-
1
-
-
0242585716
-
Blood coagulation
-
Dahlback B. (2000) Blood coagulation. Lancet 355:1627-32.
-
(2000)
Lancet
, vol.355
, pp. 1627-1632
-
-
Dahlback, B.1
-
3
-
-
0035822038
-
The hemophilias: From royal genes to gene therapy
-
Mannucci PM, Tuddenham EG. (2001) The hemophilias: from royal genes to gene therapy. N. Engl. J. Med. 344:1773-9.
-
(2001)
N. Engl. J. Med.
, vol.344
, pp. 1773-1779
-
-
Mannucci, P.M.1
Tuddenham, E.G.2
-
4
-
-
4444269047
-
Recessively inherited coagulation disorders
-
Mannucci PM, Duga S, Peyvandi F. (2004) Recessively inherited coagulation disorders. Blood 104:1243-52.
-
(2004)
Blood
, vol.104
, pp. 1243-1252
-
-
Mannucci, P.M.1
Duga, S.2
Peyvandi, F.3
-
5
-
-
0031804517
-
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
-
Kemball-Cook G, Tuddenham EG, Wacey AI. (1998) The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucleic Acids Res. 26:216-9.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 216-219
-
-
Kemball-Cook, G.1
Tuddenham, E.G.2
Wacey, A.I.3
-
6
-
-
0031841277
-
Haemophilia B: Database of point mutations and short additions and deletions
-
eighth edition
-
Giannelli F et al. (1998) Haemophilia B: database of point mutations and short additions and deletions, eighth edition. Nucleic Acids Res. 26:265-8.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 265-268
-
-
Giannelli, F.1
-
7
-
-
18844480017
-
Molecular analysis of the genotype-phenotype relationship in factor X deficiency
-
Millar DS et al. (2000) Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet. 6:249-57.
-
(2000)
Hum Genet.
, vol.6
, pp. 249-257
-
-
Millar, D.S.1
-
8
-
-
0035165403
-
Factor VII deficiency and the FVII mutation database
-
McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. (2001) Factor VII deficiency and the FVII mutation database. Hum. Mutat. 17:3-17.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 3-17
-
-
McVey, J.H.1
Boswell, E.2
Mumford, A.D.3
Kemball-Cook, G.4
Tuddenham, E.G.5
-
9
-
-
20144382370
-
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency
-
Mariani G et al. (2005) Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb. Haemost. 93:481-7.
-
(2005)
Thromb. Haemost.
, vol.93
, pp. 481-487
-
-
Mariani, G.1
-
10
-
-
24344435451
-
Factor XI deficiency database: An interactive web database of mutations, phenotypes, and structural analysis tools
-
Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ. (2005) Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Hum. Mutat. 26:192-8.
-
(2005)
Hum. Mutat.
, vol.26
, pp. 192-198
-
-
Saunders, R.E.1
O'Connell, N.M.2
Lee, C.A.3
Perry, D.J.4
Perkins, S.J.5
-
11
-
-
0027471438
-
Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum
-
Racchi M, Watzke HH, High KA, Lively MO. (1993) Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum. J. Biol. Chem. 268:5735-40.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 5735-5740
-
-
Racchi, M.1
Watzke, H.H.2
High, K.A.3
Lively, M.O.4
-
12
-
-
29144510451
-
Factor X Shanghai and disruption of translocation to the endoplasmic reticulum
-
Wang WB et al. (2005) Factor X Shanghai and disruption of translocation to the endoplasmic reticulum. Haematologica 90:1659-64.
-
(2005)
Haematologica
, vol.90
, pp. 1659-1664
-
-
Wang, W.B.1
-
13
-
-
0032534998
-
Impaired cotranslational processing as a mechanism for type I antithrombin deficiency
-
Fitches AC, Appleby R, Lane DA, De Stefano V, Leone G, Olds RJ. (1998) Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. Blood 92:4671-6.
