-
1
-
-
0017246512
-
Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein
-
BROWN, M.S. & GOLDSTEIN, J.L. 1976. Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein. Cell 9: 663-674.
-
(1976)
Cell
, vol.9
, pp. 663-674
-
-
Brown, M.S.1
Goldstein, J.L.2
-
2
-
-
0017354135
-
The low density lipoprotein pathway and its relation to atherosclerosis
-
GOLDSTEIN, J.L. & BROWN, M.S. 1977. The low density lipoprotein pathway and its relation to atherosclerosis. Annu. Rev. Biochem. 46: 897-930.
-
(1977)
Annu. Rev. Biochem.
, vol.46
, pp. 897-930
-
-
Goldstein, J.L.1
Brown, M.S.2
-
3
-
-
0030873743
-
Software and database for the analysis of mutations in the human LDL receptor gene
-
VARRET, M., RABES, J.P., COLLOD-BEROUD, G., JUNIEN, C., BOILEAU, C. & BEROUD, C. 1997. Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acid Res. 25: 172-180.
-
(1997)
Nucleic Acid Res.
, vol.25
, pp. 172-180
-
-
Varret, M.1
Rabes, J.P.2
Collod-Beroud, G.3
Junien, C.4
Boileau, C.5
Beroud, C.6
-
4
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
HOBBS, H.H., BROWN, M.S. & GOLDSTEIN, J.L. 1992. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Human Mutat. 1: 445-466.
-
(1992)
Human Mutat.
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
5
-
-
0022259920
-
The LDL receptor gene: A mosaic of exons shared with different proteins
-
SUDHOF, T.C., GOLDSTEIN, J.L., BROWN, M.S. & RUSSEL, D.W. 1985. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228: 815-822.
-
(1985)
Science
, vol.228
, pp. 815-822
-
-
Sudhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russel, D.W.4
-
6
-
-
0023091262
-
Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region
-
DAVIS, C.G., GOLDSTEIN, J.L., SUDHOF, T.C., ANDERSON, R.G.W., RUSSEL, D.W. & BROWN, M.S. 1987. Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature 326: 760-765.
-
(1987)
Nature
, vol.326
, pp. 760-765
-
-
Davis, C.G.1
Goldstein, J.L.2
Sudhof, T.C.3
Anderson, R.G.W.4
Russel, D.W.5
Brown, M.S.6
-
7
-
-
0025250145
-
NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor
-
CHEN, W.J., GOLDSTEIN, J.L. & BROWN, M.S. 1990. NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. J. Biol. Chem. 265: 3116-3123.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 3116-3123
-
-
Chen, W.J.1
Goldstein, J.L.2
Brown, M.S.3
-
8
-
-
0025597137
-
The LDL receptor locus and familial hypercholesterolemia: Mutational analysis of a membrane protein
-
HOBBS, H.H., RUSSELL, D.W., BROWN, M.S. & GOLDSTEIN, J.L. 1990. The LDL receptor locus and familial hypercholesterolemia: mutational analysis of a membrane protein. Annu. Rev. Genet. 24: 133-170.
-
(1990)
Annu. Rev. Genet.
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
9
-
-
0041385467
-
Mutazioni del gene del recettore LDL responsabili di ipercolesterolemia familiare in Italia
-
BERTOLINI, S. & CALANDRA, S. 1994. Mutazioni del gene del recettore LDL responsabili di ipercolesterolemia familiare in Italia. Arterio Sclerosi News 1: 11.
-
(1994)
Arterio Sclerosi News
, vol.1
, pp. 11
-
-
Bertolini, S.1
Calandra, S.2
-
10
-
-
0042387595
-
Screening for mutations of LDL-R gene causing heterozygous familial hypercholesterolemia (FH) in Italy
-
European Atherosclerosis Society, University Hospital, Hamburg
-
BERTOLINI, S., ROLLERI, M., CALANDRA, S., GARUTI, R., CORTESE, C., MOTTI, C., ARCA, M., MERCURI, E., BLOTTA, I. & CANTAFORA, A. 1998. Screening for mutations of LDL-R gene causing heterozygous familial hypercholesterolemia (FH) in Italy. 70th EAS Congress, Abstracts. European Atherosclerosis Society, University Hospital, Hamburg. p. 69.
