-
1
-
-
0026059425
-
More von Willebrand factor type A domains? Sequence similarities with malaria thrombospondin-related anonymous protein, dihydropyridine-sensitive calcium channel and inter-alpha-trypsin inhibitor
-
Bork P, Rohde K (1991) More von Willebrand factor type A domains? Sequence similarities with malaria thrombospondin-related anonymous protein, dihydropyridine-sensitive calcium channel and inter-alpha-trypsin inhibitor. Biochem J 279:908-910
-
(1991)
Biochem J
, vol.279
, pp. 908-910
-
-
Bork, P.1
Rohde, K.2
-
2
-
-
0028986399
-
The three heavy-chain precursors for the inter-alpha-inhibitor family in mouse: New members of the multicopper oxidase protein group with differential transcription in liver and brain
-
Chan P, Risler JL, Raguenez G, Salier JP (1995) The three heavy-chain precursors for the inter-alpha-inhibitor family in mouse: new members of the multicopper oxidase protein group with differential transcription in liver and brain. Biochem J 306:505-512
-
(1995)
Biochem J
, vol.306
, pp. 505-512
-
-
Chan, P.1
Risler, J.L.2
Raguenez, G.3
Salier, J.P.4
-
4
-
-
10744220079
-
Hypertriglyceridemia associated with amino acid variation N985Y of RP1 gene
-
Fujita Y, Ezura Y, Emi M, Ono S, Takada D, Takahashi K, Uemura K, Iino Y, Katayama Y, Bujo H, Saito Y (2003) Hypertriglyceridemia associated with amino acid variation N985Y of RP1 gene. J Hum Genet 48:305-308
-
(2003)
J Hum Genet
, vol.48
, pp. 305-308
-
-
Fujita, Y.1
Ezura, Y.2
Emi, M.3
Ono, S.4
Takada, D.5
Takahashi, K.6
Uemura, K.7
Iino, Y.8
Katayama, Y.9
Bujo, H.10
Saito, Y.11
-
5
-
-
12244267055
-
Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series
-
Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, Tavtigian SV (2002) Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series. J Hum Genet 47:641-648
-
(2002)
J Hum Genet
, vol.47
, pp. 641-648
-
-
Fujiwara, H.1
Emi, M.2
Nagai, H.3
Nishimura, T.4
Konishi, N.5
Kubota, Y.6
Ichikawa, T.7
Takahashi, S.8
Shuin, T.9
Habuchi, T.10
Ogawa, O.11
Inoue, K.12
Skolnick, M.H.13
Swensen, J.14
Camp, N.J.15
Tavtigian, S.V.16
-
6
-
-
0000710395
-
Familial hypercholesterolaemia
-
Scriver CT, Beaudet Al, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Goldstein JL, Hobbs HH, Brown MS (1995) Familial hypercholesterolaemia. In: Scriver CT, Beaudet Al, Sly WS, Valle D (eds), The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp1981-2030
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
7
-
-
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
-
8
-
-
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
-
9
-
-
0035213101
-
Monogenic dyslipidemias: Window on determinants of plasma lipoprotein metabolism
-
Hegele RA (2001) Monogenic dyslipidemias: 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
-
10
-
-
0036160450
-
Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes
-
Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y (2002) Catalog of 77 single-nucleotide polymorphisms (SNPs) in the carbohydrate sulfotransferase 1 (CHST1) and carbohydrate sulfotransferase 3 (CHST3) genes. J Hum Genet 47:14-19
-
(2002)
J Hum Genet
, vol.47
, pp. 14-19
-
-
Iida, A.1
Saito, S.2
Sekine, A.3
Mishima, C.4
Kitamura, Y.5
Kondo, K.6
Harigae, S.7
Osawa, S.8
Nakamura, Y.9
-
11
-
-
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
-
12
-
-
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
-
13
-
-
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
-
14
-
-
0028982526
-
cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein
-
Nishimura H, Kakizaki I, Muta T, Sasaki N, Pu PX, Yamashita T, Nagasawa S (1995) cDNA and deduced amino acid sequence of human PK-120, a plasma kallikrein-sensitive glycoprotein. FEBS Lett 357:207-211
-
(1995)
FEBS Lett
, vol.357
, pp. 207-211
-
-
Nishimura, H.1
Kakizaki, I.2
Muta, T.3
Sasaki, N.4
Pu, P.X.5
Yamashita, T.6
Nagasawa, S.7
-
15
-
-
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
-
16
-
-
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
-
17
-
-
0028872421
-
Cloning and characterization of cDNA for inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP), a novel human plasma glycoprotein
-
Saguchi K, Tobe T, Hashimoto K, Sano Y, Nakano Y, Miura NH, Tomita M (1995) Cloning and characterization of cDNA for inter-alpha-trypsin inhibitor family heavy chain-related protein (IHRP), a novel human plasma glycoprotein. J Biochem 117:14-18
-
(1995)
J Biochem
, vol.117
, pp. 14-18
-
-
Saguchi, K.1
Tobe, T.2
Hashimoto, K.3
Sano, Y.4
Nakano, Y.5
Miura, N.H.6
Tomita, M.7
-
18
-
-
0036246271
-
Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR)
-
Saito S, Iida A, Sekine A, Miura Y, Ogawa C, Kawauchi S, Higuchi S, Nakamura Y (2002) Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR). J Hum Genet 47:147-171
-
(2002)
J Hum Genet
, vol.47
, pp. 147-171
-
-
Saito, S.1
Iida, A.2
Sekine, A.3
Miura, Y.4
Ogawa, C.5
Kawauchi, S.6
Higuchi, S.7
Nakamura, Y.8
-
19
-
-
0036955891
-
SNP alleles in human disease and evolution
-
Shastry BS (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
-
20
-
-
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
-
21
-
-
0036957089
-
Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: Genomic structure and seven polymorphisms of the FAP-1 gene
-
Yoshida S, Harada H, Nagai H, Fukino K, Teramoto A, Emi M (2002) Head-to-head juxtaposition of Fas-associated phosphatase-1 (FAP-1) and c-Jun NH2-terminal kinase 3 (JNK3) genes: genomic structure and seven polymorphisms of the FAP-1 gene. J Hum Genet 47:614-619
-
(2002)
J Hum Genet
, vol.47
, pp. 614-619
-
-
Yoshida, S.1
Harada, H.2
Nagai, H.3
Fukino, K.4
Teramoto, A.5
Emi, M.6
-
22
-
-
0033910818
-
Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22
-
Yuan B, Neuman R, Duan SH, Weber JL, Kwok PY, Saccone NL, Wu JS, Liu KY, Schonfeld G (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. Am J Hum Genet 66:1699-1704
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1699-1704
-
-
Yuan, B.1
Neuman, R.2
Duan, S.H.3
Weber, J.L.4
Kwok, P.Y.5
Saccone, N.L.6
Wu, J.S.7
Liu, K.Y.8
Schonfeld, G.9
-
23
-
-
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
|