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Volumn 29, Issue 1, 2011, Pages 25-39

Recent developments in the genetic factors underlying congenital diaphragmatic hernia

Author keywords

Congenital diaphragmatic hernia; Diaphragm; Genetics; Lung; Mesenchymal cell function; Retinoic acid; Retinoid signalling

Indexed keywords

CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 2; CYTOCHROME P450 26A1; ORPHAN NUCLEAR RECEPTOR; RETINAL DEHYDROGENASE; RETINOIC ACID; RETINOIC ACID RECEPTOR; RETINOIC ACID RECEPTOR ALPHA; RETINOIC ACID RECEPTOR GAMMA; RETINOID; RETINOID X RECEPTOR; RETINOID X RECEPTOR ALPHA; RETINOL BINDING PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA; TRANSCRIPTION FACTOR GATA 4; WT1 PROTEIN; ZINC FINGER PROTEIN;

EID: 79951800368     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000322422     Document Type: Review
Times cited : (34)

References (126)
  • 1
    • 0027092777 scopus 로고
    • A population-based study of congenital diaphragmatic hernia
    • DOI 10.1002/tera.1420460605
    • Torfs CP, Curry CJ, Bateson TF, Honore LH: A population-based study of congenital diaphragmatic hernia. Teratology 1992; 46: 555-565. (Pubitemid 23018726)
    • (1992) Teratology , vol.46 , Issue.6 , pp. 555-565
    • Torfs, C.P.1    Curry, C.J.R.2    Bateson, T.F.3    Honore, L.H.4
  • 2
    • 0033888928 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia: A meta-analysis of mortality factors
    • DOI 10.1053/jpsu.2000.8725
    • Skari H, Bjornland K, Haugen G, Egeland T, Emblem R: Congenital diaphragmatic hernia: a meta-analysis of mortality factors. J Pediatr Surg 2000; 35: 1187-1197. (Pubitemid 30640208)
    • (2000) Journal of Pediatric Surgery , vol.35 , Issue.8 , pp. 1187-1197
    • Skari, H.1    Bjornland, K.2    Haugen, G.3    Egeland, T.4    Emblem, R.5
  • 3
    • 62949133468 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia: Comparison of animal models and relevance to the human situation
    • Van Loenhout RB, Tibboel D, Post M, Keijzer R: Congenital diaphragmatic hernia: comparison of animal models and relevance to the human situation. Neonatology 2009; 96: 137-149.
    • (2009) Neonatology , vol.96 , pp. 137-149
    • Van Loenhout, R.B.1    Tibboel, D.2    Post, M.3    Keijzer, R.4
  • 4
    • 34249063569 scopus 로고    scopus 로고
    • Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
    • DOI 10.1002/ajmg.c.30126
    • Pober BR: Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 2007; 145C:158-171. (Pubitemid 46802314)
    • (2007) American Journal of Medical Genetics, Part C: Seminars in Medical Genetics , vol.145 , Issue.2 , pp. 158-171
    • Pober, B.R.1
  • 5
    • 55049095560 scopus 로고    scopus 로고
    • Associated malformations in cases with congenital diaphragmatic hernia
    • Stoll C, Alembik Y, Dott B, Roth MP: Associated malformations in cases with congenital diaphragmatic hernia. Genet Couns 2008; 19: 331-339.
    • (2008) Genet Couns , vol.19 , pp. 331-339
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 9
    • 70449447684 scopus 로고    scopus 로고
    • Pulmonary hypoplasia-diaphragmatic herniaanophthalmia- cardiac defect (PDAC) syndrome due to STRA6 mutations - What are the minimal criteria?
    • Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS: Pulmonary hypoplasia-diaphragmatic herniaanophthalmia- cardiac defect (PDAC) syndrome due to STRA6 mutations - what are the minimal criteria? Am J Med Genet A 2009; 149A:2457-2463.