-
(1998)
Blood
, vol.92
, pp. 4671-4676
-
-
Fitches, A.C.1
Appleby, R.2
Lane, D.A.3
De Stefano, V.4
Leone, G.5
Olds, R.J.6
-
14
-
-
0033557948
-
Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII
-
Hunault M, Arbini AA, Carew JA, Peyvandi F, Bauer KA. (1999) Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII. Blood. 93:1237-44.
-
(1999)
Blood
, vol.93
, pp. 1237-1244
-
-
Hunault, M.1
Arbini, A.A.2
Carew, J.A.3
Peyvandi, F.4
Bauer, K.A.5
-
15
-
-
0036786338
-
Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype
-
Yamazaki T, Nicolaes GA, Sorensen KW, Dahlback B. (2002) Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype. Blood. 100:2515-21.
-
(2002)
Blood
, vol.100
, pp. 2515-2521
-
-
Yamazaki, T.1
Nicolaes, G.A.2
Sorensen, K.W.3
Dahlback, B.4
-
16
-
-
0030845153
-
Molecular mechanisms of mutations in factor XIII A-subunit deficiency: In vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins
-
Mikkola H, Muszbek L, Haramura G, Hamalainen E, Jalanko A, Palotie A. (1997) Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins. Thromb. Haemost. 77:1068-72.
-
(1997)
Thromb. Haemost.
, vol.77
, pp. 1068-1072
-
-
Mikkola, H.1
Muszbek, L.2
Haramura, G.3
Hamalainen, E.4
Jalanko, A.5
Palotie, A.6
-
17
-
-
0025297583
-
The signal peptide
-
von Heijne G. (1990) The signal peptide. J. Membr. Biol. 115:195-201.
-
(1990)
J. Membr. Biol.
, vol.115
, pp. 195-201
-
-
Von Heijne, G.1
-
18
-
-
0021856417
-
Signal sequences: The limits for variation
-
von Heijne G. (1985) Signal sequences: the limits for variation. J. Mol. Biol. 184:99-105.
-
(1985)
J. Mol. Biol.
, vol.184
, pp. 99-105
-
-
Von Heijne, G.1
-
19
-
-
0034697980
-
Predicting subcellular localization of proteins based on their N-terminal amino acid sequence
-
Emanuelsson O, Nielsen H, Brunak S, von Heijne G. (2000) Predicting subcellular localization of proteins based on their N-terminal amino acid sequence. J. Mol. Biol. 300:1005-16.
-
(2000)
J. Mol. Biol.
, vol.300
, pp. 1005-1016
-
-
Emanuelsson, O.1
Nielsen, H.2
Brunak, S.3
Von Heijne, G.4
-
20
-
-
0029780351
-
The molecular structure of green fluorescent protein
-
Yang F, Moss LG, Phillips GN Jr. (1996) The molecular structure of green fluorescent protein. Nature Biotech. 14:1246-51.
-
(1996)
Nature Biotech.
, vol.14
, pp. 1246-1251
-
-
Yang, F.1
Moss, L.G.2
Phillips Jr., G.N.3
-
21
-
-
0029153045
-
The tissue factor pathway: How it has become a "prima ballerina"
-
Rapaport SI, Rao RVM. (1995) The tissue factor pathway: how it has become a "prima ballerina." Thromb. Haemost. 74:7-17.
-
(1995)
Thromb. Haemost.
, vol.74
, pp. 7-17
-
-
Rapaport, S.I.1
Rao, R.V.M.2
-
22
-
-
0030813937
-
Inherited factor VII deficiency: Molecular genetics and pathophysiology
-
Cooper DN, Millar DS, Wacey A, Banner DW, Tuddenham EGD. (1997) Inherited factor VII deficiency: molecular genetics and pathophysiology. Thromb. Haemost. 78:151-60.
-
(1997)
Thromb. Haemost.
