-
1
-
-
0003720078
-
Familial hypercholesterolemia
-
C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Book, Co. New York, NY
-
Goldstein, J. L., H. H. Hobbs, and M. S. Brown. 1995. Familial hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill Book, Co. New York, NY. 1981-2030.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
0030873743
-
Software and data base for the analysis of mutations in the human LDL-rectptor
-
Warrett, M., J. P. Rabes, G. Collod-Beraud, C. Junien, C. Boileau, and C. Beroud. 1997. Software and data base for the analysis of mutations in the human LDL-rectptor. Nucleic Acid Res. 25: 172-180.
-
(1997)
Nucleic Acid Res.
, vol.25
, pp. 172-180
-
-
Warrett, M.1
Rabes, J.P.2
Collod-Beraud, G.3
Junien, C.4
Boileau, C.5
Beroud, C.6
-
3
-
-
0026030939
-
Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia
-
Lelli, N., M. Ghisellini, R. Gualdi, R. Tiozzo, S. Calandra, A. Gaddi, M. Ciarrocchi, M. Arca, S. Fazio, and S. Bertolini. 1991. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia. Arterioscler. Thromb. 11: 234-243.
-
(1991)
Arterioscler. Thromb.
, vol.11
, pp. 234-243
-
-
Lelli, N.1
Ghisellini, M.2
Gualdi, R.3
Tiozzo, R.4
Calandra, S.5
Gaddi, A.6
Ciarrocchi, M.7
Arca, M.8
Fazio, S.9
Bertolini, S.10
-
4
-
-
0029069578
-
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FH- Benevento)
-
Lelli, N., R. Garuti, M. Ghisellini, R. Tiozzo, M. Rolleri, V. Aimale, E. Ginocchio, A. Naselli, S. Bertolini, and S. Calandra. 1995. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FH- Benevento). J. Lipid Res. 36: 1315-1324.
-
(1995)
J. Lipid Res.
, vol.36
, pp. 1315-1324
-
-
Lelli, N.1
Garuti, R.2
Ghisellini, M.3
Tiozzo, R.4
Rolleri, M.5
Aimale, V.6
Ginocchio, E.7
Naselli, A.8
Bertolini, S.9
Calandra, S.10
-
5
-
-
0025266556
-
Common low density lipoprotein receptor mutations in the French Canadian population
-
Leitersdorf, E., E. J. Tobin, J. Davignon, and H. H. Hobbs. 1990. Common low density lipoprotein receptor mutations in the French Canadian population. J. Clin. Invest. 85: 1014-1023.
-
(1990)
J. Clin. Invest.
, vol.85
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
6
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidininm thiocyanate-phenol-chloroform extraction
-
Chomczynsky, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidininm thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162: 156-159.
-
(1987)
Anal. Biochem.
, vol.162
, pp. 156-159
-
-
Chomczynsky, P.1
Sacchi, N.2
-
7
-
-
0021354446
-
Degradation of lipoproteins by human monocyte-derived macrophages
-
Soutar, A. K., and B. L. Knight. 1984. Degradation of lipoproteins by human monocyte-derived macrophages. Biochem. J. 218: 101-111.
-
(1984)
Biochem. J.
, vol.218
, pp. 101-111
-
-
Soutar, A.K.1
Knight, B.L.2
-
8
-
-
0017239371
-
Release of low density lipoproteins by its cell surface receptor by sulfated glycosaminoglycans
-
Goldstein, J. L., S. K. Basu, G. Y. Brunschede, and M. S. Brown. 1976. Release of low density lipoproteins by its cell surface receptor by sulfated glycosaminoglycans. Cell. 7: 85-95.
-
(1976)
Cell
, vol.7
, pp. 85-95
-
-
Goldstein, J.L.1
Basu, S.K.2
Brunschede, G.Y.3
Brown, M.S.4
-
9
-
-
0016241915
-
Binding and degradation of low density lipoproteins by cultured human fibroblasts
-
Goldstein, J. L., and M. S. Brown. 1974. Binding and degradation of low density lipoproteins by cultured human fibroblasts. J. Biol. Chem. 249: 5153-5162.