    • (2009) Am J Med Genet A , vol.149 A , pp. 2457-2463
    • Segel, R.1    Levy-Lahad, E.2    Pasutto, F.3    Picard, E.4    Rauch, A.5    Alterescu, G.6    Schimmel, M.S.7
  • 15
    • 33745286844 scopus 로고    scopus 로고
    • Expanding the phenotype of craniofrontonasal syndrome: Two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
    • DOI 10.1038/sj.ejhg.5201633, PII 5201633
    • Vasudevan PC, Twigg SR, Mulliken JB, Cook JA, Quarrell OW, Wilkie AO: Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 2006; 14: 884-887. (Pubitemid 43923376)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.7 , pp. 884-887
    • Vasudevan, P.C.1    Twigg, S.R.F.2    Mulliken, J.B.3    Cook, J.A.4    Quarrell, O.W.J.5    Wilkie, A.O.M.6
  • 19
    • 33747768579 scopus 로고    scopus 로고
    • 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
    • DOI 10.1038/sj.ejhg.5201652, PII 5201652
    • Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA: 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 2006; 14: 999-1008. (Pubitemid 44275833)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.9 , pp. 999-1008
    • Slavotinek, A.M.1    Moshrefi, A.2    Davis, R.3    Leeth, E.4    Schaeffer, G.B.5    Burchard, G.E.6    Shaw, G.M.7    James, B.8    Ptacek, L.9    Pennacchio, L.A.10
  • 21
    • 0018305302 scopus 로고
    • A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
    • DOI 10.1007/BF00295591
    • Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H: A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 1979; 50: 65-70. (Pubitemid 9244832)
    • (1979) Human Genetics , vol.50 , Issue.1 , pp. 65-70
    • Fryns, J.P.1    Moerman, F.2    Goddeeris, P.3
  • 22
    • 0024818307 scopus 로고
    • UN NOUVEAU SYNDROME POLYMALFORMATIF ET SUBLETHAL ASSOCIANT HERNIE DIAPHRAGMATIQUE, HYPOPLASIE DIGITALE DISTALE ET ANOMALIES CRANIOFACIALES LE 'SYNDROME DE FRYNS'
    • Fryns JP, Moerman P, Van den Berghe H, Ayme S: A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The 'Fryns syndrome' (in French). J Genet Hum 1989; 37: 203-205. (Pubitemid 20064960)
    • (1989) Journal de Genetique Humaine , vol.37 , Issue.3 , pp. 203-205
    • Fryns, J.P.1    Moerman, Ph.2    Van Den Berghe, H.3    Ayme, S.4
  • 24
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: A review of the phenotype and diagnostic guidelines
    • Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 2004; 124A:427-433. (Pubitemid 38141391)
    • (2004) American Journal of Medical Genetics , vol.124 A , Issue.4 , pp. 427-433
    • Slavotinek, A.M.1
  • 27
    • 76249088926 scopus 로고    scopus 로고
    • Role of nutrition, lifestyle factors, and genes in the pathogenesis of congenital diaphragmatic hernia: Human and animal studies
    • Beurskens LW, Tibboel D, Steegers-Theunissen RP: Role of nutrition, lifestyle factors, and genes in the pathogenesis of congenital diaphragmatic hernia: human and animal studies. Nutr Rev 2009; 67: 719-730.
    • (2009) Nutr Rev , vol.67 , pp. 719-730
    • Beurskens, L.W.1    Tibboel, D.2    Steegers-Theunissen, R.P.3
  • 30
    • 33846044214 scopus 로고    scopus 로고
    • Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects
    • DOI 10.1016/j.ydbio.2006.09.050, PII S0012160606012668
    • Jay PY, Bielinska M, Erlich JM, Mannisto S, Pu WT, Heikinheimo M, Wilson DB: Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 2007; 301: 602-614. (Pubitemid 46073982)
    • (2007) Developmental Biology , vol.301 , Issue.2 , pp. 602-614
    • Jay, P.Y.1    Bielinska, M.2    Erlich, J.M.3    Mannisto, S.4    Pu, W.T.5    Heikinheimo, M.6    Wilson, D.B.7
  • 32
    • 0037405341 scopus 로고    scopus 로고
    • Etiology of congenital diaphragmatic hernia: The retinoid hypothesis
    • DOI 10.1203/01.PDR.0000062660.12769.E6
    • Greer JJ, Babiuk RP, Thebaud B: Etiology of congenital diaphragmatic hernia: the retinoid hypothesis. Pediatr Res 2003; 53: 726-730. (Pubitemid 36504712)
    • (2003) Pediatric Research , vol.53 , Issue.5 , pp. 726-730
    • Greer, J.J.1    Babiuk, R.P.2    Thebaud, B.3
  • 33
    • 34548691008 scopus 로고    scopus 로고
    • The discovery of microdeletion syndromes in the post-genomic era: Review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
    • DOI 10.1097/GIM.0b013e3181484b49, PII 0012581720070900000008
    • Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T: The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. Genet Med 2007; 9: 607-616. (Pubitemid 47415270)
    • (2007) Genetics in Medicine , vol.9 , Issue.9 , pp. 607-616
    • Shaffer, L.G.1    Theisen, A.2    Bejjani, B.A.3    Ballif, B.C.4    Aylsworth, A.S.5    Lim, C.6    McDonald, M.7    Ellison, J.W.8    Kostiner, D.9    Saitta, S.10    Shaikh, T.11
  • 38
    • 0037331717 scopus 로고    scopus 로고
    • Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents
    • Mey J, Babiuk RP, Clugston R, Zhang W, Greer JJ: Retinal dehydrogenase-2 is inhibited by compounds that induce congenital diaphragmatic hernias in rodents. Am J Pathol 2003; 162: 673-679. (Pubitemid 36267874)
    • (2003) American Journal of Pathology , vol.162 , Issue.2 , pp. 673-679
    • Mey, J.1    Babiuk, R.P.2    Clugston, R.3    Zhang, W.4    Greer, J.J.5
  • 40
    • 77249097944 scopus 로고    scopus 로고
    • Understanding abnormal retinoid signaling as a causative mechanism in congenital diaphragmatic hernia
    • Clugston RD, Zhang W, Alvarez S, De Lera AR, Greer JJ: Understanding abnormal retinoid signaling as a causative mechanism in congenital diaphragmatic hernia. Am J Respir Cell Mol Biol 2010; 42: 276-285.
