{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:30:08Z","timestamp":1769603408668,"version":"3.49.0"},"reference-count":57,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T00:00:00Z","timestamp":1567123200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["19255"],"award-info":[{"award-number":["19255"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["20757"],"award-info":[{"award-number":["20757"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2011-02348722"],"award-info":[{"award-number":["GR-2011-02348722"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009058","name":"Fondazione Italiana per la Lotta al Neuroblastoma","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/100009058","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Associazione Oncologia Pediatrica e Neuroblastoma","award":["NA"],"award-info":[{"award-number":["NA"]}]},{"DOI":"10.13039\/501100004710","name":"Fondazione Umberto Veronesi","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100004710","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH HHS\/United States","award":["R01 CA124709\/CA\/NCI, R01 CA180692 and R35 CA220500"],"award-info":[{"award-number":["R01 CA124709\/CA\/NCI, R01 CA180692 and R35 CA220500"]}]},{"name":"British Heart Foundation Personal Chair","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In the past years, genome wide association studies (GWAS) have provided evidence that inter-individual susceptibility to diverse pathological conditions can reveal a common genetic architecture. Through the analysis of congenital heart disease (CHD) and neuroblastoma (NB) GWAS data, we aimed to dissect the genetic susceptibility shared between these conditions, which are known to arise from neural crest cell (NCC) migration or development abnormalities, via identification and functional characterization of common regions of association. Two loci (2q35 and 3q25.32) harbor single nucleotide polymorphisms (SNPs) that are associated at a p-value &lt; 10\u22123 with conotruncal malformations and ventricular septal defect respectively, as well as with NB. In addition, the lead SNP in 4p16.2 for atrial septal defect and the lead SNP in 3q25.32 for tetralogy of Fallot are less than 250 Kb distant from the lead SNPs for NB at the same genomic regions. Some of these shared susceptibility loci regulate the expression of relevant genes involved in NCC formation and developmental processes (such as BARD1, MSX1, and SHOX2) and are enriched in several epigenetic markers from NB and fetal heart cell lines. Although the clinical correlation between NB and CHD is unclear, our exploration of a possible common genetic basis between NB and a subset of cardiac malformations can help shed light on their shared embryological origin and pathogenetic mechanisms.<\/jats:p>","DOI":"10.3390\/genes10090663","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T10:31:17Z","timestamp":1567161077000},"page":"663","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease"],"prefix":"10.3390","volume":"10","author":[{"given":"Alessandro","family":"Testori","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9552-7192","authenticated-orcid":false,"given":"Vito A.","family":"Lasorsa","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora","family":"Cimmino","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sueva","family":"Cantalupo","sequence":"additional","affiliation":[{"name":"IRCCS SDN, Istituto di Ricerca Diagnostica e Nucleare, 80143 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Cardinale","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5352-6503","authenticated-orcid":false,"given":"Marianna","family":"Avitabile","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d - AO dei Colli, Presidio Monaldi, 80121 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Giovanna","family":"Russo","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d - AO dei Colli, Presidio Monaldi, 80121 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon","family":"Diskin","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Maris","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Devoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Division of Genetics, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Translational and Precision Medicine, University of Rome \u201cLa Sapienza\u201d, 00185 Rome, Italy"},{"name":"Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Keavney","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK"},{"name":"Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M20 4BX, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather J.","family":"Cordell","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9558-0356","authenticated-orcid":false,"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-1259","authenticated-orcid":false,"given":"Mario","family":"Capasso","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"},{"name":"IRCCS SDN, Istituto di Ricerca Diagnostica e Nucleare, 80143 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,8,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2202","DOI":"10.1056\/NEJMra0804577","article-title":"Recent advances in neuroblastoma","volume":"362","author":"Maris","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/978-1-4419-6033-7_4","article-title":"Genetics and genomics of neuroblastoma","volume":"155","author":"Capasso","year":"2010","journal-title":"Cancer Treat. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.gde.2017.03.008","article-title":"Genetic susceptibility to neuroblastoma","volume":"42","author":"Tolbert","year":"2017","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1093\/carcin\/bgs380","article-title":"Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility","volume":"34","author":"Capasso","year":"2013","journal-title":"Carcinogenesis"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"6913","DOI":"10.1158\/0008-5472.CAN-14-0431","article-title":"Common genetic variants in NEFL influence gene expression and neuroblastoma risk","volume":"74","author":"Capasso","year":"2014","journal-title":"Cancer Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"3224","DOI":"10.1111\/jcmm.13226","article-title":"The functional variant rs34330 of CDKN1B is associated with risk of neuroblastoma","volume":"21","author":"Capasso","year":"2017","journal-title":"J. Cell Mol. