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Volumn 64, Issue 5, 1999, Pages 1378-1387

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

(21)  Varret, Mathilde a   Rabès, Jean Pierre a,c   Saint Jore, Bruno a   Cenarro, Ana f   Marinoni, Jean Christophe a   Civeira, Fernando f   Devillers, Martine a   Krempf, Michel d   Coulon, Monique a   Thiart, Rochelle g   Kotze, Maritha J g   Schmidt, Helena h   Buzzi, Jean Claude b   Kostner, Gert M h   Bertolini, Stephano j   Pocovi, Miguel f   Rosa, Alberto i   Farnier, Michel e   Martinez, Maria b   Junien, Claudine a,c   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

EID: 20244364794     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302370     Document Type: Article
Times cited : (152)

References (36)
  • 1
    • 0002233688 scopus 로고
    • Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Varones (I)
    • Civeira F, Pocovi M, Moreda A, Alamillo JA, Cia P, Grande F (1990) Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Varones (I). Clin Invest Arteriosclerosis 2:43-47
    • (1990) Clin Invest Arteriosclerosis , vol.2 , pp. 43-47
    • Civeira, F.1    Pocovi, M.2    Moreda, A.3    Alamillo, J.A.4    Cia, P.5    Grande, F.6
  • 4
    • 0023205323 scopus 로고
    • Exclusion mapping
    • Edwards J (1987) Exclusion mapping. J Med Genet 24:539-543
    • (1987) J Med Genet , vol.24 , pp. 539-543
    • Edwards, J.1
  • 5
    • 0016241915 scopus 로고
    • Binding and degradation of low density lipoproteins by cultured human fibroblasts: Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
    • Goldstein J, Brown M (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts: comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 249:5153-5162
    • (1974) J Biol Chem , vol.249 , pp. 5153-5162
    • Goldstein, J.1    Brown, M.2
  • 6
    • 0002230202 scopus 로고
    • Familial hypercholesterolemia
    • Scriver C, Beaudet A, Sly W (eds). McGraw-Hill, New York
    • -(1989) Familial hypercholesterolemia. In: Scriver C, Beaudet A, Sly W (eds) The metabolic basis of inherited diseases, 6th ed. McGraw-Hill, New York, pp 1215-1250
    • (1989) The Metabolic Basis of Inherited Diseases, 6th Ed. , pp. 1215-1250
  • 8
    • 0025939752 scopus 로고
    • cDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1p21-pter
    • He Z, Yamamoto R, Furth EE, Schantz LJ, Naylor SL, George H, Billheimer JT, et al (1991) cDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1p21-pter. DNA Cell Biol 10:559-569
    • (1991) DNA Cell Biol , vol.10 , pp. 559-569
    • He, Z.1    Yamamoto, R.2    Furth, E.E.3    Schantz, L.J.4    Naylor, S.L.5    George, H.6    Billheimer, J.T.7
  • 10
    • 0030968647 scopus 로고    scopus 로고
    • Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene
    • Kim D-H, Magoori K, Inoue TR, Mao CC, Kim H-J, Suzuki H, Fujitas T, et al (1997) Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene. J Biol Chem 272:8498-8504
    • (1997) J Biol Chem , vol.272 , pp. 8498-8504
    • Kim, D.-H.1    Magoori, K.2    Inoue, T.R.3    Mao, C.C.4    Kim, H.-J.5    Suzuki, H.6    Fujitas, T.7
  • 11
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
    • (1997) Am J Hum Genet , vol.61 , pp. 1179-1188
    • Kong, A.1    Cox, N.J.2
  • 12
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 14
    • 0028268993 scopus 로고
    • Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile
    • Lestavel-Delattre S, Benhamamouch S, Agnani G, Luc G, Bard J, Brousseau T, Billardon C, et al (1994) Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile. Metabolism 43:397-402
