메뉴 건너뛰기




Volumn 115, Issue 1, 2014, Pages 23-31

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region

Author keywords

22q11 deletion syndrome; developmental biology; genetics; heart septal defects, ventricular; HIC2 protein, human; Mesp1 protein, mouse; models, animal

Indexed keywords

TRANSCRIPTION FACTOR;

EID: 84903169684     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.115.303300     Document Type: Article
Times cited : (25)

References (44)
  • 1
    • 78651245300 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    • McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90:1-18.
    • (2011) Medicine (Baltimore) , vol.90 , pp. 1-18
    • McDonald-Mcginn, D.M.1    Sullivan, K.E.2
  • 2
    • 77952328830 scopus 로고    scopus 로고
    • Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
    • Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol. 2010;105:1617-1624.
    • (2010) Am J Cardiol. , vol.105 , pp. 1617-1624
    • Momma, K.1
  • 4
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64:1076-1086.
    • (1999) Am J Hum Genet. , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 11
    • 17744395906 scopus 로고    scopus 로고
    • Tbx1 is responsible for cardiovascular defects in velo-cardio-facial/ digeorge syndrome
    • Merscher S, Funke B, Epstein JA, et al. Tbx1 is responsible for cardiovascular defects in velo-cardio-facial/digeorge syndrome. Cell. 2001;104:619-629.
    • (2001) Cell. , vol.104 , pp. 619-629
    • Merscher, S.1    Funke, B.2    Epstein, J.A.3
  • 12
    • 0035098557 scopus 로고    scopus 로고
    • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
    • Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27:286-291.
    • (2001) Nat Genet. , vol.27 , pp. 286-291
    • Jerome, L.A.1    Papaioannou, V.E.2
  • 14
    • 0035098436 scopus 로고    scopus 로고
    • Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
    • Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet. 2001;27:293-298.
    • (2001) Nat Genet. , vol.27 , pp. 293-298
    • Guris, D.L.1    Fantes, J.2    Tara, D.3    Druker, B.J.4    Imamoto, A.5
  • 15
    • 29744440528 scopus 로고    scopus 로고
    • Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes
    • Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A. Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell. 2006;10:71-80.
    • (2006) Dev Cell. , vol.10 , pp. 71-80
    • Moon, A.M.1    Guris, D.L.2    Seo, J.H.3    Li, L.4    Hammond, J.5    Talbot, A.6    Imamoto, A.7
  • 16
    • 29744455342 scopus 로고    scopus 로고
    • Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome
    • Guris DL, Duester G, Papaioannou VE, Imamoto A. Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell. 2006;10:81-92.
    • (2006) Dev Cell. , vol.10 , pp. 81-92
    • Guris, D.L.1    Duester, G.2    Papaioannou, V.E.3    Imamoto, A.4
  • 21
    • 0035929261 scopus 로고    scopus 로고
    • Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1
    • Deltour S, Pinte S, Guérardel C, Leprince D. Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1. Biochem Biophys Res Commun. 2001;287:427-434.
    • (2001) Biochem Biophys Res Commun. , vol.287 , pp. 427-434
    • Deltour, S.1    Pinte, S.2    Guérardel, C.3    Leprince, D.4
  • 23
    • 0034639710 scopus 로고    scopus 로고
    • Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome
    • Carter MG, Johns MA, Zeng X, Zhou L, Zink MC, Mankowski JL, Donovan DM, Baylin SB. Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. Hum Mol Genet. 2000;9:413-419.
    • (2000) Hum Mol Genet. , vol.9 , pp. 413-419
    • Carter, M.G.1    Johns, M.A.2    Zeng, X.3    Zhou, L.4    Zink, M.C.5    Mankowski, J.L.6    Donovan, D.M.7    Baylin, S.B.8
  • 24
    • 0345561556 scopus 로고    scopus 로고
    • Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome
    • Grimm C, Spörle R, Schmid TE, Adler ID, Adamski J, Schughart K, Graw J. Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. Hum Mol Genet. 1999;8:697-710.
    • (1999) Hum Mol Genet. , vol.8 , pp. 697-710
    • Grimm, C.1    Spörle, R.2    Schmid, T.E.3    Adler, I.D.4    Adamski, J.5    Schughart, K.6    Graw, J.7
  • 25
    • 34248178543 scopus 로고    scopus 로고
    • Resolution improvement in emission optical projection tomography
    • Walls JR, Sled JG, Sharpe J, Henkelman RM. Resolution improvement in emission optical projection tomography. Phys Med Biol. 2007;52:2775-2790.
    • (2007) Phys Med Biol. , vol.52 , pp. 2775-2790
    • Walls, J.R.1    Sled, J.G.2    Sharpe, J.3    Henkelman, R.M.4
  • 26
    • 0037330784 scopus 로고    scopus 로고
    • Rapid identification and 3D reconstruction of complex cardiac malformations in transgenic mouse embryos using fast gradient echo sequence magnetic resonance imaging
    • Schneider JE, Bamforth SD, Farthing CR, Clarke K, Neubauer S, Bhattacharya S. Rapid identification and 3D reconstruction of complex cardiac malformations in transgenic mouse embryos using fast gradient echo sequence magnetic resonance imaging. J Mol Cell Cardiol. 2003;35:217-222.