-
(1974)
J. Biol. Chem.
, vol.249
, pp. 5153-5162
-
-
Goldstein, J.L.1
Brown, M.S.2
-
10
-
-
0023665288
-
Self association of the low density lipoprotein receptor mediated by the cytoplasmic domain
-
Van Driel, I. R., C. G. Davis, J. L. Goldstein, and M. S. Brown. 1987. Self association of the low density lipoprotein receptor mediated by the cytoplasmic domain. J. Biol. Chem. 262: 16127-16134.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 16127-16134
-
-
Van Driel, I.R.1
Davis, C.G.2
Goldstein, J.L.3
Brown, M.S.4
-
11
-
-
0024573938
-
Defective processing and binding of low density lipoprotein receptors in fibroblasts from a familial hypercholesterolemic subject
-
Knight, B. L., S. J. P. Gavigan, A. K. Soutar, and D. D. Patel. 1989. Defective processing and binding of low density lipoprotein receptors in fibroblasts from a familial hypercholesterolemic subject. Eur. J. Biochem. 179: 693-698.
-
(1989)
Eur. J. Biochem.
, vol.179
, pp. 693-698
-
-
Knight, B.L.1
Gavigan, S.J.P.2
Soutar, A.K.3
Patel, D.D.4
-
12
-
-
0027475516
-
A mutation and an antibody that affect chemical cross-linking of low density receptors on human fibroblasts
-
Patel, D. D., A. K. Soutar, and B. L. Knight. 1993. A mutation and an antibody that affect chemical cross-linking of low density receptors on human fibroblasts. Biochem. J. 289: 569-573.
-
(1993)
Biochem. J.
, vol.289
, pp. 569-573
-
-
Patel, D.D.1
Soutar, A.K.2
Knight, B.L.3
-
13
-
-
0022638225
-
Imniunoprecipitation of the low density lipoprotein (LDL) receptor and its precursor from human monocyte-derived macrophages
-
Soutar, A. K., and B. L. Knight. 1986. Imniunoprecipitation of the low density lipoprotein (LDL) receptor and its precursor from human monocyte-derived macrophages. Biochem. J. 233: 683-690.
-
(1986)
Biochem. J.
, vol.233
, pp. 683-690
-
-
Soutar, A.K.1
Knight, B.L.2
-
14
-
-
0023940003
-
Hormonal regulation of low density lipoprotein (LDL) receptor activity in human hepatoma HepG2 cells
-
Wade, D. P., B. L. Knight, and A. K. Soutar. 1988. Hormonal regulation of low density lipoprotein (LDL) receptor activity in human hepatoma HepG2 cells. Eur. J. Biochem. 174: 213-218.
-
(1988)
Eur. J. Biochem.
, vol.174
, pp. 213-218
-
-
Wade, D.P.1
Knight, B.L.2
Soutar, A.K.3
-
15
-
-
0028954299
-
Abnormal structure and co-operative binding of low density lipoprotein receptor containing the Glu→80Lys mutation
-
Patel, D. D., A. K. Soutar, and B. L. Knight. 1995. Abnormal structure and co-operative binding of low density lipoprotein receptor containing the Glu→80Lys mutation. Biochim. Biophys. Acta. 1255: 285-292.
-
(1995)
Biochim. Biophys. Acta
, vol.1255
, pp. 285-292
-
-
Patel, D.D.1
Soutar, A.K.2
Knight, B.L.3
-
16
-
-
0023139454
-
Regulation of synthesis and cell content of the low density lipoprotein receptor protein in cultured fibroblasts from normal and familial hypercholesterolemic subjects
-
Knight, B. L., D. D. Patel, and A. K. Soutar. 1987. Regulation of synthesis and cell content of the low density lipoprotein receptor protein in cultured fibroblasts from normal and familial hypercholesterolemic subjects. Eur. J. Biochem 163: 189-196.
