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Volumn 140, Issue 2, 2011, Pages 572-582.e2

Variants in RET associated with hirschsprung's disease affect binding of transcription factors and gene expression

Author keywords

DNA Binding Proteins; Down Syndrome; Genetics; HSCR

Indexed keywords

DNA BINDING PROTEIN; ENH1 T PROTEIN; ENH2 A PROTEIN; ENH2 C PROTEIN; LUCIFERASE; PROTEIN RET; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ARNT2; TRANSCRIPTION FACTOR NXF; TRANSCRIPTION FACTOR SIM2; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

EID: 79251552835     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.10.044     Document Type: Article
Times cited : (37)

References (24)
  • 1
    • 38349112858 scopus 로고    scopus 로고
    • Hirsch sprung disease, associated syndromes and genetics: A review
    • J. Amiel, E. Sproat-Emison, and M. Garcia-Barcelo Hirsch sprung disease, associated syndromes and genetics: a review J Med Genet 45 2008 1 14
    • (2008) J Med Genet , vol.45 , pp. 1-14
    • Amiel, J.1    Sproat-Emison, E.2    Garcia-Barcelo, M.3
  • 2
    • 0034602646 scopus 로고    scopus 로고
    • A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    • S. Bolk, A. Pelet, and R.M. Hofstra A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus Proc Natl Acad Sci U S A 97 2000 268 273
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 268-273
    • Bolk, S.1    Pelet, A.2    Hofstra, R.M.3
  • 3
    • 18544365991 scopus 로고    scopus 로고
    • A segregation at three loci explains familial and population risk in Hirschsprung disease
    • S.B. Gabriel, R. Salomon, and A. Pelet A segregation at three loci explains familial and population risk in Hirschsprung disease Nat Genet 31 2002 89 93
    • (2002) Nat Genet , vol.31 , pp. 89-93
    • Gabriel, S.B.1    Salomon, R.2    Pelet, A.3
  • 4
    • 0027219581 scopus 로고
    • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
    • M. Angrist, E. Kauffman, and S.A. Slaugenhaupt A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 Nat Genet 4 1993 351 356
    • (1993) Nat Genet , vol.4 , pp. 351-356
    • Angrist, M.1    Kauffman, E.2    Slaugenhaupt, S.A.3
  • 5
    • 2442750413 scopus 로고    scopus 로고
    • Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
    • S. Borrego, M.E. Saez, and A. Ruiz Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression J Med Genet 36 1999 771 774
    • (1999) J Med Genet , vol.36 , pp. 771-774
    • Borrego, S.1    Saez, M.E.2    Ruiz, A.3
  • 6
    • 0033854456 scopus 로고    scopus 로고
    • RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
    • S. Borrego, A. Ruiz, and M.E. Saez RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease J Med Genet 37 2000 572 578
    • (2000) J Med Genet , vol.37 , pp. 572-578
    • Borrego, S.1    Ruiz, A.2    Saez, M.E.3
  • 7
    • 0037217482 scopus 로고    scopus 로고
    • A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma
    • S. Borrego, F.A. Wright, and R.M. Fernandez A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma Am J Hum Genet 72 2003 88 100
    • (2003) Am J Hum Genet , vol.72 , pp. 88-100
    • Borrego, S.1    Wright, F.A.2    Fernandez, R.M.3
  • 8
    • 1542438600 scopus 로고    scopus 로고
    • Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
    • M.M. Garcia-Barcelo, M.H. Sham, and V.C. Lui Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype J Med Genet 40 2003 e122
    • (2003) J Med Genet , vol.40 , pp. 122
    • Garcia-Barcelo, M.M.1    Sham, M.H.2    Lui, V.C.3
  • 9
    • 0346121524 scopus 로고    scopus 로고
    • Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
    • G. Fitze, H. Appelt, and I.R. Konig Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR) Hum Mol Genet 12 2003 3207 3214
    • (2003) Hum Mol Genet , vol.12 , pp. 3207-3214
    • Fitze, G.1    Appelt, H.2    Konig, I.R.3
  • 10
    • 0042329921 scopus 로고    scopus 로고
    • Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
    • M. Sancandi, P. Griseri, and B. Pesce Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease J Med Genet 40 2003 714 718
    • (2003) J Med Genet , vol.40 , pp. 714-718
    • Sancandi, M.1    Griseri, P.2    Pesce, B.3
  • 11
    • 33644815947 scopus 로고    scopus 로고
    • Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles
    • F. Lantieri, P. Griseri, and F. Puppo Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles Ann Hum Genet 70 2006 12 26
    • (2006) Ann Hum Genet , vol.70 , pp. 12-26
    • Lantieri, F.1    Griseri, P.2    Puppo, F.3
  • 12
    • 19944430369 scopus 로고    scopus 로고
    • TTF-1 and RET promoter SNPs: Regulation of RET transcription in Hirschsprung's disease