    • (2010) Am J Respir Cell Mol Biol , vol.42 , pp. 276-285
    • Clugston, R.D.1    Zhang, W.2    Alvarez, S.3    De Lera, A.R.4    Greer, J.J.5
  • 46
    • 26244453164 scopus 로고    scopus 로고
    • Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues
    • Maki JM, Sormunen R, Lippo S, Kaarteenaho- Wiik R, Soininen R, Myllyharju J: Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues. Am J Pathol 2005; 167: 927-936. (Pubitemid 41416246)
    • (2005) American Journal of Pathology , vol.167 , Issue.4 , pp. 927-936
    • Maki, J.M.1    Sormunen, R.2    Lippo, S.3    Kaarteenaho-Wiik, R.4    Soininen, R.5    Myllyharju, J.6
  • 48
    • 34247254142 scopus 로고    scopus 로고
    • Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis
    • DOI 10.2353/ajpath.2006.060445
    • Clugston RD, Klattig J, Englert C, Clagett- Dame M, Martinovic J, Benachi A, Greer JJ: Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis. Am J Pathol 2006; 169: 1541-1549. (Pubitemid 351181987)
    • (2006) American Journal of Pathology , vol.169 , Issue.5 , pp. 1541-1549
    • Clugston, R.D.1    Klattig, J.2    Englert, C.3    Clagett-Dame, M.4    Martinovic, J.5    Benachi, A.6    Greer, J.J.7
  • 49
    • 0036802645 scopus 로고    scopus 로고
    • Wnt7b regulates mesenchymal proliferation and vascular development in the lung
    • Shu W, Jiang YQ, Lu MM, Morrisey EE: Wnt7b regulates mesenchymal proliferation and vascular development in the lung. Development 2002; 129: 4831-4842. (Pubitemid 35277208)
    • (2002) Development , vol.129 , Issue.20 , pp. 4831-4842
    • Shu, W.1    Jiang, Y.Q.2    Lu, M.M.3    Morrisey, E.E.4
  • 55
    • 0033036969 scopus 로고    scopus 로고
    • Transgenic rescue of congenital heart disease and spina bifida in Splotch mice
    • Li J, Liu KC, Jin F, Lu MM, Epstein JA: Transgenic rescue of congenital heart disease and spina bifida in Splotch mice. Development 1999; 126: 2495-2503. (Pubitemid 29299018)
    • (1999) Development , vol.126 , Issue.11 , pp. 2495-2503
    • Li, J.1    Liu, K.C.2    Jin, F.3    Lu, M.M.4    Epstein, J.A.5
  • 56
    • 0028073019 scopus 로고
    • Function of the retinoic acid receptors (RARs) during development. II. Multiple abnormalities at various stages of organogenesis in RAR double mutants
    • Mendelsohn C, Lohnes D, Decimo D, Lufkin T, LeMeur M, Chambon P, Mark M: Function of the retinoic acid receptors (RARs) during development. II. Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 1994; 120: 2749-2771.
    • (1994) Development , vol.120 , pp. 2749-2771
    • Mendelsohn, C.1    Lohnes, D.2    Decimo, D.3    Lufkin, T.4    Lemeur, M.5    Chambon, P.6    Mark, M.7
  • 61
    • 0141783992 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice
    • DOI 10.1016/S0925-4773(03)00161-8
    • Liu J, Zhang L, Wang D, Shen H, Jiang M, Mei P, Hayden PS, Sedor JR, Hu H: Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice. Mech Dev 2003; 120: 1059-1070. (Pubitemid 37205048)
    • (2003) Mechanisms of Development , vol.120 , Issue.9 , pp. 1059-1070
    • Liu, J.1    Zhang, L.2    Wang, D.3    Shen, H.4    Jiang, M.5    Mei, P.6    Hayden, P.S.7    Sedor, J.R.8    Hu, H.9
  • 63
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • DOI 10.1038/383407a0
    • Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA: Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996; 383: 407-413. (Pubitemid 26330823)
    • (1996) Nature , vol.383 , Issue.6599 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3    Young, K.E.4    Corden, J.L.5    Westphal, H.6    Beachy, P.A.7
  • 64
    • 0031711075 scopus 로고    scopus 로고
    • Sonic hedgehog is essential to foregut development
    • DOI 10.1038/1717
    • Litingtung Y, Lei L, Westphal H, Chiang C: Sonic hedgehog is essential to foregut development. Nat Genet 1998; 20: 58-61. (Pubitemid 28410345)
    • (1998) Nature Genetics , vol.20 , Issue.1 , pp. 58-61
    • Litingtung, Y.1    Lei, L.2    Westphal, H.3    Chiang, C.4
  • 65
    • 0035141226 scopus 로고    scopus 로고
    • Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway
    • DOI 10.1053/jpsu.2001.20722
    • Kim PC, Mo R, Hui CC: Murine models of VACTERL syndrome: role of sonic hedgehog signaling pathway. J Pediatr Surg 2001; 36: 381-384. (Pubitemid 32112563)
    • (2001) Journal of Pediatric Surgery , vol.36 , Issue.2 , pp. 381-384
    • Kim, P.C.W.1    Mo, R.2    Hui, C.-C.3
  • 66
    • 0032563948 scopus 로고    scopus 로고
    • Sonic hedgehog regulates branching morphogenesis in the mammalian lung
