{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T11:16:14Z","timestamp":1784718974386,"version":"3.55.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T00:00:00Z","timestamp":1455753600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurobiol"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s12035-016-9752-2","type":"journal-article","created":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T07:13:52Z","timestamp":1455779632000},"page":"1777-1785","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Exome-Wide Association Study Identified New Risk Loci for Hirschsprung\u2019s Disease"],"prefix":"10.1007","volume":"54","author":[{"given":"Weibing","family":"Tang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junwei","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangfu","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hairong","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbing","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinru","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhibing","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yankai","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,2,18]]},"reference":[{"issue":"1","key":"9752_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2007.053959","volume":"45","author":"J Amiel","year":"2008","unstructured":"Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S et al (2008) Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 45(1):1\u201314. doi:\n10.1136\/jmg.2007.053959","journal-title":"J Med Genet"},{"issue":"5","key":"9752_CR2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002687","volume":"8","author":"CS Tang","year":"2012","unstructured":"Tang CS, Cheng G, So MT, Yip BH, Miao XP, Wong EH, Ngan ES, Lui VC et al (2012) Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. PLoS Genet 8(5), e1002687. doi:\n10.1371\/journal.pgen.1002687","journal-title":"PLoS Genet"},{"issue":"8","key":"9752_CR3","doi-asserted-by":"publisher","first-page":"2694","DOI":"10.1073\/pnas.0809630105","volume":"106","author":"MM Garcia-Barcelo","year":"2009","unstructured":"Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP et al (2009) Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung\u2019s disease. Proc Natl Acad Sci U S A 106(8):2694\u20132699. doi:\n10.1073\/pnas.0809630105","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9752_CR4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu488","author":"Y Li","year":"2014","unstructured":"Li Y, Kido T, Garcia-Barcelo MM, Tam PK, Tabatabai ZL, Lau YF (2014) SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. Hum Mol Genet. doi:\n10.1093\/hmg\/ddu488","journal-title":"Hum Mol Genet"},{"issue":"5","key":"9752_CR5","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1007\/s00439-013-1272-9","volume":"132","author":"H Gui","year":"2013","unstructured":"Gui H, Tang WK, So MT, Proitsi P, Sham PC, Tam PK, Ngan ES, Cherny SS et al (2013) RET and NRG1 interplay in Hirschsprung disease. Hum Genet 132(5):591\u2013600. doi:\n10.1007\/s00439-013-1272-9","journal-title":"Hum Genet"},{"issue":"1","key":"9752_CR6","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/humu.22170","volume":"34","author":"BD Hyndman","year":"2013","unstructured":"Hyndman BD, Gujral TS, Krieger JR, Cockburn JG, Mulligan LM (2013) Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease. Hum Mutat 34(1):132\u2013142. doi:\n10.1002\/humu.22170","journal-title":"Hum Mutat"},{"issue":"18","key":"9752_CR7","doi-asserted-by":"publisher","first-page":"3195","DOI":"10.1242\/dev.031302","volume":"136","author":"NR Druckenbrod","year":"2009","unstructured":"Druckenbrod NR, Epstein ML (2009) Age-dependent changes in the gut environment restrict the invasion of the hindgut by enteric neural progenitors. Development 136(18):3195\u20133203. doi:\n10.1242\/dev.031302","journal-title":"Development"},{"key":"9752_CR8","doi-asserted-by":"publisher","first-page":"5893","DOI":"10.1038\/ncomms6893","volume":"5","author":"SM Dhanasekaran","year":"2014","unstructured":"Dhanasekaran SM, Alejandro Balbin O, Chen G, Nadal E, Kalyana-Sundaram S, Pan J, Veeneman B, Cao X et al (2014) Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes. Nat Commun 5:5893. doi:\n10.1038\/ncomms6893","journal-title":"Nat Commun"},{"issue":"216","key":"9752_CR9","doi-asserted-by":"publisher","first-page":"216ra177","DOI":"10.1126\/scitranslmed.3007205","volume":"5","author":"H Yasuda","year":"2013","unstructured":"Yasuda H, Park E, Yun CH, Sng NJ, Lucena-Araujo AR, Yeo WL, Huberman MS, Cohen DW et al (2013) Structural, biochemical, and clinical characterization of epidermal growth factor receptor (EGFR) exon 20 insertion mutations in lung cancer. Sci Transl Med 5(216):216ra177. doi:\n10.1126\/scitranslmed.3007205","journal-title":"Sci