    • M. Garcia-Barcelo, R.W. Ganster, and V.C. Lui TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease Hum Mol Genet 14 2005 191 204
    • (2005) Hum Mol Genet , vol.14 , pp. 191-204
    • Garcia-Barcelo, M.1    Ganster, R.W.2    Lui, V.C.3
  • 13
    • 20244382845 scopus 로고    scopus 로고
    • Identifying candidate Hirschsprung disease-associated RET variants
    • G.M. Burzynski, I.M. Nolte, and A. Bronda Identifying candidate Hirschsprung disease-associated RET variants Am J Hum Genet 76 2005 850 858
    • (2005) Am J Hum Genet , vol.76 , pp. 850-858
    • Burzynski, G.M.1    Nolte, I.M.2    Bronda, A.3
  • 14
    • 17244383525 scopus 로고    scopus 로고
    • A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
    • E.S. Emison, A.S. McCallion, and C.S. Kashuk A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk Nature 434 2005 857 863
    • (2005) Nature , vol.434 , pp. 857-863
    • Emison, E.S.1    McCallion, A.S.2    Kashuk, C.S.3
  • 15
    • 29644443837 scopus 로고    scopus 로고
    • Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
    • A. Pelet, L. de Pontual, and M. Clement-Ziza Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease J Med Genet 42 2005 e18
    • (2005) J Med Genet , vol.42 , pp. 18
    • Pelet, A.1    De Pontual, L.2    Clement-Ziza, M.3
  • 16
    • 29644434290 scopus 로고    scopus 로고
    • Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer
    • E.A. Grice, E.S. Rochelle, and E.D. Green Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer Hum Mol Genet 14 2005 3837 3845
    • (2005) Hum Mol Genet , vol.14 , pp. 3837-3845
    • Grice, E.A.1    Rochelle, E.S.2    Green, E.D.3
  • 17
    • 33645833857 scopus 로고    scopus 로고
    • Conservation of RET regulatory function from human to zebrafish without sequence similarity
    • S. Fisher, E.A. Grice, and R.M. Vinton Conservation of RET regulatory function from human to zebrafish without sequence similarity Science 312 2006 276 279
    • (2006) Science , vol.312 , pp. 276-279
    • Fisher, S.1    Grice, E.A.2    Vinton, R.M.3
  • 18
    • 77955081986 scopus 로고    scopus 로고
    • Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
    • E.S. Emison, M. Garcia-Barcelo, and E.A. Grice Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability Am J Hum Genet 87 2010 60 74
    • (2010) Am J Hum Genet , vol.87 , pp. 60-74
    • Emison, E.S.1    Garcia-Barcelo, M.2    Grice, E.A.3
  • 19
    • 0347986677 scopus 로고    scopus 로고
    • Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression
    • N. Ooe, K. Saito, and N. Mikami Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression Mol Cell Biol 24 2004 608 616
    • (2004) Mol Cell Biol , vol.24 , pp. 608-616
    • Ooe, N.1    Saito, K.2    Mikami, N.3
  • 20
    • 0028172292 scopus 로고
    • Control of CNS midline transcription by asymmetric E-box-like elements: Similarity to xenobiotic responsive regulation
    • K.A. Wharton Jr, R.G. Franks, and Y. Kasai Control of CNS midline transcription by asymmetric E-box-like elements: similarity to xenobiotic responsive regulation Development 120 1994 3563 3569
    • (1994) Development , vol.120 , pp. 3563-3569
    • Wharton Jr., K.A.1    Franks, R.G.2    Kasai, Y.3
  • 21
    • 33749994232 scopus 로고    scopus 로고
    • Effects of overexpression of Sim2 on spatial memory and expression of synapsin i in rat hippocampus
    • X. Meng, B. Peng, and J. Shi Effects of overexpression of Sim2 on spatial memory and expression of synapsin I in rat hippocampus Cell Biol Int 30 2006 841 847
    • (2006) Cell Biol Int , vol.30 , pp. 841-847
    • Meng, X.1    Peng, B.2    Shi, J.3
  • 22
    • 0032837516 scopus 로고    scopus 로고
    • Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: An animal model of Down's syndrome
    • M. Ema, S. Ikegami, and T. Hosoya Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome Hum Mol Genet 8 1999 1409 1415
    • (1999) Hum Mol Genet , vol.8 , pp. 1409-1415
    • Ema, M.1    Ikegami, S.2    Hosoya, T.3
  • 23
    • 22144498800 scopus 로고    scopus 로고
    • Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome
    • M. Rachidi, C. Lopes, and G. Charron Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome Int J Dev Neurosci 23 2005 475 484
    • (2005) Int J Dev Neurosci , vol.23 , pp. 475-484
    • Rachidi, M.1    Lopes, C.2    Charron, G.3
  • 24
    • 0037166050 scopus 로고    scopus 로고
    • Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome
    • K.S. Shim, and G. Lubec Drebrin, a dendritic spine protein, is manifold decreased in brains of patients with Alzheimer's disease and Down syndrome Neurosci Lett 324 2002 209 212
    • (2002) Neurosci Lett , vol.324 , pp. 209-212
    • Shim, K.S.1    Lubec, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.