    • Pepicelli CV, Lewis PM, McMahon AP: Sonic hedgehog regulates branching morphogenesis in the mammalian lung. Curr Biol 1998; 8: 1083-1086. (Pubitemid 28451033)
    • (1998) Current Biology , vol.8 , Issue.19 , pp. 1083-1086
    • Pepicelli, C.V.1    Lewis, P.M.2    McMahon, A.P.3
  • 67
    • 0031683165 scopus 로고    scopus 로고
    • Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus
    • DOI 10.1038/1711
    • Motoyama J, Liu J, Mo R, Ding Q, Post M, Hui CC: Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 1998; 20: 54-57. (Pubitemid 28410344)
    • (1998) Nature Genetics , vol.20 , Issue.1 , pp. 54-57
    • Motoyama, J.1    Liu, J.2    Mo, R.3    Ding, Q.4    Post, M.5    Hui, C.-C.6
  • 68
    • 0033678523 scopus 로고    scopus 로고
    • A human YAC transgene rescues craniofacial and neural tube development in PDGFR knockout mice and uncovers a role for PDGFR in prenatal lung growth
    • Sun T, Jayatilake D, Afink GB, Ataliotis P, Nister M, Richardson WD, Smith HK: A human YAC transgene rescues craniofacial and neural tube development in PDGFR knockout mice and uncovers a role for PDGFR in prenatal lung growth. Development 2000; 127: 4519-4529.
    • (2000) Development , vol.127 , pp. 4519-4529
    • Sun, T.1    Jayatilake, D.2    Afink, G.B.3    Ataliotis, P.4    Nister, M.5    Richardson, W.D.6    Smith, H.K.7
  • 69
    • 34548185971 scopus 로고    scopus 로고
    • Candidate genes for congenital diaphragmatic hernia from animal models: Sequencing of FOG2 and PDGFR- reveals rare variants in diaphragmatic hernia patients
    • Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM: Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFR- reveals rare variants in diaphragmatic hernia patients. Eur J Hum Genet 2007; 15: 950-958.
    • (2007) Eur J Hum Genet , vol.15 , pp. 950-958
    • Bleyl, S.B.1    Moshrefi, A.2    Shaw, G.M.3    Saijoh, Y.4    Schoenwolf, G.C.5    Pennacchio, L.A.6    Slavotinek, A.M.7
  • 70
    • 36248966403 scopus 로고    scopus 로고
    • Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm
    • DOI 10.1111/j.1742-4658.2007.06143.x
    • Baertschi S, Zhuang L, Trueb B: Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm. FEBS J 2007; 274: 6241-6253. (Pubitemid 350135342)
    • (2007) FEBS Journal , vol.274 , Issue.23 , pp. 6241-6253
    • Baertschi, S.1    Zhuang, L.2    Trueb, B.3
  • 72
    • 0034956610 scopus 로고    scopus 로고
    • Lung hypoplasia and neonatal death in Fgf9-null mice identify this gene as an essential regulator of lung mesenchyme
    • Colvin JS, White AC, Pratt SJ, Ornitz DM: Lung hypoplasia and neonatal death in Fgf9- null mice identify this gene as an essential regulator of lung mesenchyme. Development 2001; 128: 2095-2106. (Pubitemid 32600470)
    • (2001) Development , vol.128 , Issue.11 , pp. 2095-2106
    • Colvin, J.S.1    White, A.C.2    Pratt, S.J.3    Ornitz, D.M.4
  • 73
    • 0032532479 scopus 로고    scopus 로고
    • Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless
    • Min H, Danilenko DM, Scully SA, Bolon B, Ring BD, Tarpley JE, DeRose M, Simonet WS: Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless. Genes Dev 1998; 12: 3156-3161. (Pubitemid 28496260)
    • (1998) Genes and Development , vol.12 , Issue.20 , pp. 3156-3161
    • Min, H.1    Danilenko, D.M.2    Scully, S.A.3    Bolon, B.4    Ring, B.D.5    Tarpley, J.E.6    DeRose, M.7    Simonet, W.S.8
  • 74
    • 24344499043 scopus 로고    scopus 로고
    • Lung development is not necessary for diaphragm development in mice
    • DOI 10.1016/j.jpedsurg.2005.05.059, PII S0022346805004094
    • Arkovitz MS, Hyatt BA, Shannon JM: Lung development is not necessary for diaphragm development in mice. J Pediatr Surg 2005; 40: 1390-1394. (Pubitemid 41248000)
    • (2005) Journal of Pediatric Surgery , vol.40 , Issue.9 , pp. 1390-1394
    • Arkovitz, M.S.1    Hyatt, B.A.2    Shannon, J.M.3
  • 76
    • 0036261649 scopus 로고    scopus 로고
    • Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants
    • DOI 10.1128/MCB.22.12.4147-4157.2002
    • Goshu E, Jin H, Fasnacht R, Sepenski M, Michaud JL, Fan CM: Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants. Mol Cell Biol 2002; 22: 4147-4157. (Pubitemid 34556585)
    • (2002) Molecular and Cellular Biology , vol.22 , Issue.12 , pp. 4147-4157
    • Goshu, E.1    Jin, H.2    Fasnacht, R.3    Sepenski, M.4    Michaud, J.L.5    Fan, C.-M.6
  • 78
    • 84958699162 scopus 로고
    • An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation
    • Wilson JG, Roth CB, Warkany J: 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 1953; 92: 189-217.
