{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T21:30:30Z","timestamp":1788471030778,"version":"build-2803163510"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2007,6,13]],"date-time":"2007-06-13T00:00:00Z","timestamp":1181692800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2007,9]]},"DOI":"10.1038\/sj.ejhg.5201872","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T05:37:23Z","timestamp":1181799443000},"page":"950-958","source":"Crossref","is-referenced-by-count":52,"title":["Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFR\u03b1 reveals rare variants in diaphragmatic hernia patients"],"prefix":"10.1038","volume":"15","author":[{"given":"S B","family":"Bleyl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Moshrefi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G M","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Saijoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G C","family":"Schoenwolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L A","family":"Pennacchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A M","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,6,13]]},"reference":[{"key":"BF5201872_CR1","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1002\/tera.1420460605","volume":"46","author":"CP Torfs","year":"1992","unstructured":"Torfs CP, Curry CJ, Bateson TF et al: A population-based study of congenital diaphragmatic hernia. Teratology 1992; 46: 555\u2013565.","journal-title":"Teratology"},{"key":"BF5201872_CR2","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1053\/j.semperi.2005.04.010","volume":"29","author":"DL Cass","year":"2005","unstructured":"Cass DL : Fetal surgery for congenital diaphragmatic hernia: the North American experience. Semin Perinatol 2005; 29: 104\u2013111.","journal-title":"Semin Perinatol"},{"key":"BF5201872_CR3","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1053\/j.semperi.2005.04.003","volume":"29","author":"AM Slavotinek","year":"2005","unstructured":"Slavotinek AM : The genetics of congenital diaphragmatic hernia. Semin Perinatol 2005; 29: 77\u201385.","journal-title":"Semin Perinatol"},{"key":"BF5201872_CR4","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.a.30904","volume":"138","author":"BR Pober","year":"2005","unstructured":"Pober BR, Lin A, Russell M et al: Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet A 2005; 138: 81\u201388.","journal-title":"Am J Med Genet A"},{"key":"BF5201872_CR5","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1136\/jmg.2004.028787","volume":"42","author":"A Slavotinek","year":"2005","unstructured":"Slavotinek A, Lee SS, Davis R et al: Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet 2005; 42: 730\u2013736.","journal-title":"J Med Genet"},{"key":"BF5201872_CR6","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/ajmg.a.31025","volume":"140","author":"S Kantarci","year":"2006","unstructured":"Kantarci S, Casavant D, Prada C et al: Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A 2006; 140: 17\u201323.","journal-title":"Am J Med Genet A"},{"key":"BF5201872_CR7","doi-asserted-by":"publisher","first-page":"4495","DOI":"10.1128\/MCB.19.6.4495","volume":"19","author":"JR Lu","year":"1999","unstructured":"Lu JR, McKinsey TA, Xu H et al: FOG2, a heart- and brain-enriched cofactor for GATA transcription factors. Mol Cell Biol 1999; 19: 4495\u20134502.","journal-title":"Mol Cell Biol"},{"key":"BF5201872_CR8","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1073\/pnas.96.3.950","volume":"96","author":"SG Tevosian","year":"1999","unstructured":"Tevosian SG, Deconinck AE, Cantor AB et al: FOG2: a novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped. Proc Natl Acad Sci USA 1999; 96: 950\u2013955.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201872_CR9","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/S0092-8674(00)80885-5","volume":"101","author":"SG Tevosian","year":"2000","unstructured":"Tevosian SG, Deconinck AE, Tanaka M et al: FOG2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell 2000; 101: 729\u2013739.","journal-title":"Cell"},{"key":"BF5201872_CR10","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1101\/gad.875201","volume":"15","author":"JD Crispino","year":"2001","unstructured":"Crispino JD, Lodish MB, Thurberg BL et al: Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 2001; 15: 839\u2013844.","journal-title":"Genes Dev"},{"key":"BF5201872_CR11","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1371\/journal.pgen.0010010","volume":"1","author":"KG Ackerman","year":"2005","unstructured":"Ackerman KG, Herron BJ, Vargas SO et al: Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 2005; 1: 58\u201365.","journal-title":"PLoS Genet"},{"key":"BF5201872_CR12","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1242\/dev.124.14.2691","volume":"124","author":"P Soriano","year":"1997","unstructured":"Soriano P : The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 1997; 124: 2691\u20132700.","journal-title":"Development"},{"key":"BF5201872_CR13","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1242\/dev.00241","volume":"130","author":"MD Tallquist","year":"2003","unstructured":"Tallquist MD, Soriano P : Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells. Development 2003; 130: 507\u2013518.","journal-title":"Development"},{"key":"BF5201872_CR14","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1038\/ng1415","volume":"36","author":"H Ding","year":"2004","unstructured":"Ding H, Wu X, Bostrom H et al: A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling. Nat Genet 2004; 36: 1111\u20131116.","journal-title":"Nat Genet"},{"key":"BF5201872_CR15","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1002\/dvdy.20197","volume":"232","author":"X Xu","year":"2005","unstructured":"Xu X, Bringas Jr P, Soriano P, Chai Y : PDGFR-alpha signaling is critical for tooth cusp and palate morphogenesis. Dev Dyn 2005; 232: 75\u201384.","journal-title":"Dev Dyn"},{"key":"BF5201872_CR16","doi-asserted-by":"crossref","first-page":"4519","DOI":"10.1242\/dev.127.21.4519","volume":"127","author":"T Sun","year":"2000","unstructured":"Sun T, Jayatilake D, Afink GB et al: A human YAC transgene rescues craniofacial and neural tube development in PDGFRalpha knockout mice and uncovers a role for