-
2
-
-
0033515010
-
Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells
-
Endo S, Suzuki M, Sumi M, Nairn AC, Morita R, Yamakawa K, Greengard P, Ito M (1999) Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells. Proc Natl Acad Sci USA 96:2467-2472
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2467-2472
-
-
Endo, S.1
Suzuki, M.2
Sumi, M.3
Nairn, A.C.4
Morita, R.5
Yamakawa, K.6
Greengard, P.7
Ito, M.8
-
3
-
-
0000710395
-
Familial hypercholesterolaemia
-
Scriver CT, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Goldstein JL, Hobbs HH, Brown MS: Familial hypercholesterolaemia. In: Scriver CT, Beaudet AL, Sly WS, Valle D (eds) (1995) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 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
-
4
-
-
0036956227
-
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: Identification of 190,562 genetic variations in the human genome
-
Haga H, Yamada R, Ohnishi, Y, Nakamura Y, Tanaka T (2002) Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. J Hum Genet 47:605-610
-
(2002)
J Hum Genet
, vol.47
, pp. 605-610
-
-
Haga, H.1
Yamada, R.2
Ohnishi, Y.3
Nakamura, Y.4
Tanaka, T.5
-
5
-
-
0033524912
-
Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase
-
Hall KU, Collins SP, Gamm DM, Massa E, DePaoli-Roach AA, Uhler MD (1999) Phosphorylation-dependent inhibition of protein phosphatase-1 by G-substrate. A Purkinje cell substrate of the cyclic GMP-dependent protein kinase. J Biol Chem 274:3485-95
-
(1999)
J Biol Chem
, vol.274
, pp. 3485-3495
-
-
Hall, K.U.1
Collins, S.P.2
Gamm, D.M.3
Massa, E.4
DePaoli-Roach, A.A.5
Uhler, M.D.6
-
6
-
-
0035077432
-
Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers
-
Harada H, Nagai H, Tsuneizumi M, Mikami I, Sugano S, Emi M (2001) Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers. J Hum Genet 46:90-95
-
(2001)
J Hum Genet
, vol.46
, pp. 90-95
-
-
Harada, H.1
Nagai, H.2
Tsuneizumi, M.3
Mikami, I.4
Sugano, S.5
Emi, M.6
-
7
-
-
0036215885
-
Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan
-
Hattori H, Hirayama T, Nobe Y, Nagano M, Kujiraoka T, Egashira T, Ishii J, Tsuji M, Emi M (2002) Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan. J Hum Genet 47:80-87
-
(2002)
J Hum Genet
, vol.47
, pp. 80-87
-
-
Hattori, H.1
Hirayama, T.2
Nobe, Y.3
Nagano, M.4
Kujiraoka, T.5
Egashira, T.6
Ishii, J.7
Tsuji, M.8
Emi, M.9
-
8
-
-
0035213101
-
Monogenic dislipidemias: Window on determinants of plasma lipoprotein metabolism
-
Hegele RA (2001) Monogenic dislipidemias: window on determinants of plasma lipoprotein metabolism. Am J Hum Genet 69:1161-1177
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1161-1177
-
-
Hegele, R.A.1
-
9
-
-
0036299871
-
Clinical variant of Tangier disease in Japan: Mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis
-
Ishii J, Nagano M, Kujiraoka T, Ishihara M, Egashira T, Takada D, Tsuji M, Hattori H, Emi M (2002) Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. J Hum Genet 47:366-369
-
(2002)
J Hum Genet
, vol.47
, pp. 366-369
-
-
Ishii, J.1
Nagano, M.2
Kujiraoka, T.3
Ishihara, M.4
Egashira, T.5
Takada, D.6
Tsuji, M.7
Hattori, H.8
Emi, M.9
-
10
-
-
0034991255
-
Development of genetic hypotheses in essential hypertension
-
Lalouel JM, Rohrwasser A (2001) Development of genetic hypotheses in essential hypertension. J Hum Genet 46:299-306
-
(2001)
J Hum Genet
, vol.46
, pp. 299-306
-
-
Lalouel, J.M.1
Rohrwasser, A.2
-
11
-
-
0029420047
-
Significance of hyperglycemia in the occurrence of ischemic heart disease
-
Matsuzawa Y (1995) Significance of hyperglycemia in the occurrence of ischemic heart disease. J Atheroscler Thromb 2:S26-28