    • (1953) Am J Anat , vol.92 , pp. 189-217
    • Wilson, J.G.1    Roth, C.B.2    Warkany, J.3
  • 81
    • 13544276345 scopus 로고    scopus 로고
    • Differential effects of vitamin A on fetal lung growth and diaphragmatic formation in nitrofen-induced rat model
    • DOI 10.1016/j.pupt.2004.11.004
    • Oshiro T, Asato Y, Sakanashi M, Ohta T, Sugahara K: Differential effects of vitamin A on fetal lung growth and diaphragmatic formation in nitrofen-induced rat model. Pulm Pharmacol Ther 2005; 18: 155-164. (Pubitemid 40222109)
    • (2005) Pulmonary Pharmacology and Therapeutics , vol.18 , Issue.3 , pp. 155-164
    • Oshiro, T.1    Asato, Y.2    Sakanashi, M.3    Ohta, T.4    Sugahara, K.5
  • 82
    • 34247195072 scopus 로고    scopus 로고
    • Altered regulation of retinoic acid synthesis in nitrofen-induced hypoplastic lung
    • DOI 10.1007/s00383-006-1848-8
    • Nakazawa N, Takayasu H, Montedonico S, Puri P: Altered regulation of retinoic acid synthesis in nitrofen-induced hypoplastic lung. Pediatr Surg Int 2007; 23: 391-396. (Pubitemid 46626221)
    • (2007) Pediatric Surgery International , vol.23 , Issue.5 , pp. 391-396
    • Nakazawa, N.1    Takayasu, H.2    Montedonico, S.3    Puri, P.4
  • 83
    • 33846512220 scopus 로고    scopus 로고
    • Disturbance of retinol transportation causes nitrofen-induced hypoplastic lung
    • DOI 10.1016/j.jpedsurg.2006.10.028, PII S0022346806007664
    • Nakazawa N, Montedonico S, Takayasu H, Paradisi F, Puri P: Disturbance of retinol transportation causes nitrofen-induced hypoplastic lung. J Pediatr Surg 2007; 42: 345-349. (Pubitemid 46161556)
    • (2007) Journal of Pediatric Surgery , vol.42 , Issue.2 , pp. 345-349
    • Nakazawa, N.1    Montedonico, S.2    Takayasu, H.3    Paradisi, F.4    Puri, P.5
  • 84
    • 0036029643 scopus 로고    scopus 로고
    • The role of vitamin A in mammalian reproduction and embryonic development
    • DOI 10.1146/annurev.nutr.22.010402.102745E
    • Clagett-Dame M, DeLuca H: The role of vitamin A in mammalian reproduction and embryonic development. Annu Rev Nutr 2002; 22: 347-381. (Pubitemid 35229924)
    • (2002) Annual Review of Nutrition , vol.22 , pp. 347-381
    • Clagett-Dame, M.1    DeLuca, H.F.2
  • 85
    • 45449103055 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia and retinoids: Searching for an etiology
    • Montedonico S, Nakazawa N, Puri P: Congenital diaphragmatic hernia and retinoids: searching for an etiology. Pediatr Surg Int 2008; 24: 755-761.
    • (2008) Pediatr Surg Int , vol.24 , pp. 755-761
    • Montedonico, S.1    Nakazawa, N.2    Puri, P.3
  • 86
    • 45549091674 scopus 로고    scopus 로고
    • Retinoic acid in development: Towards an integrated view
    • DOI 10.1038/nrg2340, PII NRG2340
    • Niederreither K, Dolle P: Retinoic acid in development: towards an integrated view. Nat Rev Genet 2008; 9: 541-553. (Pubitemid 351861538)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.7 , pp. 541-553
    • Niederreither, K.1    Dolle, P.2
  • 87
    • 68949128987 scopus 로고    scopus 로고
    • The etiology of congenital diaphragmatic hernia: Still largely unknown?