PDGFRalpha in prenatal lung growth. Development 2000; 127: 4519\u20134529.","journal-title":"Development"},{"key":"BF5201872_CR17","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1002\/ajmg.a.20381","volume":"124","author":"AM Slavotinek","year":"2004","unstructured":"Slavotinek AM : Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 2004; 124: 427\u2013433.","journal-title":"Am J Med Genet A"},{"key":"BF5201872_CR18","doi-asserted-by":"publisher","first-page":"5357","DOI":"10.1200\/JCO.2005.14.068","volume":"23","author":"CL Corless","year":"2005","unstructured":"Corless CL, Schroeder A, Griffith D et al: PDGFR\u00c1 mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357\u20135364.","journal-title":"J Clin Oncol"},{"key":"BF5201872_CR19","doi-asserted-by":"publisher","first-page":"660","DOI":"10.1016\/S0016-5085(03)01046-1","volume":"125","author":"S Hirota","year":"2003","unstructured":"Hirota S, Ohashi A, Nishida T et al: Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003; 125: 660\u2013667.","journal-title":"Gastroenterology"},{"key":"BF5201872_CR20","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/sj.onc.1206160","volume":"22","author":"ID Clarke","year":"2003","unstructured":"Clarke ID, Dirks PB : A human brain tumor-derived PDGFR-alpha deletion mutant is transforming. Oncogene 2003; 22: 722\u2013733.","journal-title":"Oncogene"},{"key":"BF5201872_CR21","doi-asserted-by":"publisher","first-page":"14344","DOI":"10.1073\/pnas.0507200102","volume":"102","author":"V Rand","year":"2005","unstructured":"Rand V, Huang J, Stockwell T et al: Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas. Proc Natl Acad Sci USA 2005; 102: 14344\u201314349.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201872_CR22","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/S1535-6108(03)00108-9","volume":"3","author":"J Cools","year":"2003","unstructured":"Cools J, Stover EH, Boulton CL et al: PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFR\u03b1lpha-induced myeloproliferative disease. Cancer Cell 2003; 3: 459\u2013469.","journal-title":"Cancer Cell"},{"key":"BF5201872_CR23","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/S0925-4439(02)00175-8","volume":"1588","author":"PH Joosten","year":"2004","unstructured":"Joosten PH, Toepoel M, van Oosterhout D, Afink GB, van Zoelen EJ : A regulating element essential for PDGFRA transcription is recognized by neural tube defect-associated PRX homeobox transcription factors. Biochim Biophys Acta 2004; 1588: 254\u2013260.","journal-title":"Biochim Biophys Acta"},{"key":"BF5201872_CR24","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.ymgme.2003.11.003","volume":"81","author":"H Zhu","year":"2004","unstructured":"Zhu H, Wicker NJ, Volcik K et al: Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. Mol Genet Metab 2004; 81: 127\u2013132.","journal-title":"Mol Genet Metab"},{"key":"BF5201872_CR25","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1002\/ajmg.a.31002","volume":"139","author":"KS Au","year":"2005","unstructured":"Au KS, Northrup H, Kirkpatrick TJ et al: Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele. Am J Med Genet A 2005; 139: 194\u2013198.","journal-title":"Am J Med Genet A"},{"key":"BF5201872_CR26","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1038\/sj.ejhg.5201652","volume":"14","author":"AM Slavotinek","year":"2006","unstructured":"Slavotinek AM, Moshrefi A, Davis R et al: Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1\u201315q26.2. Eur J Hum Genet 2006; 14: 999\u20131008.","journal-title":"Eur J Hum Genet"},{"key":"BF5201872_CR27","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1038\/376768a0","volume":"376","author":"F Bladt","year":"2005","unstructured":"Bladt F, Riethmacher D, Isenmann S, Aguzzi A, Birchmeier C : Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud. Nature 2005; 376: 768\u2013771.","journal-title":"Nature"},{"key":"BF5201872_CR28","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1073\/pnas.96.3.956","volume":"96","author":"EC Svensson","year":"1999","unstructured":"Svensson EC, Tufts RL, Polk CE, Leiden JM : Molecular cloning of FOG2: a modulator of transcription factor GATA-4 in cardiomyocytes. Proc Natl Acad Sci USA 1999; 96: 956\u2013961.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5201872_CR29","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/j.ydbio.2006.09.050","volume":"301","author":"PY Jay","year":"2006","unstructured":"Jay PY, Bielinska M, Erlich JM et al: Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 2006; 301: 602\u2013614.","journal-title":"Dev Biol"},{"key":"BF5201872_CR30","doi-asserted-by":"publisher","first-page":"28029","DOI":"10.1074\/jbc.M103577200","volume":"276","author":"GS Huggins","year":"2001","unstructured":"Huggins GS, Bacani CJ, Boltax J, Aikawa R, Leiden JM : Friend of GATA 2 physically interacts with chicken ovalbumin upstream promoter-TF2 (COUP-TF2) and COUP-TF3 and represses COUP-TF2-dependent activation of the atrial natriuretic factor promoter. J Biol Chem 2001; 276: 28029\u201328036.","journal-title":"J Biol Chem"},{"key":"BF5201872_CR31","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1086\/429842","volume":"76","author":"M Klaassens","year":"2005","unstructured":"Klaassens M, van Dooren M, Eussen HJ et al: Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 2005; 76: 877\u2013882.","journal-title":"Am J Hum Genet"},{"key":"BF5201872_CR32","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1002\/pd.1463","volume":"26","author":"P Prontera","year":"2006","unstructured":"Prontera P, Buldrini B, Aiello V et al: Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. Prenat Diagn 2006; 26: 571\u2013576.","journal-title":"Prenat Diagn"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201872.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201872","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201872.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:39:03Z","timestamp":1684373943000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201872"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,13]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["BF5201872"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201872","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,13]]}}}