메뉴 건너뛰기




Volumn 45, Issue 15, 2017, Pages 8773-8784

Regulatory dynamics of 11p13 suggest a role for EHF in modifying CF lung disease severity

Author keywords

[No Author keywords available]

Indexed keywords

APAF 1 INTERACTING PROTEIN; APOPTOTIC PROTEASE ACTIVATING FACTOR 1; E47 LIKE ETS TRANSCRIPTION FACTOR 5; ETS HOMOLOGOUS FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CTCF; UNCLASSIFIED DRUG; CHROMATIN; EHF PROTEIN, HUMAN;

EID: 85032866493     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkx482     Document Type: Article
Times cited : (16)

References (60)
  • 1
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio, T.A. (2010) Genomewide association studies and assessment of the risk of disease.N. Engl. J. Med., 363, 166-176.
    • (2010) N. Engl. J. Med. , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 3
    • 84890231680 scopus 로고    scopus 로고
    • Beyond GWASs: Illuminating the dark road from association to function
    • Edwards, S.L., Beesley, J., French, J.D. and Dunning, A.M. (2013) Beyond GWASs: illuminating the dark road from association to function. Am. J. Hum. Genet., 93, 779-797.
    • (2013) Am. J. Hum. Genet. , vol.93 , pp. 779-797
    • Edwards, S.L.1    Beesley, J.2    French, J.D.3    Dunning, A.M.4
  • 9
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508)
    • Kerem, E., Corey, M., Kerem, B.S., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.C. and Durie, P. (1990) The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (delta F508).N. Engl. J. Med., 323, 1517-1522.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3    Rommens, J.4    Markiewicz, D.5    Levison, H.6    Tsui, L.C.7    Durie, P.8
  • 10
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium (1993) Correlation between genotype and phenotype in patients with cystic fibrosis. N. Engl. J. Med., 329, 1308-1313.
    • (1993) N. Engl. J. Med. , vol.329 , pp. 1308-1313
  • 11
  • 17
    • 4544368511 scopus 로고    scopus 로고
    • Induced inhibition of ischemic/hypoxic injury by APIP, a novel Apaf-1-interacting protein
    • Cho, D.-H., Hong, Y.-M., Lee, H.-J., Woo, H.-N., Pyo, J.-O., Mak, T.W. and Jung, Y.-K. (2004) Induced inhibition of ischemic/hypoxic injury by APIP, a novel Apaf-1-interacting protein. J. Biol. Chem., 279, 39942-39950.
    • (2004) J. Biol. Chem. , vol.279 , pp. 39942-39950
    • Cho, D.-H.1    Hong, Y.-M.2    Lee, H.-J.3    Woo, H.-N.4    Pyo, J.-O.5    Mak, T.W.6    Jung, Y.-K.7
  • 19
    • 44849138714 scopus 로고    scopus 로고
    • Regulation of epithelium-specific Ets-like factors ESE-1 and ESE-3 in airway epithelial cells: Potential roles in airway inflammation
    • Wu, J., Duan, R., Cao, H., Field, D., Newnham, C.M., Koehler, D.R., Zamel, N., Pritchard, M.A., Hertzog, P., Post, M. et al. (2008) Regulation of epithelium-specific Ets-like factors ESE-1 and ESE-3 in airway epithelial cells: potential roles in airway inflammation. Cell Res., 18, 649-663.
    • (2008) Cell Res. , vol.18 , pp. 649-663
    • Wu, J.1    Duan, R.2    Cao, H.3    Field, D.4    Newnham, C.M.5    Koehler, D.R.6    Zamel, N.7    Pritchard, M.A.8    Hertzog, P.9    Post, M.10
  • 21
    • 0032832973 scopus 로고    scopus 로고
    • Characterization of ESE-2, a novel ESE-1-related Ets transcription factor that is restricted to glandular epithelium and differentiated keratinocytes
    • Oettgen, P., Kas, K., Dube, A., Gu, X., Grall, F., Thamrongsak, U., Akbarali, Y., Finger, E., Boltax, J., Endress, G. et al. (1999) Characterization of ESE-2, a novel ESE-1-related Ets transcription factor that is restricted to glandular epithelium and differentiated keratinocytes. J. Biol. Chem., 274, 29439-29452.
    • (1999) J. Biol. Chem. , vol.274 , pp. 29439-29452
    • Oettgen, P.1    Kas, K.2    Dube, A.3    Gu, X.4    Grall, F.5    Thamrongsak, U.6    Akbarali, Y.7    Finger, E.8    Boltax, J.9    Endress, G.10
  • 22
    • 0028307695 scopus 로고
    • Calu-3: A human airway epithelial cell line that shows cAMP-dependent Cl- secretion
    • Shen, B.Q., Finkbeiner, W.E., Wine, J.J., Mrsny, R.J. and Widdicombe, J.H. (1994) Calu-3: a human airway epithelial cell line that shows cAMP-dependent Cl- secretion. Am. J. Physiol., 266, L493-L501.
