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Volumn 39, Issue 5, 1998, Pages 1021-1024

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi

Author keywords

FH; LDL receptor; Promoter

Indexed keywords

LUCIFERASE;

EID: 15144341366     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle. editors. McGraw-Hill, New York
    • Goldstein, J. L., H. H. Hobbs, and M. S. Brown. 1995. Familial hypercholesterolemia. In The Metabolic Basis of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle. editors. McGraw-Hill, New York. 1981-2030.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 1981-2030
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 2
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs, H. H., M. S. Brown, and J. L. Goldstein. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat. 1: 445-466.
    • (1992) Hum. Mutat. , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 3
    • 0023227574 scopus 로고
    • Three direct repeats and a TAT-like sequence are required for regulated expression of the human low density lipoprotein receptor gene
    • Südhof, T. C., D. R. van der Westhuyzen, J. L. Goldstein, M. S. Brown, and D. W. Russell. 1987. Three direct repeats and a TAT-like sequence are required for regulated expression of the human low density lipoprotein receptor gene. J. Biol. Chem. 262: 10773-10779.
    • (1987) J. Biol. Chem. , vol.262 , pp. 10773-10779
    • Südhof, T.C.1    Van Der Westhuyzen, D.R.2    Goldstein, J.L.3    Brown, M.S.4    Russell, D.W.5
  • 4
    • 0023867357 scopus 로고
    • Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1
    • Dawson, P. A., S. L. Hofmann, D. R. van der Westhuyzen, T. C. Südhof, M. S. Brown, and J. L. Goldstein. 1988. Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1. J. Biol. Chem. 263: 3372-3379.
    • (1988) J. Biol. Chem. , vol.263 , pp. 3372-3379
    • Dawson, P.A.1    Hofmann, S.L.2    Van Der Westhuyzen, D.R.3    Südhof, T.C.4    Brown, M.S.5    Goldstein, J.L.6
  • 5
    • 0027490174 scopus 로고
    • SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene
    • Yokoyama, C., X. Wang, M. R. Briggs, A. Admon, J. Wu, X. Hua, J. L. Goldstein, and M. S. Brown. 1993. SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Cell. 75: 187-197.
    • (1993) Cell. , vol.75 , pp. 187-197
    • Yokoyama, C.1    Wang, X.2    Briggs, M.R.3    Admon, A.4    Wu, J.5    Hua, X.6    Goldstein, J.L.7    Brown, M.S.8
  • 6
    • 0028225462 scopus 로고
    • SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis
    • Wang, X., R. Sato, M. S. Brown, X. Hua, and J. L. Goldstein. 1994. SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis. Cell. 77: 53-62.
    • (1994) Cell. , vol.77 , pp. 53-62
    • Wang, X.1    Sato, R.2    Brown, M.S.3    Hua, X.4    Goldstein, J.L.5
  • 7
    • 0027948983 scopus 로고
    • A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia
    • Koivisto, U. M., J. J. Palvimo, O. A. Janne, and K. Kontula. 1994. A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia. Proc. Natl. Acad. Sci. USA. 91: 10526-10530.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 10526-10530
    • Koivisto, U.M.1    Palvimo, J.J.2    Janne, O.A.3    Kontula, K.4
  • 8
    • 0028828278 scopus 로고
    • A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)
    • Sun, X. M., C. Neuwirth, D. P. Wade, B. L. Knight, and A. K. Soutar. 1995. A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH). Hum. Mol. Genet. 4: 2125-2129.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2125-2129
    • Sun, X.M.1    Neuwirth, C.2    Wade, D.P.3    Knight, B.L.4    Soutar, A.K.5
  • 9
    • 0030070316 scopus 로고    scopus 로고