    • Klaassens M, De Klein A, Tibboel D: The etiology of congenital diaphragmatic hernia: still largely unknown? Eur J Med Genet 2009; 52: 281-286.
    • (2009) Eur J Med Genet , vol.52 , pp. 281-286
    • Klaassens, M.1    De Klein, A.2    Tibboel, D.3
  • 88
    • 77952314065 scopus 로고    scopus 로고
    • From carrot to clinic: An overview of the retinoic acid signaling pathway
    • Theodosiou M, Laudet V, Schubert M: From carrot to clinic: an overview of the retinoic acid signaling pathway. Cell Mol Life Sci 2010; 67: 1423-1445.
    • (2010) Cell Mol Life Sci , vol.67 , pp. 1423-1445
    • Theodosiou, M.1    Laudet, V.2    Schubert, M.3
  • 91
    • 0034671733 scopus 로고    scopus 로고
    • The zinc finger-containing transcription factors GATA-4, -5, and -6: Ubiquitously expressed regulators of tissue-specific gene expression
    • DOI 10.1074/jbc.R000029200
    • Molkentin JD: The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissuespecific gene expression. J Biol Chem 2000; 275: 38949-38952. (Pubitemid 32058903)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.50 , pp. 38949-38952
    • Molkentin, J.D.1
  • 93
    • 0030996908 scopus 로고    scopus 로고
    • Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis
    • Molkentin JD, Lin Q, Duncan SA, Olson EN: Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 1997; 11: 1061-1072. (Pubitemid 27199884)
    • (1997) Genes and Development , vol.11 , Issue.8 , pp. 1061-1072
    • Molkentin, J.D.1    Lin, Q.2    Duncan, S.A.3    Olson, E.N.4
  • 99
    • 26444441866 scopus 로고    scopus 로고
    • GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart
    • Reamon-Buettner SM, Borlak J: GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 2005; 42:e32.
    • (2005) J Med Genet , vol.42
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 100
    • 34547137690 scopus 로고    scopus 로고
    • Mutations in the 3-untranslated region of GATA4 as molecular hotspots for congenital heart disease
    • Reamon-Buettner SM, Cho SH, Borlak J: Mutations in the 3 -untranslated region of GATA4 as molecular hotspots for congenital heart disease. BMC Med Genet 2007; 8: 38.
    • (2007) BMC Med Genet , vol.8 , pp. 38
    • Reamon-Buettner, S.M.1    Cho, S.H.2    Borlak, J.3
  • 101
    • 0027407954 scopus 로고
    • Normal development and growth of mice carrying a targeted disruption of the 1 -retinoic acid receptor gene
    • Li E, Sucov HM, Lee KF, Evans RM, Jaenisch R: Normal development and growth of mice carrying a targeted disruption of the 1 -retinoic acid receptor gene. Proc Natl Acad Sci USA 1993; 90: 1590-1594.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 1590-1594
    • Li, E.1    Sucov, H.M.2    Lee, K.F.3    Evans, R.M.4    Jaenisch, R.5
  • 102
    • 0028088752 scopus 로고
    • Function of the retinoic acid receptors (RARs) during development. I. Craniofacial and skeletal abnormalities in RAR double mutants
    • Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A, Gorry P, Gansmuller A, Chambon P: Function of the retinoic acid receptors (RARs) during development. I. Craniofacial and skeletal abnormalities in RAR double mutants. Development 1994; 120: 2723-2748.
    • (1994) Development , vol.120 , pp. 2723-2748
    • Lohnes, D.1    Mark, M.2    Mendelsohn, C.3    Dolle, P.4    Dierich, A.5    Gorry, P.6    Gansmuller, A.7    Chambon, P.8
  • 103
    • 0030878969 scopus 로고    scopus 로고
    • Pathogenesis of nitrofen-induced congenital diaphragmatic hernia in fetal rats
    • Allan DW, Greer JJ: Pathogenesis of nitrofen- induced congenital diaphragmatic hernia in fetal rats. J Appl Physiol 1997; 83: 338-347. (Pubitemid 27332745)
    • (1997) Journal of Applied Physiology , vol.83 , Issue.2 , pp. 338-347
    • Allan, D.W.1    Greer, J.J.2
  • 104
    • 34247211212 scopus 로고    scopus 로고
    • Diaphragm development and congenital diaphragmatic hernia
    • DOI 10.1053/j.sempedsurg.2007.01.004, PII S1055858607000054
    • Clugston RD, Greer JJ: Diaphragm development and congenital diaphragmatic hernia. Semin Pediatr Surg 2007; 16: 94-100. (Pubitemid 46617305)
    • (2007) Seminars in Pediatric Surgery , vol.16 , Issue.2 , pp. 94-100
    • Clugston, R.D.1    Greer, J.J.2
  • 105
    • 75749132075 scopus 로고    scopus 로고
    • Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen- induced congenital diaphragmatic hernia
    • Clugston RD, Zhang W, Greer JJ: Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen- induced congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 2010; 88: 15-24.
