprung's disease","volume":"33","author":"Martucciello","year":"1998","journal-title":"J. Pediatr. Surg."},{"key":"10.1016\/j.gene.2015.08.051_bb0100","first-page":"37","article-title":"The dependence receptor hypothesis. Apoptosis Int. J. Program","volume":"9","author":"Mehlen","year":"2004","journal-title":"Cell Death"},{"key":"10.1016\/j.gene.2015.08.051_bb0105","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1093\/hmg\/ddq020","article-title":"Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease","volume":"19","author":"Miao","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0110","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/382076a0","article-title":"Renal and neuronal abnormalities in mice lacking GDNF","volume":"382","author":"Moore","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.gene.2015.08.051_bb0115","doi-asserted-by":"crossref","first-page":"5151","DOI":"10.1242\/dev.129.22.5151","article-title":"Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis","volume":"129","author":"Natarajan","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.gene.2015.08.051_bb0120","first-page":"1628","article-title":"Advances in molecular genetics of Hirschsprung's disease. Anat. Rec","volume":"295","author":"Pan","year":"2012","journal-title":"Hoboken NJ"},{"key":"10.1016\/j.gene.2015.08.051_bb0125","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1097\/00008480-200012000-00017","article-title":"Genetics of Hirschsprung disease","volume":"12","author":"Parisi","year":"2000","journal-title":"Curr. Opin. Pediatr."},{"key":"10.1016\/j.gene.2015.08.051_bb0130","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/382073a0","article-title":"Defects in enteric innervation and kidney development in mice lacking GDNF","volume":"382","author":"Pichel","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.gene.2015.08.051_bb0135","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/ng1196-345","article-title":"Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease","volume":"14","author":"Salomon","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0140","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/367380a0","article-title":"Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret","volume":"367","author":"Schuchardt","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.gene.2015.08.051_bb0145","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8","article-title":"Frequency of RET mutations in long- and short-segment Hirschsprung disease","volume":"9","author":"Seri","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2015.08.051_bb0150","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1399-0004.1998.tb03691.x","article-title":"Low frequency of RET mutations in Hirschsprung disease in Sweden","volume":"54","author":"Svensson","year":"1998","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2015.08.051_bb0155","first-page":"11378","article-title":"Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization","volume":"273","author":"Tanaka","year":"1998","journal-title":"J. Biophys. Chem."},{"key":"10.1016\/j.gene.2015.08.051_bb0160","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0167-4781(00)00218-9","article-title":"Novel alternative promoters of mouse glial cell line-derived neurotrophic factor gene","volume":"1494","author":"Tanaka","year":"2000","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.gene.2015.08.051_bb0165","doi-asserted-by":"crossref","first-page":"4937","DOI":"10.3748\/wjg.v17.i45.4937","article-title":"Genetic interactions and modifier genes in Hirschsprung's disease","volume":"17","author":"Wallace","year":"2011","journal-title":"World J. Gastroenterol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915010215?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915010215?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:17:59Z","timestamp":1759853879000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111915010215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["S0378111915010215"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2015.08.051","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrbsl mutations","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2015.08.051","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}