The etiology of congenital diaphragmatic hernia: Still largely unknown?

Holder, 2007, Genetic factors in congenital diaphragmatic hernia, Am. J. Hum. Genet., 80, 825, 10.1086/513442 Klaassens, 2005, 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., 76, 877, 10.1086/429842 Slavotinek, 2006, Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2, Eur. J. Hum. Genet., 10.1038/sj.ejhg.5201652 Ackerman, 2005, Fog2 is required for normal diaphragm and lung development in mice and humans, PLoS Genet., 1, 58, 10.1371/journal.pgen.0010010 You, 2005, Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia, Proc. Natl. Acad. Sci. U. S. A., 102, 16351, 10.1073/pnas.0507832102 Groenman, 2005, The molecular basis for abnormal human lung development, Biol. Neonate, 87, 164, 10.1159/000082595 Nemer, 2003, Transcriptional activation of BMP-4 and regulation of mammalian organogenesis by GATA-4 and -6, Dev. Biol., 254, 131, 10.1016/S0012-1606(02)00026-X Helvering, 2000, Regulation of the promoters for the human bone morphogenetic protein 2 and 4 genes, Gene, 256, 123, 10.1016/S0378-1119(00)00364-4 Malpel, 2000, Regulation of retinoic acid signaling during lung morphogenesis, Development, 127, 3057 Parera, 2005, Distal angiogenesis: a new concept for lung vascular morphogenesis, Am. J. Physiol. Lung Cell Mol. Physiol., 288, L141, 10.1152/ajplung.00148.2004 Dannenberg, 2003, Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas, Int. J. Cancer, 105, 190, 10.1002/ijc.11060 Hoebeeck, 2006, The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma, Int. J. Cancer, 119, 624, 10.1002/ijc.21888 Sandell, 2006, Neural crest cell plasticity. Size matters, Adv. Exp. Med. Biol., 589, 78, 10.1007/978-0-387-46954-6_5 Teramoto, 2003, Gene expression of fibroblast growth factors 10 and 7 is downregulated in the lung of nitrofen-induced diaphragmatic hernia in rats, J. Pediatr. Surg., 38, 1021, 10.1016/S0022-3468(03)00183-0 Chang, 2004, VEGF expression is downregulated in nitrofen-induced congenital diaphragmatic hernia, J. Pediatr. Surg., 39, 825, 10.1016/j.jpedsurg.2004.02.015 Unger, 2003, Down-regulation of sonic hedgehog expression in pulmonary hypoplasia is associated with congenital diaphragmatic hernia, Am. J. Pathol., 162, 547, 10.1016/S0002-9440(10)63848-5 de Rooij, 2004, Expression of angiogenesis-related factors in lungs of patients with congenital diaphragmatic hernia and pulmonary hypoplasia of other causes, Pediatr. Dev. Pathol., 7, 468, 10.1007/s10024-003-0109-2 Yu, 2001, Neural crest-derived defects in experimental congenital diaphragmatic hernia, Pediatr. Surg. Int., 17, 294, 10.1007/s003830100597 Babiuk, 2002, Diaphragm defects occur in a CDH hernia model independently of myogenesis and lung formation, Am. J. Physiol. Lung Cell Mol. Physiol., 283, L1310, 10.1152/ajplung.00257.2002 Keijzer, 2000, Hormonal modulation of fetal pulmonary development: relevance for the fetus with diaphragmatic hernia, Eur. J. Obstet. Gynecol. Reprod. Biol., 92, 127, 10.1016/S0301-2115(00)00436-X Tonnies, 2004, Comments on “congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?”, Am. J. Med. Genet. A, 131, 224, 10.1002/ajmg.a.30320 Biggio, 2004, Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?, Am. J. Med. Genet., 126A, 183, 10.1002/ajmg.a.20464 Cooney, 2001, Physiological function of the orphans GCNF and COUP-TF, Trends Endocrinol. Metab., 12, 247, 10.1016/S1043-2760(01)00424-6 Tsai, 1997, Chick ovalbumin upstream promoter-transcription factors (COUP-TFs): coming of age, Endocr. Rev., 18, 229, 10.1210/er.18.2.229 Pereira, 1999, The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development, Genes Dev., 13, 1037, 10.1101/gad.13.8.1037 Qiu, 1996, Chicken ovalbumin upstream promoter-transcription factors and their regulation, J. Steroid. Steroid. Biochem. Mol. Biol., 56, 81, 10.1016/0960-0760(95)00225-1 Wang, 2006, Retinoic acid regulates morphogenesis and patterning of posterior foregut derivatives, Dev. Biol., 297, 433, 10.1016/j.ydbio.2006.05.019 Pasutto, 2007, Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia and mental retardation, Am. J. Hum. Genet., 10.1086/512203 Golzio, 2007, Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6, Am. J. Hum. Genet., 80, 1179, 10.1086/518177 Sharp, 2007, Characterization of a recurrent 15q24 microdeletion syndrome, Hum. Mol. Genet., 16, 567, 10.1093/hmg/ddm016 Kimura, 2002, Retinoid receptors in the developing