    • (1994) Am. J. Physiol. , vol.266 , pp. L493-L501
    • Shen, B.Q.1    Finkbeiner, W.E.2    Wine, J.J.3    Mrsny, R.J.4    Widdicombe, J.H.5
  • 24
    • 0017332809 scopus 로고
    • Absence of HeLa cell contamination in 169 cell lines derived from human tumors
    • Fogh, J., Wright, W.C. and Loveless, J.D. (1977) Absence of HeLa cell contamination in 169 cell lines derived from human tumors. J. Natl. Cancer Inst., 58, 209-214.
    • (1977) J. Natl. Cancer Inst. , vol.58 , pp. 209-214
    • Fogh, J.1    Wright, W.C.2    Loveless, J.D.3
  • 26
    • 0016640079 scopus 로고
    • Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome
    • Lozzio, C.B. and Lozzio, B.B. (1975) Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome. Blood, 45, 321-334.
    • (1975) Blood , vol.45 , pp. 321-334
    • Lozzio, C.B.1    Lozzio, B.B.2
  • 27
    • 0036161983 scopus 로고    scopus 로고
    • Evaluation of potential regulatory elements identified as DNase i hypersensitive sites in the CFTR gene
    • Phylactides, M., Rowntree, R., Nuthall, H., Ussery, D., Wheeler, A. and Harris, A. (2002) Evaluation of potential regulatory elements identified as DNase I hypersensitive sites in the CFTR gene. Eur. J. Biochem., 269, 553-559.
    • (2002) Eur. J. Biochem. , vol.269 , pp. 553-559
    • Phylactides, M.1    Rowntree, R.2    Nuthall, H.3    Ussery, D.4    Wheeler, A.5    Harris, A.6
  • 29
    • 84859856764 scopus 로고    scopus 로고
    • A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function
    • Bischof, J.M., Ott, C.J., Leir, S.-H., Gosalia, N., Song, L., London, D., Furey, T.S., Cotton, C.U., Crawford, G.E. and Harris, A. (2012) A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function. Thorax, 67, 385-391.
    • (2012) Thorax , vol.67 , pp. 385-391
    • Bischof, J.M.1    Ott, C.J.2    Leir, S.-H.3    Gosalia, N.4    Song, L.5    London, D.6    Furey, T.S.7    Cotton, C.U.8    Crawford, G.E.9    Harris, A.10
  • 33
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature, 489, 57-74.
    • (2012) Nature , vol.489 , pp. 57-74
  • 38
    • 84923374968 scopus 로고    scopus 로고
    • Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus
    • Gosalia, N., Neems, D., Kerschner, J.L., Kosak, S.T. and Harris, A. (2014) Architectural proteins CTCF and cohesin have distinct roles in modulating the higher order structure and expression of the CFTR locus. Nucleic Acids Res., 42, 9612-9622.
    • (2014) Nucleic Acids Res. , vol.42 , pp. 9612-9622
    • Gosalia, N.1    Neems, D.2    Kerschner, J.L.3    Kosak, S.T.4    Harris, A.5
  • 39
    • 84960334782 scopus 로고    scopus 로고
    • The 3D genome as moderator of chromosomal communication
    • Dekker, J. and Mirny, L. (2016) The 3D genome as moderator of chromosomal communication. Cell, 164, 1110-1121.
    • (2016) Cell , vol.164 , pp. 1110-1121
    • Dekker, J.1    Mirny, L.2
  • 41
    • 84861095603 scopus 로고    scopus 로고
    • Topological domains in mammalian genomes identified by analysis of chromatin interactions
    • Dixon, J.R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y., Hu, M., Liu, J.S. and Ren, B. (2012) Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature, 485, 376-380.
    • (2012) Nature , vol.485 , pp. 376-380
    • Dixon, J.R.1    Selvaraj, S.2    Yue, F.3    Kim, A.4    Li, Y.5    Shen, Y.6    Hu, M.7    Liu, J.S.8    Ren, B.9
  • 45
    • 85009872837 scopus 로고    scopus 로고
    • CTCF-mediated topological boundaries during development foster appropriate gene regulation
    • Narendra, V., Bulajić, M., Dekker, J., Mazzoni, E.O. and Reinberg, D. (2016) CTCF-mediated topological boundaries during development foster appropriate gene regulation. Genes Dev., 30, 2657-2662.
    • (2016) Genes Dev. , vol.30 , pp. 2657-2662
    • Narendra, V.1    Bulajić, M.2    Dekker, J.3    Mazzoni, E.O.4    Reinberg, D.5
  • 47
    • 84939246295 scopus 로고    scopus 로고
    • CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
    • Guo, Y., Xu, Q., Canzio, D., Shou, J., Li, J., Gorkin, D.U., Jung, I., Wu, H., Zhai, Y., Tang, Y. et al. (2015) CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function. Cell, 162, 900-910.