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1002\/ijc.31822","article-title":"Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor","volume":"143","author":"Cimmino","year":"2018","journal-title":"Int. J. Cancer"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/S0140-6736(09)61922-X","article-title":"20-year survival of children born with congenital anomalies: a population-based study","volume":"375","author":"Tennant","year":"2010","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/ng.2637","article-title":"Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16","volume":"45","author":"Cordell","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1161\/CIRCGENETICS.115.001324","article-title":"Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease","volume":"9","author":"LaHaye","year":"2016","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","article-title":"Genetics and Genomics of Congenital Heart Disease","volume":"120","author":"Zaidi","year":"2017","journal-title":"Circ. Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/BF02387900","article-title":"The association of congenital neuroblastoma and congenital heart disease. Is there a common embryologic basis?","volume":"19","author":"Bellah","year":"1989","journal-title":"Pediatr. Radiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1007\/s002469900364","article-title":"Coarctation of the aorta associated with neuroblastoma","volume":"19","author":"Friedman","year":"1998","journal-title":"Pediatr. Cardiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1016\/S0003-4975(97)01067-9","article-title":"Intraoperative discovery of neuroblastoma in an infant with pulmonary atresia","volume":"64","author":"McElhinney","year":"1997","journal-title":"Ann. Thorac. Surg."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1542\/peds.97.2.258","article-title":"Neuroblastoma and congenital cardiovascular malformations","volume":"97","author":"Rosti","year":"1996","journal-title":"Pediatrics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s00247-002-0858-5","article-title":"Neuroblastoma with atypical metastases to cardiac and skeletal muscles: MRI features","volume":"33","author":"Faingold","year":"2003","journal-title":"Pediatr. Radiol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/j.jpeds.2003.12.032","article-title":"Association between congenital cardiovascular malformations and neuroblastoma","volume":"144","author":"George","year":"2004","journal-title":"J. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1007\/s00431-008-0891-y","article-title":"Prevalence of congenital heart defects in neuroblastoma patients: A cohort study and systematic review of literature","volume":"168","author":"Merks","year":"2009","journal-title":"Eur. J. Pediatr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ajmg.c.30300","article-title":"Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes","volume":"157C","author":"Kratz","year":"2011","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.diff.2012.04.005","article-title":"The neural crest in cardiac congenital anomalies","volume":"84","author":"Keyte","year":"2012","journal-title":"Differentiation"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1038\/gim.2018.34","article-title":"Congenital heart disease and aortic arch variants associated with mutation in PHOX2B","volume":"20","author":"Lombardo","year":"2018","journal-title":"Genet. Med."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1086\/424530","article-title":"Germline PHOX2B mutation in hereditary neuroblastoma","volume":"75","author":"Mosse","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/B978-0-12-380916-2.00004-8","article-title":"The connections between neural crest development and neuroblastoma","volume":"94","author":"Jiang","year":"2011","journal-title":"Curr. Top. Dev. Biol."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"McDaniel, L.D., Conkrite, K.L., Chang, X., Capasso, M., Vaksman, Z., Oldridge, D.A., Zachariou, A., Horn, M., Diamond, M., and Hou, C. (2017). Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. PLoS Genet., 13.","DOI":"10.1371\/journal.pgen.1006787"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.ajhg.2013.09.002","article-title":"Haplotype estimation using sequencing reads","volume":"93","author":"Delaneau","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng.2354","article-title":"Fast and accurate genotype imputation in genome-wide association studies through pre-phasing","volume":"44","author":"Howie","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/ng2088","article-title":"A new multipoint method for genome-wide association studies by imputation of genotypes","volume":"39","author":"Marchini","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: Rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1136\/annrheumdis-2012-202081","article-title":"Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data","volume":"72","author":"Elliott","year":"2013","journal-title":"Ann. Rheum. Dis."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Duggal, P., Gillanders, E.M., Holmes, T.N., and Bailey-Wilson, J.E. (2008). Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies. BMC Genom., 9.","DOI":"10.1186\/1471-2164-9-516"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/ng.3570","article-title":"Detection and interpretation of shared genetic influences on 42 human traits","volume":"48","author":"Pickrell","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/s13040-017-0129-5","article-title":"Variant Set Enrichment: An R package to identify disease-associated functional genomic regions","volume":"10","author":"Ahmed","year":"2017","journal-title":"BioData Min."