Transl Med"},{"issue":"1","key":"9752_CR10","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1073\/pnas.97.1.268","volume":"97","author":"S Bolk","year":"2000","unstructured":"Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S et al (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A 97(1):268\u2013273","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"9752_CR11","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1038\/ng868","volume":"31","author":"SB Gabriel","year":"2002","unstructured":"Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM et al (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31(1):89\u201393. doi:\n10.1038\/ng868","journal-title":"Nat Genet"},{"issue":"2","key":"9752_CR12","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1053\/j.gastro.2010.10.044","volume":"140","author":"Y Sribudiani","year":"2011","unstructured":"Sribudiani Y, Metzger M, Osinga J, Rey A, Burns AJ, Thapar N, Hofstra RM (2011) Variants in RET associated with Hirschsprung\u2019s disease affect binding of transcription factors and gene expression. Gastroenterology 140(2):572\u2013582 e2. doi:\n10.1053\/j.gastro.2010.10.044","journal-title":"Gastroenterology"},{"issue":"Pt 2","key":"9752_CR13","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1111\/j.1469-1809.2007.00403.x","volume":"72","author":"MM Garcia-Barcelo","year":"2008","unstructured":"Garcia-Barcelo MM, Lau DK, Ngan ES, Leon TY, Liu T, So M, Miao X, Lui VC et al (2008) Evaluation of the NK2 homeobox 1 gene (NKX2-1) as a Hirschsprung\u2019s disease locus. Ann Hum Genet 72(Pt 2):170\u2013177. doi:\n10.1111\/j.1469-1809.2007.00403.x","journal-title":"Ann Hum Genet"},{"key":"9752_CR14","doi-asserted-by":"publisher","unstructured":"Liu J, Wang L, Fu Y, Li Z, Zhang Y, Zhang L, Jin L, Ye R, Ren A (2014) Association between maternal COMT gene polymorphisms and fetal neural tube defects risk in a Chinese population. Birth Defects Res A Clin Mol Teratol 100(1):22\u201329. doi:\n10.1002\/bdra.23208","DOI":"10.1002\/bdra.23208"},{"issue":"5","key":"9752_CR15","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1111\/ahg.12076","volume":"78","author":"H Gui","year":"2014","unstructured":"Gui H, Bao JY, Tang CS, So MT, Ngo DN, Tran AQ, Bui DH, Pham DH et al (2014) Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling. Ann Hum Genet 78(5):381\u2013387. doi:\n10.1111\/ahg.12076","journal-title":"Ann Hum Genet"},{"issue":"11","key":"9752_CR16","doi-asserted-by":"publisher","first-page":"4875","DOI":"10.1172\/JCI69781","volume":"123","author":"JI Lake","year":"2013","unstructured":"Lake JI, Tusheva OA, Graham BL, Heuckeroth RO (2013) Hirschsprung-like disease is exacerbated by reduced de novo GMP synthesis. J Clin Invest 123(11):4875\u20134887. doi:\n10.1172\/JCI69781","journal-title":"J Clin Invest"},{"issue":"8","key":"9752_CR17","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/jhg.2012.54","volume":"57","author":"TC Carter","year":"2012","unstructured":"Carter TC, Kay DM, Browne ML, Liu A, Romitti PA, Kuehn D, Conley MR, Caggana M et al (2012) Hirschsprung\u2019s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation. J Hum Genet 57(8):485\u2013493. doi:\n10.1038\/jhg.2012.54","journal-title":"J Hum Genet"},{"issue":"7","key":"9752_CR18","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1038\/ejhg.2008.18","volume":"16","author":"MM Garcia-Barcelo","year":"2008","unstructured":"Garcia-Barcelo MM, Fong PY, Tang CS, Miao XP, So MT, Yuan ZW, Li L, Guo WH et al (2008) Mapping of a Hirschsprung\u2019s disease locus in 3p21. Eur J Hum Genet 16(7):833\u2013840. doi:\n10.1038\/ejhg.2008.18","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"9752_CR19","doi-asserted-by":"publisher","first-page":"e35","DOI":"10.1136\/jmg.2005.038125","volume":"43","author":"AS Brooks","year":"2006","unstructured":"Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA et al (2006) A novel susceptibility locus for Hirschsprung\u2019s disease maps to 4q31.3-q32.3. J Med Genet 43(7):e35. doi:\n10.1136\/jmg.2005.038125","journal-title":"J Med Genet"},{"issue":"1","key":"9752_CR20","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1016\/j.ajhg.2010.06.007","volume":"87","author":"ES Emison","year":"2010","unstructured":"Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L et al (2010) Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet 87(1):60\u201374. doi:\n10.1016\/j.ajhg.2010.06.007","journal-title":"Am J Hum Genet"},{"issue":"3","key":"9752_CR21","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/j.yexmp.2014.11.004","volume":"97","author":"H Zhu","year":"2014","unstructured":"Zhu H, Cai P, Zhu D, Xu C, Li H, Tang J, Xie H, Qin Y et al (2014) A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese. Exp Mol Pathol 