    • An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
    • Jensen, L. G., H. K. Jensen, H. Nissen, K. Kristiansen, O. Faergeman, L. Bolund, and N. Gregersen. 1996. An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. Hum. Mutat. 7: 82-84.
    • (1996) Hum. Mutat. , vol.7 , pp. 82-84
    • Jensen, L.G.1    Jensen, H.K.2    Nissen, H.3    Kristiansen, K.4    Faergeman, O.5    Bolund, L.6    Gregersen, N.7
  • 10
    • 0019414484 scopus 로고
    • Primary familial hypercholesterolaemia in a South African black. A case report. 1981
    • Van Wingerden, J. J. 1981. Primary familial hypercholesterolaemia in a South African black. A case report. 1981. S. Afr. Med. J. 60: 554-556.
    • (1981) S. Afr. Med. J. , vol.60 , pp. 554-556
    • Van Wingerden, J.J.1
  • 11
    • 0022130788 scopus 로고
    • Two distinct transcription factors bind to the HSV thymidine kinase promoter in vitro
    • Jones, K. A., K. R. Yamamoto, and R. Tjian. 1985. Two distinct transcription factors bind to the HSV thymidine kinase promoter in vitro. Cell. 42: 559-572.
    • (1985) Cell. , vol.42 , pp. 559-572
    • Jones, K.A.1    Yamamoto, K.R.2    Tjian, R.3
  • 12
    • 0021951256 scopus 로고
    • Low density lipoprotein receptor deficiency resulting in familial hypercholesterolaemia in a black man
    • Coetzee, G. A., J. J. van Wingerden, and D. R. van der Westhuyzen. 1985. Low density lipoprotein receptor deficiency resulting in familial hypercholesterolaemia in a black man. S. Afr. Med. J. 67: 259-262.
    • (1985) S. Afr. Med. J. , vol.67 , pp. 259-262
    • Coetzee, G.A.1    Van Wingerden, J.J.2    Van Der Westhuyzen, D.R.3
  • 13
    • 0028884426 scopus 로고
    • Transcriptional modulators affect in vivo protein binding to the LDL receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase promoters
    • Lloyd, D. B., and J. F. Thompson. 1995. Transcriptional modulators affect in vivo protein binding to the LDL receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase promoters. J. Biol. Chem. 270: 25812-25818.
    • (1995) J. Biol. Chem. , vol.270 , pp. 25812-25818
    • Lloyd, D.B.1    Thompson, J.F.2
  • 14
    • 0028878637 scopus 로고
    • Protein binding to the LDLR promoter in vivo is differentially affected by gene activation in primary human cells
    • Ellsworth, J. L., D. B. Lloyd, A. J. Carlstrom, and J. F. Thompson. 1995. Protein binding to the LDLR promoter in vivo is differentially affected by gene activation in primary human cells. J. Lipid. Res. 36: 383-393.
    • (1995) J. Lipid. Res. , vol.36 , pp. 383-393
    • Ellsworth, J.L.1    Lloyd, D.B.2    Carlstrom, A.J.3    Thompson, J.F.4
  • 15
    • 0028799622 scopus 로고
    • Cooperation by sterol regulatory element-binding protein and Sp1 in sterol regulation of low density lipoprotein receptor gene
    • Sanchez, H. B., L. Yieh, and T. F. Osborne. 1995. Cooperation by sterol regulatory element-binding protein and Sp1 in sterol regulation of low density lipoprotein receptor gene. J. Biol. Chem. 270: 1161-1169.
    • (1995) J. Biol. Chem. , vol.270 , pp. 1161-1169
    • Sanchez, H.B.1    Yieh, L.2    Osborne, T.F.3
  • 16
    • 0029041047 scopus 로고
    • Domains of transcription factor Sp1 required for synergistic activation with sterol regulatory element binding protein 1 of LDLR promoter
    • Yieh, L., H. B. Sanchez, and T. F. Osborne. 1995. Domains of transcription factor Sp1 required for synergistic activation with sterol regulatory element binding protein 1 of LDLR promoter. Proc. Natl. Acad. Sci. USA. 92: 6102-6106.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 6102-6106
    • Yieh, L.1    Sanchez, H.B.2    Osborne, T.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.