    • (1994) Metabolism , vol.43 , pp. 397-402
    • Lestavel-Delattre, S.1    Benhamamouch, S.2    Agnani, G.3    Luc, G.4    Bard, J.5    Brousseau, T.6    Billardon, C.7
  • 15
    • 0344507606 scopus 로고
    • Human genes involved in cholesterol metabolism: Chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes
    • Lindgren V, Luskey KL, Russell DW, Francke U (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Nat Acad Sci USA 82:8567-8571
    • (1985) Proc Nat Acad Sci USA , vol.82 , pp. 8567-8571
    • Lindgren, V.1    Luskey, K.L.2    Russell, D.W.3    Francke, U.4
  • 16
    • 0025348380 scopus 로고
    • Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolemia
    • Masana L, Joven J, Rubiés-Prat J, Lewis B (1990) Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolemia. Acta Paediatr 79:475-476
    • (1990) Acta Paediatr , vol.79 , pp. 475-476
    • Masana, L.1    Joven, J.2    Rubiés-Prat, J.3    Lewis, B.4
  • 17
    • 0029094386 scopus 로고
    • Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
    • Miserez AR, Keller U (1995) Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 15:1719-1729
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1719-1729
    • Miserez, A.R.1    Keller, U.2
  • 18
    • 0002233690 scopus 로고
    • Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Mujeres (II)
    • Moreda A, Alamillo JA, Pocovi M, Civeira F, Blasco M, Ordovas JM (1990) Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: mujeres (II). Clin Invest Arteriosclerosis 2:48-54
    • (1990) Clin Invest Arteriosclerosis , vol.2 , pp. 48-54
    • Moreda, A.1    Alamillo, J.A.2    Pocovi, M.3    Civeira, F.4    Blasco, M.5    Ordovas, J.M.6
  • 19
    • 0031879764 scopus 로고    scopus 로고
    • Mutation screening of the LDLR gene and APOB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay
    • Nissen H, Lestavel S, Hansen TS, Luc G, Bruckert E, Clavey V (1998) Mutation screening of the LDLR gene and APOB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. Clin Genet 54:79-82
    • (1998) Clin Genet , vol.54 , pp. 79-82
    • Nissen, H.1    Lestavel, S.2    Hansen, T.S.3    Luc, G.4    Bruckert, E.5    Clavey, V.6
  • 20
    • 0028790963 scopus 로고
    • The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
    • O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 11:402-408
    • (1995) Nat Genet , vol.11 , pp. 402-408
    • O'Connell, J.R.1    Weeks, D.E.2
  • 22
    • 0021064786 scopus 로고
    • Linkage analysis and family classification under heterogeneity
    • Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320
    • (1983) Ann Hum Genet , vol.47 , pp. 311-320
    • Ott, J.1
  • 23
    • 0003408936 scopus 로고
    • The Johns Hopkins University Press, Baltimore and London
    • -(1991) Analysis of human genetic linkage, revised ed. The Johns Hopkins University Press, Baltimore and London
    • (1991) Analysis of Human Genetic Linkage, Revised Ed.
  • 25
    • 0029896288 scopus 로고    scopus 로고
    • The human mammary-derived growth inhibitor (MDGI) gene: Genomic structure and mutation analysis in human breast tumors
    • Phelan CM, Larsson C, Baird S, Futreal AP, Ruttledge MH, Morgan K, Tonin P, et al (1996) The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors. Genomics 34:63-68
    • (1996) Genomics , vol.34 , pp. 63-68
    • Phelan, C.M.1    Larsson, C.2    Baird, S.3    Futreal, A.P.4    Ruttledge, M.H.5    Morgan, K.6    Tonin, P.7
  • 26
    • 0030725327 scopus 로고    scopus 로고
    • L'hypercholestérolémie familiale 25 ans après Brown et Goldstein II: Défauts du gène APOB, défauts combinés et autres gènes impliqués
