메뉴 건너뛰기




Volumn 15, Issue 9, 2007, Pages 950-958

Candidate genes for congenital diaphragmatic hernia from animal models: Sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Author keywords

[No Author keywords available]

Indexed keywords

FRIEND OF GATA 2 PROTEIN; NUCLEAR PROTEIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN FOG2; UNCLASSIFIED DRUG;

EID: 34548185971     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201872     Document Type: Article
Times cited : (57)

References (32)
  • 1
    • 0027092777 scopus 로고
    • A population-based study of congenital diaphragmatic hernia
    • Torfs CP, Curry CJ, Bateson TF et al: A population-based study of congenital diaphragmatic hernia. Teratology 1992; 46: 555-565.
    • (1992) Teratology , vol.46 , pp. 555-565
    • Torfs, C.P.1    Curry, C.J.2    Bateson, T.F.3
  • 2
    • 20444449179 scopus 로고    scopus 로고
    • Fetal surgery for congenital diaphraTmatic hernia: The North American experience
    • Cass DL: Fetal surgery for congenital diaphraTmatic hernia: the North American experience. Semin Perinatol 2005; 29: 104-111.
    • (2005) Semin Perinatol , vol.29 , pp. 104-111
    • Cass, D.L.1
  • 3
    • 20444445000 scopus 로고    scopus 로고
    • The genetics of congenital diaphragmatic hernia
    • Slavotinek AM: The genetics of congenital diaphragmatic hernia. Semin Perinatol 2005; 29: 77-85.
    • (2005) Semin Perinatol , vol.29 , pp. 77-85
    • Slavotinek, A.M.1
  • 4
    • 25644434981 scopus 로고    scopus 로고
    • Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program
    • 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: 81-88.
    • (2005) Am J Med Genet A , vol.138 , pp. 81-88
    • Pober, B.R.1    Lin, A.2    Russell, M.3
  • 5
    • 24944579579 scopus 로고    scopus 로고
    • Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
    • 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: 730-736.
    • (2005) J Med Genet , vol.42 , pp. 730-736
    • Slavotinek, A.1    Lee, S.S.2    Davis, R.3
  • 6
    • 30144437475 scopus 로고    scopus 로고
    • Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome
    • 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: 17-23.
    • (2006) Am J Med Genet A , vol.140 , pp. 17-23
    • Kantarci, S.1    Casavant, D.2    Prada, C.3
  • 7
    • 0033049126 scopus 로고    scopus 로고
    • FOG2, a heart- and brain-enriched cofactor for GATA transcription factors
    • Lu JR, McKinsey TA, Xu H et al: FOG2, a heart- and brain-enriched cofactor for GATA transcription factors. Mol Cell Biol 1999; 19 4495-4502.
    • (1999) Mol Cell Biol , vol.19 , pp. 4495-4502
    • Lu, J.R.1    McKinsey, T.A.2    Xu, H.3
  • 8
    • 0033514314 scopus 로고    scopus 로고
    • FOG2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped
    • Aevosian 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: 950-955.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 950-955
    • Aevosian, S.G.1    Deconinck, A.E.2    Cantor, A.B.3
  • 9
    • 0034705318 scopus 로고    scopus 로고
    • FOG2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium
    • 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; 101 729-739.
    • (2000) Cell , vol.101 , pp. 729-739
    • Tevosian, S.G.1    Deconinck, A.E.2    Tanaka, M.3
  • 10
    • 0035312839 scopus 로고    scopus 로고
    • Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors
    • 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: 839-844.
    • (2001) Genes Dev , vol.15 , pp. 839-844
    • Crispino, J.D.1    Lodish, M.B.2    Thurberg, B.L.3
  • 11
    • 33645867658 scopus 로고    scopus 로고
    • Fog2 is required for normal diaphragm and lung development in mice and humans
    • 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: 58-65.
    • (2005) PLoS Genet , vol.1 , pp. 58-65
    • Ackerman, K.G.1    Herron, B.2    Vargas, S.O.3
  • 12
    • 0030808324 scopus 로고    scopus 로고
    • The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites
    • Soriano P: The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 1997; 124: 2691-2700.
    • (1997) Development , vol.124 , pp. 2691-2700
    • Soriano, P.1
  • 13
    • 0037323832 scopus 로고    scopus 로고
    • Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells
    • Tallquist MD, Soriano P: Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells. Development 2003; 130: 507-518.
    • (2003) Development , vol.130 , pp. 507-518
    • Tallquist, M.D.1    Soriano, P.2
  • 14
    • 6944220086 scopus 로고    scopus 로고
    • A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling
    • 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: 1111-1116.
    • (2004) Nat Genet , vol.36 , pp. 1111-1116
    • Ding, H.1    Wu, X.2    Bostrom, H.3
  • 15
    • 11244324381 scopus 로고    scopus 로고
    • PDGFR-alpha signaling is critical for tooth cusp and palate morphogenesis
    • Xu X, Bringas Jr P, Soriano P, Chai Y. PDGFR-alpha signaling is critical for tooth cusp and palate morphogenesis. Dev Dyn 2005; 232: 75-84.
    • (2005) Dev Dyn , vol.232 , pp. 75-84
    • Xu, X.1    Bringas Jr, P.2    Soriano, P.3    Chai, Y.4
  • 16
    • 0033678523 scopus 로고    scopus 로고
    • A human YAC transgene rescues craniofacial and neural tube development in PDGFRalpha knockout mice and uncovers a role for PDGFRalpha in prenatal lung growth
    • 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: 4519-4529.
    • (2000) Development , vol.127 , pp. 4519-4529
    • Sun, T.1    Jayatilake, D.2    Afink, G.B.3