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"D930","DOI":"10.1093\/nar\/gkr917","article-title":"HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants","volume":"40","author":"Ward","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_36","unstructured":"(2019, April 26). LinDA. Available online: http:\/\/linda.irgb.cnr.it\/index.html."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e10","DOI":"10.1212\/NXG.0000000000000010","article-title":"Genetic analysis for a shared biological basis between migraine and coronary artery disease","volume":"1","author":"Winsvold","year":"2015","journal-title":"Neurol. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"5103","DOI":"10.1158\/0008-5472.CAN-15-2980","article-title":"Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations","volume":"76","author":"Fehringer","year":"2016","journal-title":"Cancer Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/nrg3461","article-title":"Pleiotropy in complex traits: Challenges and strategies","volume":"14","author":"Solovieff","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1158\/2159-8290.CD-15-1227","article-title":"Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types","volume":"6","author":"Kar","year":"2016","journal-title":"Cancer Discov."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"3850","DOI":"10.1093\/hmg\/ddx285","article-title":"Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density dentifies SMAD3 as a novel osteoarthritis risk locus","volume":"26","author":"Hackinger","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1056\/NEJMoa1502214","article-title":"FTO Obesity Variant Circuitry and Adipocyte Browning in Humans","volume":"373","author":"Claussnitzer","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nm.3933","article-title":"Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases","volume":"21","author":"Li","year":"2015","journal-title":"Nat. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"108355","DOI":"10.18632\/oncotarget.19383","article-title":"The shared and specific mechanism of four autoimmune diseases","volume":"8","author":"Luan","year":"2017","journal-title":"Oncotarget"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Lupo, P.J., Schraw, J.M., Desrosiers, T.A., Nembhard, W.N., Langlois, P.H., Canfield, M.A., Copeland, G., Meyer, R.E., Brown, A.L., and Chambers, T.M. (2019). Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births. JAMA Oncol., in press.","DOI":"10.1001\/jamaoncol.2019.1215"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"6441","DOI":"10.1242\/dev.00878","article-title":"Regulation of Msx genes by a Bmp gradient is essential for neural crest specification","volume":"130","author":"Tribulo","year":"2003","journal-title":"Development"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.ydbio.2007.05.037","article-title":"Msx1 and Msx2 regulate survival of secondary heart field precursors and post-migratory proliferation of cardiac neural crest in the outflow tract","volume":"308","author":"Chen","year":"2007","journal-title":"Dev. Biol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1016\/j.yexcr.2007.12.008","article-title":"The MSX1 homeobox transcription factor is a downstream target of PHOX2B and activates the Delta-Notch pathway in neuroblastoma","volume":"314","author":"Revet","year":"2008","journal-title":"Exp. Cell Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e224","DOI":"10.1097\/MPH.0000000000000768","article-title":"Neuroblastoma in a Child with Wolf-Hirschhorn Syndrome","volume":"39","author":"Ozcan","year":"2017","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.scr.2017.03.018","article-title":"Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells","volume":"21","author":"Hoffmann","year":"2017","journal-title":"Stem Cell Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/s00395-016-0557-2","article-title":"Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation","volume":"111","author":"Hoffmann","year":"2016","journal-title":"Basic Res. Cardiol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1073\/pnas.95.5.2406","article-title":"SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development","volume":"95","author":"Blaschke","year":"1998","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ydbio.2010.11.031","article-title":"Shox2 function couples neural, muscular and skeletal development in the proximal forelimb","volume":"350","author":"Vickerman","year":"2011","journal-title":"Dev. Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00441-013-1743-2","article-title":"Replacing Shox2 with human SHOX leads to congenital disc degeneration of the temporomandibular joint in mice","volume":"355","author":"Li","year":"2014","journal-title":"Cell Tissue Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.bbamcr.2017.01.004","article-title":"Myeloid leukemia factor-1 is a novel modulator of neonatal rat cardiomyocyte proliferation","volume":"1864","author":"Rangrez","year":"2017","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1038\/ng.374","article-title":"Common variations in BARD1 influence susceptibility to high-risk neuroblastoma","volume":"41","author":"Capasso","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Cimmino, F., Formicola, D., and Capasso, M. (2017). Dualistic Role of BARD1 in Cancer. Genes, 8.","DOI":"10.3390\/genes8120375"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/9\/663\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:15:17Z","timestamp":1760188517000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/9\/663"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,30]]},"references-count":57,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2019,9]]}},"alternative-id":["genes10090663"],"URL":"https:\/\/doi.org\/10.3390\/genes10090663","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,30]]}}}