    • Rabès JP, Varret M, Boileau C (1997) L'hypercholestérolémie Familiale 25 ans après Brown et Goldstein II: défauts du gène APOB, défauts combinés et autres gènes impliqués. Médecine Sciences 12:1409-1418
    • (1997) Médecine Sciences , vol.12 , pp. 1409-1418
    • Rabès, J.P.1    Varret, M.2    Boileau, C.3
  • 28
    • 0001899031 scopus 로고
    • Cholestérol total
    • Siest G, Henny J, Schiele F (eds). Elsevier, Paris
    • Steinmetz J (1990) Cholestérol total. In: Siest G, Henny J, Schiele F (eds) Références en biologie clinique. Elsevier, Paris, pp 190-209
    • (1990) Références en Biologie Clinique , pp. 190-209
    • Steinmetz, J.1
  • 29
    • 0031443429 scopus 로고    scopus 로고
    • Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia
    • Sun X-M, Patel DD, Knight BL, Soutar AK, The FH Regression Study Group (1997) Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 17:3092-3101
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 3092-3101
    • Sun, X.-M.1    Patel, D.D.2    Knight, B.L.3    Soutar, A.K.4
  • 30
    • 0030659002 scopus 로고    scopus 로고
    • L'hypercholestérolémie familiale 25 ans après Brown et Goldstein I: Le point sur la maladie du gène du récepteur LDL, ses modèles animaux et sa thérapie génique
    • Varret M, Rabès JP, Boileau C (1997a) L'hypercholestérolémie familiale 25 ans après Brown et Goldstein I: le point sur la maladie du gène du récepteur LDL, ses modèles animaux et sa thérapie génique. Médecine Sciences 12:1399-1408
    • (1997) Médecine Sciences , vol.12 , pp. 1399-1408
    • Varret, M.1    Rabès, J.P.2    Boileau, C.3
  • 32
    • 0031833042 scopus 로고    scopus 로고
    • LDLR database, 2d ed. New additions to the database and the software, and results of the first molecular analysis
    • Varret M, Rabès JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, et al (1998) LDLR database, 2d ed. New additions to the database and the software, and results of the first molecular analysis. Nucleic Acids Res 26:248-252
    • (1998) Nucleic Acids Res , vol.26 , pp. 248-252
    • Varret, M.1    Rabès, J.P.2    Thiart, R.3    Kotze, M.J.4    Baron, H.5    Cenarro, A.6    Descamps, O.7
  • 33
    • 0027449252 scopus 로고
    • Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah
    • Williams RR, Schumacher MC, Barlow GK, Hunt SC, Ware JL, Pratt M, Latham BD (1993) Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. Am J Cardiol 72:180-240
    • (1993) Am J Cardiol , vol.72 , pp. 180-240
    • Williams, R.R.1    Schumacher, M.C.2    Barlow, G.K.3    Hunt, S.C.4    Ware, J.L.5    Pratt, M.6    Latham, B.D.7
  • 34
    • 0025970749 scopus 로고
    • Familial combined hyperlipidemia is linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24
    • Wojciechowski AP, Farral M, Cullen P, Wilson TME, Bayliss JD, Farren B, Griffin BA, et al (1991) Familial combined hyperlipidemia is linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24. Nature 349:161-164
    • (1991) Nature , vol.349 , pp. 161-164
    • Wojciechowski, A.P.1    Farral, M.2    Cullen, P.3    Wilson, T.M.E.4    Bayliss, J.D.5    Farren, B.6    Griffin, B.A.7
  • 35
    • 0028318695 scopus 로고
    • The human EPS15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32
    • Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, et al (1994) The human EPS15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. Oncogene 9:1591-1597
    • (1994) Oncogene , vol.9 , pp. 1591-1597
    • Wong, W.T.1    Kraus, M.H.2    Carlomagno, F.3    Zelano, A.4    Druck, T.5    Croce, C.M.6    Huebner, K.7


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