-
(1998)
70th EAS Congress, Abstracts
, pp. 69
-
-
Bertolini, S.1
Rolleri, M.2
Calandra, S.3
Garuti, R.4
Cortese, C.5
Motti, C.6
Arca, M.7
Mercuri, E.8
Blotta, I.9
Cantafora, A.10
-
11
-
-
0028220039
-
A new missense mutation (Cys297→Phe) of the low-density lipoprotein receptor in Italian patients with familial hypercolesterolemia (FH-Trieste)
-
LELLI, N., GARUTI, R., PEDRAZZI, P., GHISELLINI, M., SIMONE, M.L., TIOZZO, R., CATTIN, L., VALENTI, M., ROLLERI, M. & BERTOLINI, S. 1994. A new missense mutation (Cys297→Phe) of the low-density lipoprotein receptor in Italian patients with familial hypercolesterolemia (FH-Trieste). Hum. Genet. 93: 538-540.
-
(1994)
Hum. Genet.
, vol.93
, pp. 538-540
-
-
Lelli, N.1
Garuti, R.2
Pedrazzi, P.3
Ghisellini, M.4
Simone, M.L.5
Tiozzo, R.6
Cattin, L.7
Valenti, M.8
Rolleri, M.9
Bertolini, S.10
-
12
-
-
0030048844
-
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH-Siracusa and FH-Reggio-Emilia)
-
GARUTI, R., LELLI, N., BAROZZINI, M., TIOZZO, R., GHISELLINI, M., SIMONE, M.L., LI VOLTI, S., GAROZZO, R., MOLLICA, F., VERGONI, W., BERTOLINI, S. & CALANDRA, S. 1996. Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH-Siracusa and FH-Reggio-Emilia). Artheriosclerosis 121: 105-117.
-
(1996)
Artheriosclerosis
, 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
-
13
-
-
0031923607
-
Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction
-
CANTAFORA, A., BLOTTA, I., MERCURI, E., CALANDRA, S. & BERTOLINI, S. 1998. Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction. J. Lipid Res. 39: 1101-1105.
-
(1998)
J. Lipid Res.
, vol.39
, pp. 1101-1105
-
-
Cantafora, A.1
Blotta, I.2
Mercuri, E.3
Calandra, S.4
Bertolini, S.5
-
14
-
-
0029069578
-
Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FH-Benevento)
-
LELLI, N., GARUTI, R., GHISELLINI, M., TIOZZO, R., ROLLERI, M., AIMALE, V., GINOCCHIO, E., NASELLI, A., BERTOLINI, S. & CALANDRA, S. 1995. Occurrence of multiple aberrantly spliced mRNAs of LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FH-Benevento). J. Lipid Res. 36: 1315.
-
(1995)
J. Lipid Res.
, vol.36
, pp. 1315
-
-
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
-
15
-
-
0026030939
-
Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia
-
LELLI, N., GHISELLINI, M., GUALDI, R., TIOZZO, R., CALANDRA, S., GADDI, A., CIARROCCHI, A., ARCA, M., FAZIO, S., COVIELLO, A. & BERTOLINI, S. 1991. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia. Arteriosclerosis Thromb. 11: 234-243.
-
(1991)
Arteriosclerosis 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, A.7
Arca, M.8
Fazio, S.9
Coviello, A.10
Bertolini, S.11
-
16
-
-
0026752762
-
A large deletion in the LDL receptor genetic cause of familial hypercholesterolemia in three Italian families. A study that dates back to the 17th century (FH-Pavia)
-
BERTOLINI, S., LELLI, N., COVIELLO, D.A., GHISELLINI, M., MASTURZO, P., TIOZZO, R., ELICIO, N., GADDI, A. & CALANDRA, S. 1992. A large deletion in the LDL receptor genetic cause of familial hypercholesterolemia in three Italian families. A study that dates back to the 17th century (FH-Pavia). Am. J. Human Genet. 51: 123-134.
-
(1992)
Am. J. Human Genet.
, vol.51
, pp. 123-134
-
-
Bertolini, S.1
Lelli, N.2
Coviello, D.A.3
Ghisellini, M.4
Masturzo, P.5
Tiozzo, R.6
Elicio, N.7
Gaddi, A.8
Calandra, S.9
-
17
-
-
0028026592
-
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno)
-
BERTOLINI, S., PATEL, D.D., COVIELLO, D.A., LELLI, N., GHISELLINI, M., TIOZZO, R., MASTURZO, P., ELICIO, N., KNIGHT, B.L. & CALANDRA, S. 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
-
18
-
-
0025963262
-
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia
-
LELLI, N., GHISELLINI, M., CALANDRA, S., GADDI, A., CIARROCCHI, A., COVIELLO, D.A. & BERTOLINI, S. 1991. Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia. Hum. Genet. 89: 359-362.