-
(1987)
Eur. J. Biochem
, vol.163
, pp. 189-196
-
-
Knight, B.L.1
Patel, D.D.2
Soutar, A.K.3
-
17
-
-
84969001783
-
The attractions of proteins for small molecules and ions
-
Scatchard, G. 1945. The attractions of proteins for small molecules and ions. Ann. NY. Acad. Sci. 51: 660-672.
-
(1945)
Ann. NY. Acad. Sci.
, vol.51
, pp. 660-672
-
-
Scatchard, G.1
-
18
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M., and D. N. Cooper. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86: 425-441.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
19
-
-
0023779566
-
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia
-
Leitersdorf, E., H. H. Hobbs, A. M. Fourie, M. Jacobs, D. R. van der Westhuyzen, and G. A. Coetzee. 1988. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. Proc. Nad. Acad. Sci. USA. 85: 7912-7916.
-
(1988)
Proc. Nad. Acad. Sci. USA
, vol.85
, pp. 7912-7916
-
-
Leitersdorf, E.1
Hobbs, H.H.2
Fourie, A.M.3
Jacobs, M.4
Van Der Westhuyzen, D.R.5
Coetzee, G.A.6
-
20
-
-
0027358408
-
Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia
-
Yamakawa-Kobayashi, K., T. Kobayashi, K. Sakuy, K. Arakawa, and H. Hamaguchi. 1993. Two novel frameshift mutations associated with the presence of direct repeats of the LDL receptor gene in familial hypercholesterolemia. Hum. Genet. 92: 331-335.
-
(1993)
Hum. Genet.
, vol.92
, pp. 331-335
-
-
Yamakawa-Kobayashi, K.1
Kobayashi, T.2
Sakuy, K.3
Arakawa, K.4
Hamaguchi, H.5
-
21
-
-
0030048844
-
Reggio Emilia)
-
Reggio Emilia). Atherosclerosis. 121: 105-117.
-
(1996)
Atherosclerosis
, vol.121
, pp. 105-117
-
-
Garuti, R.1
Lelli, N.2
Barozzini, M.3
Tiozzo, R.4
Ghisellini, M.5
Simone, M.L.6
Li Volti, S.7
Garozzo, R.8
Mollica, F.9
Vergoni, W.10
Bertolini, S.11
Calandra, S.12
-
22
-
-
0023610526
-
Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia
-
Lehrman, M. A., J. L. Goldstein, D. W. Russell, and M. S. Brown. 1987. Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell. 48: 827-835.
-
(1987)
Cell
, vol.48
, pp. 827-835
-
-
Lehrman, M.A.1
Goldstein, J.L.2
Russell, D.W.3
Brown, M.S.4
-
23
-
-
0025754750
-
DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia
-
Rudiger, N. S., E. M. Heinsvig, F. A. Hansen, O. Faegerman. L. Bolund, and N. Gregersen. 1991. DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia. Clin. Genet. 39: 451-462.
-
(1991)
Clin. Genet.
, vol.39
, pp. 451-462
-
-
Rudiger, N.S.1
Heinsvig, E.M.2
Hansen, F.A.3
Faegerman, O.4
Bolund, L.5
Gregersen, N.6
-
24
-
-
0024456578
-
Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia
-
Miyake, Y., S. Tajima, T. Funahashi, and A. Yamamoto. 1989. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia. J. Biol. Chem. 264: 16584-16590.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 16584-16590
-
-
Miyake, Y.1
Tajima, S.2
Funahashi, T.3
Yamamoto, A.4
-
25
-
-
0028026592
-
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno)
-
Bertolini, S., D. D. Patel, D. A. Coviello, N. Lelli. M. Ghisellini, R. Tiozzo, P. Masturzo, N. Elicio, B. L. Knight, and S. Calandra. 1994. Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno). J. Lipid Res. 35: 1422-1430.
-
(1994)
J. Lipid Res.
, vol.35
, pp. 1422-1430
-
-
Bertolini, S.1
Patel, D.D.2
Coviello, D.A.3
Lelli, N.4
Ghisellini, M.5
Tiozzo, R.6
Masturzo, P.7
Elicio, N.8
Knight, B.L.9
Calandra, S.10
|