97(3):511\u2013514. doi:\n10.1016\/j.yexmp.2014.11.004","journal-title":"Exp Mol Pathol"},{"issue":"2","key":"9752_CR22","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1159\/000363021","volume":"34","author":"H Li","year":"2014","unstructured":"Li H, Tang J, Lei H, Cai P, Zhu H, Li B, Xu X, Xia Y et al (2014) Decreased miR-200a\/141 suppress cell migration and proliferation by targeting PTEN in Hirschsprung\u2019s disease. Cell Physiol Biochem 34(2):543\u2013553. doi:\n10.1159\/000363021","journal-title":"Cell Physiol Biochem"},{"issue":"9","key":"9752_CR23","doi-asserted-by":"publisher","first-page":"3467","DOI":"10.1172\/JCI43737","volume":"121","author":"ES Ngan","year":"2011","unstructured":"Ngan ES, Garcia-Barcelo MM, Yip BH, Poon HC, Lau ST, Kwok CK, Sat E, Sham MH et al (2011) Hedgehog\/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans. J Clin Invest 121(9):3467\u20133478. doi:\n10.1172\/JCI43737","journal-title":"J Clin Invest"},{"issue":"5","key":"9752_CR24","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1002\/(SICI)1096-8628(19960920)67:5<468::AID-AJMG5>3.0.CO;2-G","volume":"67","author":"HM Lachman","year":"1996","unstructured":"Lachman HM, Morrow B, Shprintzen R, Veit S, Parsia SS, Faedda G, Goldberg R, Kucherlapati R et al (1996) Association of codon 108\/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet 67(5):468\u2013472. doi:\n10.1002\/(SICI)1096-8628(19960920)67:5<468::AID-AJMG5>3.0.CO;2-G","journal-title":"Am J Med Genet"},{"issue":"20","key":"9752_CR25","doi-asserted-by":"publisher","first-page":"3914","DOI":"10.1093\/hmg\/ddp334","volume":"18","author":"G Suzuki","year":"2009","unstructured":"Suzuki G, Harper KM, Hiramoto T, Funke B, Lee M, Kang G, Buell M, Geyer MA et al (2009) Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Hum Mol Genet 18(20):3914\u20133925. doi:\n10.1093\/hmg\/ddp334","journal-title":"Hum Mol Genet"},{"issue":"Pt 23","key":"9752_CR26","doi-asserted-by":"publisher","first-page":"4128","DOI":"10.1242\/jcs.072041","volume":"123","author":"K Cho","year":"2010","unstructured":"Cho K, Vaught TG, Ji H, Gu D, Papasakelariou-Yared C, Horstmann N, Jennings JM, Lee M et al (2010) Xenopus Kazrin interacts with ARVCF-catenin, spectrin and p190B RhoGAP, and modulates RhoA activity and epithelial integrity. J Cell Sci 123(Pt 23):4128\u20134144. doi:\n10.1242\/jcs.072041","journal-title":"J Cell Sci"},{"issue":"1","key":"9752_CR27","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1159\/000080710","volume":"26","author":"N Ulfig","year":"2004","unstructured":"Ulfig N, Chan WY (2004) Expression of ARVCF in the human ganglionic eminence during fetal development. Dev Neurosci 26(1):38\u201344. doi:\n10.1159\/000080710","journal-title":"Dev Neurosci"},{"issue":"12","key":"9752_CR28","doi-asserted-by":"publisher","first-page":"2680","DOI":"10.1002\/dvdy.22765","volume":"240","author":"HT Tran","year":"2011","unstructured":"Tran HT, Delvaeye M, Verschuere V, Descamps E, Crabbe E, Van Hoorebeke L, McCrea P, Adriaens D et al (2011) ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus. Dev Dyn 240(12):2680\u20132687. doi:\n10.1002\/dvdy.22765","journal-title":"Dev Dyn"},{"issue":"6","key":"9752_CR29","doi-asserted-by":"publisher","first-page":"e1655","DOI":"10.1542\/peds.2013-3011","volume":"133","author":"JP Boardman","year":"2014","unstructured":"Boardman JP, Walley A, Ball G, Takousis P, Krishnan ML, Hughes-Carre L, Aljabar P, Serag A et al (2014) Common genetic variants and risk of brain injury after preterm birth. Pediatrics 133(6):e1655\u20131663. doi:\n10.1542\/peds.2013-3011","journal-title":"Pediatrics"},{"issue":"3","key":"9752_CR30","doi-asserted-by":"publisher","first-page":"320","DOI":"10.4088\/JCP.10m06491","volume":"73","author":"K Sim","year":"2012","unstructured":"Sim K, Chan WY, Woon PS, Low HQ, Lim L, Yang GL, Lee J, Chong SA et al (2012) ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia. J Clin Psychiatry 73(3):320\u2013326. doi:\n10.4088\/JCP.10m06491","journal-title":"J Clin Psychiatry"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12035-016-9752-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-016-9752-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-016-9752-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-016-9752-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T02:48:12Z","timestamp":1559443692000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12035-016-9752-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,18]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["9752"],"URL":"https:\/\/doi.org\/10.1007\/s12035-016-9752-2","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"value":"0893-7648","type":"print"},{"value":"1559-1182","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,18]]}}}