  • 17
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: A review of the phenotype and diagnostic guidelines
    • SlavotinekAAM
    • SlavotinekAAM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A 2004; 124: 427-433.
    • (2004) Am J Med Genet A , vol.124 , pp. 427-433
  • 18
    • 23944476156 scopus 로고    scopus 로고
    • PDGFRA mutations in gastrointestinal stromal tumors: Frequency, spectrum and in vitro sensitivity to imatinib
    • Corless CL, Schroeder A, Griffith D et al: PDGFRA mutations in gastrointestinal stromal tumors: Frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357-5364.
    • (2005) J Clin Oncol , vol.23 , pp. 5357-5364
    • Corless, C.L.1    Schroeder, A.2    Griffith, D.3
  • 19
    • 0041971080 scopus 로고    scopus 로고
    • Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastro-intestinal stromal tumors
    • Hirota S, Ohashi A, Nishida T et al: Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastro-intestinal stromal tumors. Gastroenterology 2003; 125: 660-667.
    • (2003) Gastroenterology , vol.125 , pp. 660-667
    • Hirota, S.1    Ohashi, A.2    Nishida, T.3
  • 20
    • 0037421971 scopus 로고    scopus 로고
    • A human brain tumor-derived PDGFR-alpha deletion mutant is transforming
    • Clarke ID, Dirks PB: A human brain tumor-derived PDGFR-alpha deletion mutant is transforming. Oncogene 2003; 22: 722-733.
    • (2003) Oncogene , vol.22 , pp. 722-733
    • Clarke, I.D.1    Dirks, P.B.2
  • 21
    • 26444481568 scopus 로고    scopus 로고
    • Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas
    • 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: 14344-14349.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 14344-14349
    • Rand, V.1    Huang, J.2    Stockwell, T.3
  • 22
    • 0142119964 scopus 로고    scopus 로고
    • PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRalpha-induced myeloproliferative disease
    • Cools J, Stover EH, Boulton CL et al: PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRalpha-induced myeloproliferative disease. Cancer Cell 2003; 3: 459-469.
    • (2003) Cancer Cell , vol.3 , pp. 459-469
    • Cools, J.1    Stover, E.H.2    Boulton, C.L.3
  • 23
    • 0037069738 scopus 로고    scopus 로고
    • A regulating element essential for PDGFRA transcription is recognized by neural tube defect-associated PRX homeobox transcription factors
    • 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: 254-260.
    • (2004) Biochim Biophys Acta , vol.1588 , pp. 254-260
    • Joosten, P.H.1    Toepoel, M.2    van Oosterhout, D.3    Afink, G.B.4    van Zoelen, E.J.5
  • 24
    • 0347931742 scopus 로고    scopus 로고
    • Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects
    • 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: 127-132.
    • (2004) Mol Genet Metab , vol.81 , pp. 127-132
    • Zhu, H.1    Wicker, N.J.2    Volcik, K.3
  • 25
    • 28444481727 scopus 로고    scopus 로고
    • Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele
    • 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: 194-198.
    • (2005) Am J Med Genet A , vol.139 , pp. 194-198
    • Au, K.S.1    Northrup, H.2    Kirkpatrick, T.J.3
  • 26
    • 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 I5q26.1-15q26.2
    • 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 I5q26.1-15q26.2. Eur J Hum Genet 2006; 14: 999-1008.
    • (2006) Eur J Hum Genet , vol.14 , pp. 999-1008
    • Slavotinek, A.M.1    Moshrefi, A.2    Davis, R.3
  • 27
    • 0029134104 scopus 로고    scopus 로고
    • Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud
    • 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: 768-771.
    • (2005) Nature , vol.376 , pp. 768-771
    • Bladt, F.1    Riethmacher, D.2    Isenmann, S.3    Aguzzi, A.4    Birchmeier, C.5
  • 28
    • 0033514433 scopus 로고    scopus 로고
    • Molecular cloning of FOG2: A modulator of transcription factor GATA-4 in cardiomyocytes
    • Svensson EC, Tufts RLA Polk CE, Leiden JM: Molecular cloning of FOG2: a modulator of transcription factor GATA-4 in cardiomyocytes. Proc Natl Acad Sci USA 1999; 96: 956-961.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 956-961
    • Svensson, E.C.1    Tufts, R.L.A.2    Polk, C.E.3    Leiden, J.M.4
  • 29
    • 33846044214 scopus 로고    scopus 로고
    • Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects
    • 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: 602-614.
    • (2006) Dev Biol , vol.301 , pp. 602-614
    • Jay, P.Y.1    Bielinska, M.2    Erlich, J.M.3
  • 30
    • 0035958875 scopus 로고    scopus 로고
    • 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
    • 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 28029-28036.
    • (2001) J Biol Chem , vol.276 , pp. 28029-28036
    • Huggins, G.S.1    Bacani, C.J.2    Boltax, J.3    Aikawa, R.4    Leiden, J.M.5
  • 31
    • 20244372562 scopus 로고    scopus 로고
    • Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization
    • 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: 877-882.
    • (2005) Am J Hum Genet , vol.76 , pp. 877-882
    • Klaassens, M.1    van Dooren, M.2    Eussen, H.J.3
  • 32
    • 33745632137 scopus 로고    scopus 로고
    • Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis
    • 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: 571-576.
    • (2006) Prenat Diagn , vol.26 , pp. 571-576
    • Prontera, P.1    Buldrini, B.2    Aiello, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.