human lung, Clin. Sci. (Lond), 103, 613, 10.1042/cs1030613 Rajatapiti, 2005, Expression of glucocorticoid, retinoid, and thyroid hormone receptors during human lung development, J. Clin. Endocrinol. Metab., 90, 4309, 10.1210/jc.2005-0556 Anderson, 1941, Incidence of congenital diaphragmatic hernia in the young of rats bred on a diet deficient in vitamin A, Am. J. Dis. Child., 62, 888 Anderson, 1949, Effect of diet during pregnancy upon the incidence of congenital hereditary diaphragmatic hernia in the rat, Am. J. Pathol., 25, 163 Wilson, 1953, An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation, Am. J. Anat., 92, 189, 10.1002/aja.1000920202 Mey, 2003, Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents, Am. J. Pathol., 162, 673, 10.1016/S0002-9440(10)63861-8 Morriss-Kay, 1996, Embryonic development and pattern formation, Faseb J., 10, 961, 10.1096/fasebj.10.9.8801178 Major, 1998, Retinol status of newborn infants with congenital diaphragmatic hernia, Pediatr. Surg. Int., 13, 547, 10.1007/s003830050399 Huggins, 2001, 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., 276, 28029, 10.1074/jbc.M103577200 Cantor, 2005, Coregulation of GATA factors by the friend of GATA (FOG) family of multitype zinc finger proteins, Semin. Cell Dev. Biol., 16, 117, 10.1016/j.semcdb.2004.10.006 Clugston, 2008, Gene expression in the developing diaphragm: significance for congenital diaphragmatic hernia, Am. J. Physiol. Lung Cell Mol. Physiol., 294, L665, 10.1152/ajplung.00027.2008 Jay, 2007, Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects, Dev. Biol., 301, 602, 10.1016/j.ydbio.2006.09.050 Kostetskii, 1999, Retinoid signaling required for normal heart development regulates GATA-4 in a pathway distinct from cardiomyocyte differentiation, Dev. Biol., 206, 206, 10.1006/dbio.1998.9139 Xian, 2001, Inadequate lung development and bronchial hyperplasia in mice with a targeted deletion in the Dutt1/Robo1 gene, Proc. Natl. Acad. Sci. U. S. A., 98, 15062, 10.1073/pnas.251407098 Liu, 2003, Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice, Mech. Dev., 120, 1059, 10.1016/S0925-4773(03)00161-8 Yuan, 2003, A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3, Proc. Natl. Acad. Sci. U. S. A., 100, 5217, 10.1073/pnas.0730709100 Thomas, 1976, Bilateral congenital diaphragmatic defects in two siblings, J. Pediatr. Surg., 11, 465, 10.1016/S0022-3468(76)80206-0 Alles, 1995, Embryonic cell death patterns associated with nitrofen-induced congenital diaphragmatic hernia, J. Pediatr. Surg., 30, 353, 10.1016/0022-3468(95)90589-8 Moore, 1993 Lang, 2004, Neural crest formation and craniofacial development, 67 Jia, 2005, Slit/Robo signaling is necessary to confine early neural crest cells to the ventral migratory pathway in the trunk, Dev. Biol., 282, 411, 10.1016/j.ydbio.2005.03.021 Wickman, 1993, Nitrofen-induced congenital diaphragmatic defects in CD1 mice, Teratology, 47, 119, 10.1002/tera.1420470204 Mark, 2004, Retinoic acid signalling in the development of branchial arches, Curr. Opin. Genet. Dev., 14, 591, 10.1016/j.gde.2004.07.012 Jones, 2005 Momma, 2007, Cardiovascular anomalies associated with chromosome 22q11.2 deletion, Int. J. Cardiol., 114, 147, 10.1016/j.ijcard.2006.02.002 Lin, 2007, Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management, Am. J. Med. Genet. C Semin. Med. Genet., 145C, 201, 10.1002/ajmg.c.30131 Graziano, 2005, Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the Congenital Diaphragmatic Hernia Study Group, J. Pediatr. Surg., 40, 1045, 10.1016/j.jpedsurg.2005.03.025 Lammer, 1985, Retinoic acid embryopathy, N. Engl. J. Med., 313, 837, 10.1056/NEJM198510033131401 Matt, 2005, Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells, Development, 132, 4789, 10.1242/dev.02031 Ribes, 2006, Retinaldehyde dehydrogenase 2 (RALDH2)-mediated retinoic acid synthesis regulates early mouse embryonic forebrain development by controlling FGF and sonic hedgehog signaling, Development, 133, 351, 10.1242/dev.02204 Olson, 2006, Gene regulatory networks in the evolution and development of the heart, Science, 313, 1922, 10.1126/science.1132292 Lally, 2006, Treatment evolution in high-risk congenital diaphragmatic hernia: ten years' experience with diaphragmatic agenesis, Ann. Surg., 244, 505 Lally, 2007, Defect size determines survival in infants with congenital diaphragmatic hernia, Pediatrics, 120, e651, 10.1542/peds.2006-3040