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 15-24
    • Clugston, R.D.1    Zhang, W.2    Greer, J.J.3
  • 108
    • 0033843372 scopus 로고    scopus 로고
    • Dual-hit hypothesis explains pulmonary hypoplasia in the nitrofen model of congenital diaphragmatic hernia
    • Keijzer R, Liu J, Deimling J, Tibboel D, Post M: Dual-hit hypothesis explains pulmonary hypoplasia in the nitrofen model of congenital diaphragmatic hernia. Am J Pathol 2000; 156: 1299-1306. (Pubitemid 30660008)
    • (2000) American Journal of Pathology , vol.156 , Issue.4 , pp. 1299-1306
    • Keijzer, R.1    Liu, J.2    Deimling, J.3    Tibboel, D.4    Post, M.5
  • 109
    • 70350147709 scopus 로고    scopus 로고
    • Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia
    • Doi T, Sugimoto K, Puri P: Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia. J Pediatr Surg 2009; 44: 1933-1937.
    • (2009) J Pediatr Surg , vol.44 , pp. 1933-1937
    • Doi, T.1    Sugimoto, K.2    Puri, P.3
  • 110
    • 60149097102 scopus 로고    scopus 로고
    • Up-regulation of COUP-TFII gene expression in the nitrofen- induced hypoplastic lung
    • Doi T, Sugimoto K, Puri P: Up-regulation of COUP-TFII gene expression in the nitrofen- induced hypoplastic lung. J Pediatr Surg 2009; 44: 321-324.
    • (2009) J Pediatr Surg , vol.44 , pp. 321-324
    • Doi, T.1    Sugimoto, K.2    Puri, P.3
  • 111
    • 77649180165 scopus 로고    scopus 로고
    • Upregulation of endothelin receptors A and B in the nitrofen-induced hypoplastic lung occurs early in gestation
    • Dingemann J, Doi T, Ruttenstock E, Puri P: Upregulation of endothelin receptors A and B in the nitrofen-induced hypoplastic lung occurs early in gestation. Pediatr Surg Int 2010; 26: 65-69.
    • (2010) Pediatr Surg Int , vol.26 , pp. 65-69
    • Dingemann, J.1    Doi, T.2    Ruttenstock, E.3    Puri, P.4
  • 112
    • 71649084661 scopus 로고    scopus 로고
    • Up-regulation of Wnt5a gene expression in the nitrofen-induced hypoplastic lung
    • Doi T, Puri P: Up-regulation of Wnt5a gene expression in the nitrofen-induced hypoplastic lung. J Pediatr Surg 2009; 44: 2302-2306.
    • (2009) J Pediatr Surg , vol.44 , pp. 2302-2306
    • Doi, T.1    Puri, P.2
  • 113
    • 70449793517 scopus 로고    scopus 로고
    • Upregulation of Slit-2 and Slit-3 gene expressions in the nitrofen- induced hypoplastic lung
    • Doi T, Hajduk P, Puri P: Upregulation of Slit-2 and Slit-3 gene expressions in the nitrofen- induced hypoplastic lung. J Pediatr Surg 2009; 44: 2092-2095.
    • (2009) J Pediatr Surg , vol.44 , pp. 2092-2095
    • Doi, T.1    Hajduk, P.2    Puri, P.3
  • 114
    • 77955501620 scopus 로고    scopus 로고
    • A series of observation on the expression of TGF- 1 in the lung of nitrofen-induced congenital diaphragmatic hernia rat model (in Chinese)
    • Xu C, Chen ZX, Liu WY, Wang YX, Xiong ZX: A series of observation on the expression of TGF- 1 in the lung of nitrofen-induced congenital diaphragmatic hernia rat model (in Chinese). Zhonghua Wai Ke Za Zhi 2009; 47: 301-304.
    • (2009) Zhonghua Wai Ke Za Zhi , vol.47 , pp. 301-304
    • Xu, C.1    Chen, Z.X.2    Liu, W.Y.3    Wang, Y.X.4    Xiong, Z.X.5
  • 115
    • 16644376495 scopus 로고    scopus 로고
    • Expression of angiogenesis-related factors in lungs of patients with congenital diaphragmatic hernia and pulmonary hypoplasia of other causes
    • DOI 10.1007/s10024-003-0109-2
    • De Rooij JD, Hosgor M, Ijzendoorn Y, Rottier R, Groenman FA, Tibboel D, de Krijger RR: Expression of angiogenesis-related factors in lungs of patients with congenital diaphragmatic hernia and pulmonary hypoplasia of other causes. Pediatr Dev Pathol 2004; 7: 468-477. (Pubitemid 40385237)
    • (2004) Pediatric and Developmental Pathology , vol.7 , Issue.5 , pp. 468-477
    • De Rooij, J.D.1    Hosgor, M.2    Ijzendoorn, Y.3    Rottier, R.4    Groenman, F.A.5    Tibboel, D.6    De Krijger, R.R.7
  • 116
    • 77649184357 scopus 로고    scopus 로고
    • Disturbance of parathyroid hormone-related protein signaling in the nitrofen-induced hypoplastic lung
    • Doi T, Lukosiute A, Ruttenstock E, Dingemann J, Puri P: Disturbance of parathyroid hormone-related protein signaling in the nitrofen-induced hypoplastic lung. Pediatr Surg Int 2010; 26: 45-50.