    • (2003) J Mol Cell Cardiol. , vol.35 , pp. 217-222
    • Schneider, J.E.1    Bamforth, S.D.2    Farthing, C.R.3    Clarke, K.4    Neubauer, S.5    Bhattacharya, S.6
  • 27
    • 47349088397 scopus 로고    scopus 로고
    • A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?
    • Xu J, Fan YS, Siu VM. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?. Am J Med. Genet A. 2008;146A:1886-1889.
    • (2008) Am J Med. Genet A. , vol.146 A , pp. 1886-1889
    • Xu, J.1    Fan, Y.S.2    Siu, V.M.3
  • 28
    • 79959534034 scopus 로고    scopus 로고
    • Phenotypic variability of distal 22q11.2 copy number abnormalities
    • Tan TY, Collins A, James PA, et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A. 2011;155A:1623-1633.
    • (2011) Am J Med Genet A. , vol.155 A , pp. 1623-1633
    • Tan, T.Y.1    Collins, A.2    James, P.A.3
  • 29
    • 56649088234 scopus 로고    scopus 로고
    • 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
    • Rødningen OK, Prescott T, Eriksson AS, Røsby O. 1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype. Eur J Med Genet. 2008;51:646-650.
    • (2008) Eur J Med Genet. , vol.51 , pp. 646-650
    • Rødningen, O.K.1    Prescott, T.2    Eriksson, A.S.3    Røsby, O.4
  • 30
    • 0346503889 scopus 로고    scopus 로고
    • Talking about a revolution: The impact of sitespecific recombinases on genetic analyses in mice
    • Branda CS, Dymecki SM. Talking about a revolution: the impact of sitespecific recombinases on genetic analyses in mice. Dev Cell. 2004;6:7-28.
    • (2004) Dev Cell. , vol.6 , pp. 7-28
    • Branda, C.S.1    Dymecki, S.M.2
  • 32
    • 0032481124 scopus 로고    scopus 로고
    • Modification of gene activity in mouse embryos in utero by a tamoxifeninducible form of Cre recombinase
    • Danielian PS, Muccino D, Rowitch DH, Michael SK, McMahon AP. Modification of gene activity in mouse embryos in utero by a tamoxifeninducible form of Cre recombinase. Curr Biol. 1998;8:1323-1326.
    • (1998) Curr Biol. , vol.8 , pp. 1323-1326
    • Danielian, P.S.1    Muccino, D.2    Rowitch, D.H.3    Michael, S.K.4    McMahon, A.P.5
  • 33
    • 0035675209 scopus 로고    scopus 로고
    • Embryonic expression of an Nkx2-5/Cre gene using ROSA26 reporter mice
    • Moses KA, DeMayo F, Braun RM, Reecy JL, Schwartz RJ. Embryonic expression of an Nkx2-5/Cre gene using ROSA26 reporter mice. Genesis. 2001;31:176-180.
    • (2001) Genesis. , vol.31 , pp. 176-180
    • Moses, K.A.1    Demayo, F.2    Braun, R.M.3    Reecy, J.L.4    Schwartz, R.J.5
  • 34
    • 84890794352 scopus 로고    scopus 로고
    • Nkx2-5 lineage tracing visualizes the distribution of second heart field-derived aortic smooth muscle
    • Harmon AW, Nakano A. Nkx2-5 lineage tracing visualizes the distribution of second heart field-derived aortic smooth muscle. Genesis. 2013;51:862-869.
    • (2013) Genesis. , vol.51 , pp. 862-869
    • Harmon, A.W.1    Nakano, A.2
  • 35
    • 0032841613 scopus 로고    scopus 로고
    • MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube
    • Saga Y, Miyagawa-Tomita S, Takagi A, Kitajima S, Miyazaki Ji, Inoue T. MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube. Development. 1999;126:3437-3447.
    • (1999) Development , vol.126 , pp. 3437-3447
    • Saga, Y.1    Miyagawa-Tomita, S.2    Takagi, A.3    Kitajima, S.4    Ji, M.5    Inoue, T.6
  • 36
    • 27744507847 scopus 로고    scopus 로고
    • The right ventricle, outflow tract, and ventricular septum comprise a restricted expression domain within the secondary/anterior heart field
    • Verzi MP, McCulley DJ, De Val S, Dodou E, Black BL. The right ventricle, outflow tract, and ventricular septum comprise a restricted expression domain within the secondary/anterior heart field. Dev Biol. 2005;287:134-145.
    • (2005) Dev Biol. , vol.287 , pp. 134-145
    • Verzi, M.P.1    McCulley, D.J.2    De Val, S.3    Dodou, E.4    Black, B.L.5
  • 39
    • 0036274143 scopus 로고    scopus 로고
    • The human candidate tumor suppressor gene HIC1 recruits CtBP through a degenerate GLDLSKK motif
    • Deltour S, Pinte S, Guerardel C, Wasylyk B, Leprince D. The human candidate tumor suppressor gene HIC1 recruits CtBP through a degenerate GLDLSKK motif. Mol Cell Biol. 2002;22:4890-4901.
    • (2002) Mol Cell Biol. , vol.22 , pp. 4890-4901
    • Deltour, S.1    Pinte, S.2    Guerardel, C.3    Wasylyk, B.4    Leprince, D.5
  • 44
    • 84867839924 scopus 로고    scopus 로고
    • Overt cleft palate phenotype and tbx1 genotype correlations in velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients
    • International Chromosome 22q Consortium
    • Herman SB, Guo T, McGinn DM; International Chromosome 22q Consortium. Overt cleft palate phenotype and tbx1 genotype correlations in velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients. Am J Med Genet A. 2012;158A:2781-2787.
    • (2012) Am J Med Genet A. , vol.158 A , pp. 2781-2787
    • Herman, S.B.1    Guo, T.2    McGinn, D.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.