    • (2015) Cell , vol.162 , pp. 900-910
    • Guo, Y.1    Xu, Q.2    Canzio, D.3    Shou, J.4    Li, J.5    Gorkin, D.U.6    Jung, I.7    Wu, H.8    Zhai, Y.9    Tang, Y.10
  • 48
    • 84939246295 scopus 로고    scopus 로고
    • CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function
    • Guo, Y., Xu, Q., Canzio, D., Shou, J., Li, J., Gorkin, D.U., Jung, I., Wu, H., Zhai, Y., Tang, Y. et al. (2015) CRISPR inversion of CTCF sites alters genome topology and enhancer/promoter function. Cell, 162, 900-910.
    • (2015) Cell , vol.162 , pp. 900-910
    • Guo, Y.1    Xu, Q.2    Canzio, D.3    Shou, J.4    Li, J.5    Gorkin, D.U.6    Jung, I.7    Wu, H.8    Zhai, Y.9    Tang, Y.10
  • 49
    • 85006305723 scopus 로고    scopus 로고
    • Insulator function and topological domain border strength scale with architectural protein occupancy
    • Van Bortle, K., Nichols, M.H., Li, L., Ong, C.-T., Takenaka, N., Qin, Z.S. and Corces, V.G. (2014) Insulator function and topological domain border strength scale with architectural protein occupancy. Genome Biol., 15, R82.
    • (2014) Genome Biol. , vol.15 , pp. R82
    • Van Bortle, K.1    Nichols, M.H.2    Li, L.3    Ong, C.-T.4    Takenaka, N.5    Qin, Z.S.6    Corces, V.G.7
  • 52
    • 77956624118 scopus 로고    scopus 로고
    • The NF-kappaB signaling in cystic fibrosis lung disease: Pathophysiology and therapeutic potential
    • Bodas, M. and Vij, N. (2010) The NF-kappaB signaling in cystic fibrosis lung disease: pathophysiology and therapeutic potential. Discov. Med., 9, 346-356.
    • (2010) Discov. Med. , vol.9 , pp. 346-356
    • Bodas, M.1    Vij, N.2
  • 53
    • 0036005866 scopus 로고    scopus 로고
    • DeltaF508-CFTR causes constitutive NF-kappaB activation through an ER-overload response in cystic fibrosis lungs
    • Knorre, A., Wagner, M., Schaefer, H.-E., Colledge, W.H. and Pahl, H.L. (2002) DeltaF508-CFTR causes constitutive NF-kappaB activation through an ER-overload response in cystic fibrosis lungs. Biol. Chem., 383, 271-282.
    • (2002) Biol. Chem. , vol.383 , pp. 271-282
    • Knorre, A.1    Wagner, M.2    Schaefer, H.-E.3    Colledge, W.H.4    Pahl, H.L.5
  • 54
    • 84898772123 scopus 로고    scopus 로고
    • The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
    • Stanke, F., van Barneveld, A., Hedtfeld, S., Wölfl, S., Becker, T. and Tümmler, B. (2014) The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells. Eur. J. Hum. Genet., 22, 660-666.
    • (2014) Eur. J. Hum. Genet. , vol.22 , pp. 660-666
    • Stanke, F.1    Van Barneveld, A.2    Hedtfeld, S.3    Wölfl, S.4    Becker, T.5    Tümmler, B.6
  • 58
    • 84954288250 scopus 로고    scopus 로고
    • Invariant TAD boundaries constrain cell-type-specific looping interactions between promoters and distal elements around the CFTR locus
    • Smith, E.M., Lajoie, B.R., Jain, G. and Dekker, J. (2016) Invariant TAD boundaries constrain cell-type-specific looping interactions between promoters and distal elements around the CFTR locus. Am. J. Hum. Genet., 98, 185-201.
    • (2016) Am. J. Hum. Genet. , vol.98 , pp. 185-201
    • Smith, E.M.1    Lajoie, B.R.2    Jain, G.3    Dekker, J.4
  • 59
    • 33748259774 scopus 로고    scopus 로고
    • CTCF mediates long-range chromatin looping and local histone modification in the beta-globin locus
    • Splinter, E., Heath, H., Kooren, J., Palstra, R.-J., Klous, P., Grosveld, F., Galjart, N. and de Laat, W. (2006) CTCF mediates long-range chromatin looping and local histone modification in the beta-globin locus. Genes Dev., 20, 2349-2354.
    • (2006) Genes Dev. , vol.20 , pp. 2349-2354
    • Splinter, E.1    Heath, H.2    Kooren, J.3    Palstra, R.-J.4    Klous, P.5    Grosveld, F.6    Galjart, N.7    De Laat, W.8
  • 60
    • 77649261872 scopus 로고    scopus 로고
    • Cell type specificity of chromatin organization mediated by CTCF and cohesin
    • Hou, C., Dale, R. and Dean, A. (2010) Cell type specificity of chromatin organization mediated by CTCF and cohesin. Proc. Natl. Acad. Sci. U.S.A., 107, 3651-3656.
    • (2010) Proc. Natl. Acad. Sci. U.S.A. , vol.107 , pp. 3651-3656
    • Hou, C.1    Dale, R.2    Dean, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.