-
(1991)
Hum. Genet.
, vol.89
, pp. 359-362
-
-
Lelli, N.1
Ghisellini, M.2
Calandra, S.3
Gaddi, A.4
Ciarrocchi, A.5
Coviello, D.A.6
Bertolini, S.7
-
19
-
-
0022536609
-
Exon Alu recombination deletes 5 kilobases from low density lipoprotein receptor gene, producing null phenotype in familial hypercholesterolemia
-
LEHRMANN, M.A., RUSSEL, D.W., GOLDSTEIN, J.L. & BROWN, M.S. 1986. Exon Alu recombination deletes 5 kilobases from low density lipoprotein receptor gene, producing null phenotype in familial hypercholesterolemia. Proc. Natl Acad. Sci. USA 83: 3679-3683.
-
(1986)
Proc. Natl Acad. Sci. USA
, vol.83
, pp. 3679-3683
-
-
Lehrmann, M.A.1
Russel, D.W.2
Goldstein, J.L.3
Brown, M.S.4
-
20
-
-
0027250455
-
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FH-Potenza)
-
LELLI, N., GARUTI R., CASSANELLI, S., TIOZZO, R., CORSINI, A., BERTOLINI, S., RIVA, E., ORTISI, M.T., BELLU, R. & CALANDRA, S. 1993. Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FH-Potenza). J. Lipid Res. 34: 1347-
-
(1993)
J. Lipid Res.
, vol.34
, pp. 1347
-
-
Lelli, N.1
Garuti, R.2
Cassanelli, S.3
Tiozzo, R.4
Corsini, A.5
Bertolini, S.6
Riva, E.7
Ortisi, M.T.8
Bellu, R.9
Calandra, S.10
-
21
-
-
4243244765
-
A tetranucleotide insertion in exon 8 of LDL-receptor gene in an Italian FH patient
-
RAMPA, P., MOTTI, C., TROVATELLO, G., BERNARDINI, S., MASSOUD, R., FUCCI, G., FEDERICI, G., CALANDRA, S., BERTOLINI, S. & CORTESE, C. 1997. A tetranucleotide insertion in exon 8 of LDL-receptor gene in an Italian FH patient. Atherosclerosis 135(Suppl. 1): S19.
-
(1997)
Atherosclerosis
, vol.135
, Issue.1 SUPPL.
-
-
Rampa, P.1
Motti, C.2
Trovatello, G.3
Bernardini, S.4
Massoud, R.5
Fucci, G.6
Federici, G.7
Calandra, S.8
Bertolini, S.9
Cortese, C.10
-
22
-
-
4243797391
-
FH Clusters in southern Italy
-
FASCETTI, V., ROLLERI, M., GUIDO, V., TROVATELLO, G., MASTURZO, P., GARUTI, R., MOTTI, C., CORTESE, C., CANTAFORA, A., CALANDRA, S. & BERTOLINI, S. 1997. FH Clusters in southern Italy. Atherosclerosis 135(Suppl. 1): S12.
-
(1997)
Atherosclerosis
, vol.135
, Issue.1 SUPPL.
-
-
Fascetti, V.1
Rolleri, M.2
Guido, V.3
Trovatello, G.4
Masturzo, P.5
Garuti, R.6
Motti, C.7
Cortese, C.8
Cantafora, A.9
Calandra, S.10
Bertolini, S.11
-
23
-
-
0042387590
-
Two frequent mutations of LDL-R gene causing familial hypercholesterolemia (FH) in northern Italy
-
European Atherosclerosis Society, University Hospital, Hamburg
-
BERTOLINI, S., ROLLERI, M., MASTURZO, P., ELICIO, N., MARTINI, S., CANTAFORA, A., GHISELLINI, M. & CALANDRA, S. 1998. Two frequent mutations of LDL-R gene causing familial hypercholesterolemia (FH) in northern Italy. 70th EAS Congress, Abstracts. European Atherosclerosis Society, University Hospital, Hamburg. p. 17.
-
(1998)
70th EAS Congress, Abstracts
, pp. 17
-
-
Bertolini, S.1
Rolleri, M.2
Masturzo, P.3
Elicio, N.4
Martini, S.5
Cantafora, A.6
Ghisellini, M.7
Calandra, S.8
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