, vol.78
, pp. 151-160
-
-
Cooper, D.N.1
Millar, D.S.2
Wacey, A.3
Banner, D.W.4
Tuddenham, E.G.D.5
-
23
-
-
0031970136
-
Factor VII Morioka (FVII L-26P): A homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency
-
Ozawa T, Takikawa Y, Niiya K, Ejiri N, Suzuki K, Sato S, Sakuragawa N. (1998) Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. Br. J. Haematol. 101:47-9.
-
(1998)
Br. J. Haematol.
, vol.101
, pp. 47-49
-
-
Ozawa, T.1
Takikawa, Y.2
Niiya, K.3
Ejiri, N.4
Suzuki, K.5
Sato, S.6
Sakuragawa, N.7
-
24
-
-
0034091518
-
Twenty two novel mutations of the factor VII gene in factor VII deficiency
-
Wulff K, Herrmann FH. (2000) Twenty two novel mutations of the factor VII gene in factor VII deficiency. Hum. Mutat. 15:489-96.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 489-496
-
-
Wulff, K.1
Herrmann, F.H.2
-
25
-
-
0032170546
-
Molecular mechanisms of FVII deficiency: Expression of mutations clustered in the IVS7 donor splice site of factor VII gene
-
Pinotti M, Toso R, Redaelli R, Berrettini M, Marchetti G, Bernardi F. (1998) Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene. Blood. 92:1646-51.
-
(1998)
Blood
, vol.92
, pp. 1646-1651
-
-
Pinotti, M.1
Toso, R.2
Redaelli, R.3
Berrettini, M.4
Marchetti, G.5
Bernardi, F.6
-
26
-
-
0035310832
-
Recombinant aequorin and green fluorescent protein as valuable tools in the study of cell signaling
-
Chiesa A, Rapizzi E, Tosello V, Pinton P, de Virgilio M, Fogarty KE, Rizzuto R. (2001) Recombinant aequorin and green fluorescent protein as valuable tools in the study of cell signaling. Biochem. J. 355:1-12.
-
(2001)
Biochem. J.
, vol.355
, pp. 1-12
-
-
Chiesa, A.1
Rapizzi, E.2
Tosello, V.3
Pinton, P.4
De Virgilio, M.5
Fogarty, K.E.6
Rizzuto, R.7
-
27
-
-
0037090624
-
A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates
-
Toso R, Pinotti M, High KA, Pollak ES, Bernardi F. (2002) A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates. Biochem. J. 363:411-6.
-
(2002)
Biochem. J.
, vol.363
, pp. 411-416
-
-
Toso, R.1
Pinotti, M.2
High, K.A.3
Pollak, E.S.4
Bernardi, F.5
-
28
-
-
0037082445
-
Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser)
-
Pinotti M et al. (2002) Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser). Blood. 99:1495-7.
-
(2002)
Blood
, vol.99
, pp. 1495-1497
-
-
Pinotti, M.1
-
29
-
-
0031860158
-
Post-translational modifications required for coagulation factor secretion and function
-
Kaufman RJ. (1998) Post-translational modifications required for coagulation factor secretion and function. Thromb. Haemost. 79:1068-79.
-
(1998)
Thromb. Haemost.
, vol.79
, pp. 1068-1079
-
-
Kaufman, R.J.1
-
30
-
-
0032525105
-
The carboxyl-terminal region of protein C is essential for its secretion
-
Katsumi A et al. (1998) The carboxyl-terminal region of protein C is essential for its secretion. Blood. 91:3784-91.
-
(1998)
Blood
, vol.91
, pp. 3784-3791
-
-
Katsumi, A.1
-
31
-
-
0025287330
-
Comparative modeling methods: Application to the family of the mammalian serine proteases
-
Greer J. (1990) Comparative modeling methods: application to the family of the mammalian serine proteases. Proteins 7:317-34.
-
(1990)
Proteins
, vol.7
, pp. 317-334
-
-
Greer, J.1
|