    • (2010) Pediatr Surg Int , vol.26 , pp. 45-50
    • Doi, T.1    Lukosiute, A.2    Ruttenstock, E.3    Dingemann, J.4    Puri, P.5
  • 117
    • 77649181875 scopus 로고    scopus 로고
    • Downregulation of insulin-like growth factor binding protein 3 and 5 in nitrofen-induced pulmonary hypoplasia
    • Ruttenstock E, Doi T, Dingemann J, Puri P: Downregulation of insulin-like growth factor binding protein 3 and 5 in nitrofen-induced pulmonary hypoplasia. Pediatr Surg Int 2010; 26: 59-63.
    • (2010) Pediatr Surg Int , vol.26 , pp. 59-63
    • Ruttenstock, E.1    Doi, T.2    Dingemann, J.3    Puri, P.4
  • 118
    • 77949264162 scopus 로고    scopus 로고
    • Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm
    • Lopez Jimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM: Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Hum Genet 2010; 127: 325-336.
    • (2010) Hum Genet , vol.127 , pp. 325-336
    • Lopez Jimenez, N.1    Gerber, S.2    Popovici, V.3    Mirza, S.4    Copren, K.5    Ta, L.6    Shaw, G.M.7    Trueb, B.8    Slavotinek, A.M.9
  • 119
    • 69549095707 scopus 로고    scopus 로고
    • Expression of chloride channels in trachea-occluded hyperplastic lungs and nitrofen-induced hypoplastic lungs in rats
    • Ringman UA, Zelenina M, Eklof AC, Aperia A, Frenckner B: Expression of chloride channels in trachea-occluded hyperplastic lungs and nitrofen-induced hypoplastic lungs in rats. Pediatr Surg Int 2009; 25: 799-806.
    • (2009) Pediatr Surg Int , vol.25 , pp. 799-806
    • Ringman, U.A.1    Zelenina, M.2    Eklof, A.C.3    Aperia, A.4    Frenckner, B.5
  • 121
    • 33846621582 scopus 로고    scopus 로고
    • Down-regulation of Wnt signal pathway in nitrofen-induced hypoplastic lung
    • DOI 10.1016/j.jpedsurg.2006.10.018, PII S0022346806007846
    • Takayasu H, Nakazawa N, Montedonico S, Puri P: Down-regulation of Wnt signal pathway in nitrofen-induced hypoplastic lung. J Pediatr Surg 2007; 42: 426-430. (Pubitemid 46172473)
    • (2007) Journal of Pediatric Surgery , vol.42 , Issue.2 , pp. 426-430
    • Takayasu, H.1    Nakazawa, N.2    Montedonico, S.3    Puri, P.4
  • 122
    • 33846547532 scopus 로고    scopus 로고
    • Reduced expression of aquaporin 5 water channel in nitrofen-induced hypoplastic lung with congenital diaphragmatic hernia rat model
    • DOI 10.1016/j.jpedsurg.2006.10.029, PII S0022346806007809
    • Takayasu H, Nakazawa N, Montedonico S, Puri P: Reduced expression of aquaporin-5 water channel in nitrofen-induced hypoplastic lung with congenital diaphragmatic hernia rat model. J Pediatr Surg 2007; 42: 415-419. (Pubitemid 46161570)
    • (2007) Journal of Pediatric Surgery , vol.42 , Issue.2 , pp. 415-419
    • Takayasu, H.1    Nakazawa, N.2    Montedonico, S.3    Puri, P.4
  • 123
    • 39049135752 scopus 로고    scopus 로고
    • Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia
    • DOI 10.1016/j.jpedsurg.2007.10.047, PII S0022346807008093
    • Takayasu H, Sato H, Sugimoto K, Puri P: Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia. J Pediatr Surg 2008; 43: 362-366. (Pubitemid 351232984)
    • (2008) Journal of Pediatric Surgery , vol.43 , Issue.2 , pp. 362-366
    • Takayasu, H.1    Sato, H.2    Sugimoto, K.3    Puri, P.4
  • 124
    • 37749031708 scopus 로고    scopus 로고
    • Visualizing expression patterns of Shh and Foxf1 genes in the foregut and lung buds by optical projection tomography
    • Sato H, Murphy P, Giles S, Bannigan J, Takayasu H, Puri P: Visualizing expression patterns of Shh and Foxf1 genes in the foregut and lung buds by optical projection tomography. Pediatr Surg Int 2008; 24: 3-11.
    • (2008) Pediatr Surg Int , vol.24 , pp. 3-11
    • Sato, H.1    Murphy, P.2    Giles, S.3    Bannigan, J.4    Takayasu, H.5    Puri, P.6


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