-
(1995)
J Atheroscler Thromb
, vol.2
-
-
Matsuzawa, Y.1
-
12
-
-
0035070919
-
Human calcitonin receptor-like receptor for adrenomedullin: Genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis
-
Nakazawa I, Nakajima T, Harada H, Ishigami T, Umemura S, Emi M (2001) Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis. J Hum Genet 46:132-136
-
(2001)
J Hum Genet
, vol.46
, pp. 132-136
-
-
Nakazawa, I.1
Nakajima, T.2
Harada, H.3
Ishigami, T.4
Umemura, S.5
Emi, M.6
-
13
-
-
0034570664
-
Effect of bezafibrate treatment on the altered lipoprotein profiles in hypertriglyceridemic subjects
-
Norioka M, Suzuki M, Ryomoto K, Ikebuchi M, Harano Y (2000) Effect of bezafibrate treatment on the altered lipoprotein profiles in hypertriglyceridemic subjects. J Atheroscler Thromb 7:198-202
-
(2000)
J Atheroscler Thromb
, vol.7
, pp. 198-202
-
-
Norioka, M.1
Suzuki, M.2
Ryomoto, K.3
Ikebuchi, M.4
Harano, Y.5
-
14
-
-
0034885541
-
A high-throughput SNP typing system for genome-wide association studies
-
Ohnishi Y, Tanaka T, Ozaki K, Yamada R, Suzuki, H, Nakamura Y (2001) A high-throughput SNP typing system for genome-wide association studies. J Hum Genet 46:471-477
-
(2001)
J Hum Genet
, vol.46
, pp. 471-477
-
-
Ohnishi, Y.1
Tanaka, T.2
Ozaki, K.3
Yamada, R.4
Suzuki, H.5
Nakamura, Y.6
-
15
-
-
0035043560
-
A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density
-
Ota N, Nakajima T, Nakazawa I, Suzuki T, Hosoi T, Orimo H, Inoue S, Shirai Y, Emi M (2001) A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density. J Hum Genet 46:267-272
-
(2001)
J Hum Genet
, vol.46
, pp. 267-272
-
-
Ota, N.1
Nakajima, T.2
Nakazawa, I.3
Suzuki, T.4
Hosoi, T.5
Orimo, H.6
Inoue, S.7
Shirai, Y.8
Emi, M.9
-
16
-
-
0036955891
-
SNP alleles in human disease and evolution
-
Shastry B S (2002) SNP alleles in human disease and evolution. J Hum Genet 47:561-566
-
(2002)
J Hum Genet
, vol.47
, pp. 561-566
-
-
Shastry, B.S.1
-
17
-
-
0034884804
-
Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene
-
Shinohara Y, Ezura Y, Iwasaki H, Nakazawa I, Ishida R, Kodaira M, Kajita M, Shiba T, Emi M (2001) Linkage disequilibrium and haplotype analysis among ten single-nucleotide polymorphisms of interleukin 11 identified by sequencing of the gene. J Hum Genet 46:494-497
-
(2001)
J Hum Genet
, vol.46
, pp. 494-497
-
-
Shinohara, Y.1
Ezura, Y.2
Iwasaki, H.3
Nakazawa, I.4
Ishida, R.5
Kodaira, M.6
Kajita, M.7
Shiba, T.8
Emi, M.9
-
18
-
-
0038173623
-
Dynorphin and the hypothalamo-pituitary-adrenal axis during fetal development
-
Szeto HH (2003) Dynorphin and the hypothalamo-pituitary-adrenal axis during fetal development. Life Sci 73:749-58
-
(2003)
Life Sci
, vol.73
, pp. 749-758
-
-
Szeto, H.H.1
-
19
-
-
12244278253
-
Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: Molecular study in a 1135-member familial hypercholesterolemia kindred
-
Takada D, Emi M, Ezura Y, Nobe Y, Kawamura K, Iino Y, Katayama Y, Xin Y, Wu LL, Shum SL, Stephenson SH, Hunt SC, Hopkins PN (2002) Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: Molecular study in a 1135-member familial hypercholesterolemia kindred. J Hum Genet 47:656-664
-
(2002)
J Hum Genet
, vol.47
, pp. 656-664
-
-
Takada, D.1
Emi, M.2
Ezura, Y.3
Nobe, Y.4
Kawamura, K.5
Iino, Y.6
Katayama, Y.7
Xin, Y.8
Wu, L.L.9
Shum, S.L.10
Stephenson, S.H.11
Hunt, S.C.12
Hopkins, P.N.13
-
20
-
-
0021904641
-
Genetic mutations affecting human lipoprotein metabolism
-
Zannis VI, Breslow JL (1985) Genetic mutations affecting human lipoprotein metabolism. Adv Hum Genet 14:125-215
-
(1985)
Adv Hum Genet
, vol.14
, pp. 125-215
-
-
Zannis, V.I.1
Breslow, J.L.2
|