-
1
-
-
0029153045
-
The tissue factor pathway: How it has become a 'prima ballerina'
-
Rapaport SI, Rao RVM. The tissue factor pathway: How it has become a 'prima ballerina'. Thromb Haemost 1995; 74: 7-17.
-
(1995)
Thromb Haemost
, vol.74
, pp. 7-17
-
-
Rapaport, S.I.1
Rao, R.V.M.2
-
2
-
-
0030775316
-
Mice lacking factor VII develop normally but suffer fatal perinatal bleeding
-
Rosen ED, Chan JC, Idusogie E, Clotman F, Vlasuk G, Luther T, Jalbert LR, Albrecht S, Zhong L, Lissens A, Schoonjans L, Moons L, Collen D, Castellino FJ, Carmeliet P. Mice lacking factor VII develop normally but suffer fatal perinatal bleeding. Nature 1997; 390: 290-4.
-
(1997)
Nature
, vol.390
, pp. 290-294
-
-
Rosen, E.D.1
Chan, J.C.2
Idusogie, E.3
Clotman, F.4
Vlasuk, G.5
Luther, T.6
Jalbert, L.R.7
Albrecht, S.8
Zhong, L.9
Lissens, A.10
Schoonjans, L.11
Moons, L.12
Collen, D.13
Castellino, F.J.14
Carmeliet, P.15
-
3
-
-
20144382370
-
Clinical phenotypes and factor VII genotype in congenital factor VII deficiency
-
International Factor VII Deficiency Study Group
-
Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, Wulff K, Schved JF, Auerswald G, Ingerslev J, Bernardi F; International Factor VII Deficiency Study Group. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005; 93: 481-7.
-
(2005)
Thromb Haemost
, vol.93
, pp. 481-487
-
-
Mariani, G.1
Herrmann, F.H.2
Dolce, A.3
Batorova, A.4
Etro, D.5
Peyvandi, F.6
Wulff, K.7
Schved, J.F.8
Auerswald, G.9
Ingerslev, J.10
Bernardi, F.11
-
4
-
-
0035165403
-
Factor VII deficiency and the FVII mutation database
-
McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the FVII mutation database. Hum Mutat 2001; 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
-
5
-
-
33646758850
-
Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII
-
for the International Factor VII Deficiency Study Group
-
Pinotti M, Rizzotto L, Pinton P, Ferraresi P, Chuansumrit A, Charoenkwan P, Marchetti G, Rizzuto R, Mariani G, Bernardi F, for the International Factor VII Deficiency Study Group. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. J Thromb Haemost 2006; 4: 1308-14.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 1308-1314
-
-
Pinotti, M.1
Rizzotto, L.2
Pinton, P.3
Ferraresi, P.4
Chuansumrit, A.5
Charoenkwan, P.6
Marchetti, G.7
Rizzuto, R.8
Mariani, G.9
Bernardi, F.10
-
6
-
-
0029994529
-
Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
-
Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 1996; 2: 467-9.
-
(1996)
Nat Med
, vol.2
, pp. 467-469
-
-
Howard, M.1
Frizzell, R.A.2
Bedwell, D.M.3
-
7
-
-
0030702773
-
Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
-
Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 1997; 3: 1280-4.
-
(1997)
Nat Med
, vol.3
, pp. 1280-1284
-
-
Bedwell, D.M.1
Kaenjak, A.2
Benos, D.J.3
Bebok, Z.4
Bubien, J.K.5
Hong, J.6
Tousson, A.7
Clancy, J.P.8
Sorscher, E.J.9
-
8
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999; 104: 375-81.
-
(1999)
J Clin Invest
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
Cordier, L.2
Shoturma, D.I.3
Leland, S.E.4
Sweeney, H.L.5
-
9
-
-
0035253591
-
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
-
Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 2001; 10: 291-9.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 291-299
-
-
Keeling, K.M.1
Brooks, D.A.2
Hopwood, J.J.3
Li, P.4
Thompson, J.N.5
Bedwell, D.M.6
-
10
-
-
2442527864
-
Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo
-
Sangkuhl K, Schulz A, Rompler H, Yun J, Wess J, Schoneberg T. Aminoglycoside-mediated rescue of a disease-causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. Hum Mol Genet 2004; 13: 893-903.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 893-903
-
-
Sangkuhl, K.1
Schulz, A.2
Rompler, H.3
Yun, J.4
Wess, J.5
Schoneberg, T.6
-
11
-
-
8144226267
-
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
-
Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, Gatti RA. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 2004; 101: 15676-81.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 15676-15681
-
-
Lai, C.H.1
Chun, H.H.2
Nahas, S.A.3
Mitui, M.4
Gamo, K.M.5
Du, L.6
Gatti, R.A.7
-
12
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M, Yahav H, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003; 349: 1433-41.
-
(2003)
N Engl J Med
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, H.2
Yaacov, Y.3
Blau, H.4
Bentur, L.5
Rivlin, J.6
Aviram, M.7
Bdolah-Abram, T.8
Bebok, Z.9
Shushi, L.10
Kerem, B.11
Kerem, E.12
-
13
-
-
27644488290
-
Aminoglycoside suppression of nonsense mutations in severe hemophilia
-
James PD, Raut S, Rivard GE, Poon MC, Warner M, McKenna S, Leggo J, Lillicrap D. Aminoglycoside suppression of nonsense mutations in severe hemophilia. Blood 2005; 106: 3043-8.
-
(2005)
Blood
, vol.106
, pp. 3043-3048
-
-
James, P.D.1
Raut, S.2
Rivard, G.E.3
Poon, M.C.4
Warner, M.5
McKenna, S.6
Leggo, J.7
Lillicrap, D.8
-
14
-
-
0036142862
-
Killing the messenger: New insights into nonsense-mediated mRNA decay
-
Byers PH. Killing the messenger: New insights into nonsense-mediated mRNA decay. J Clin Invest 2002; 109: 3-6.
-
(2002)
J Clin Invest
, vol.109
, pp. 3-6
-
-
Byers, P.H.1
-
15
-
-
0027518301
-
Once versus thrice daily gentamicine in patients with serious infections
-
Prins JM, Buller HR, Kuijper EJ, Tange RA, Speelman P. Once versus thrice daily gentamicine in patients with serious infections. Lancet 1993; 341: 335-9.
-
(1993)
Lancet
, vol.341
, pp. 335-339
-
-
Prins, J.M.1
Buller, H.R.2
Kuijper, E.J.3
Tange, R.A.4
Speelman, P.5
-
16
-
-
0037082445
-
Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser)
-
Pinotti M, Etro D, Bindini D, Papa ML, Rodorigo G, Rocino A, Mariani G, Ciavarella N, Bernardi F. Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser). Blood 2002; 99: 1495-7.
-
(2002)
Blood
, vol.99
, pp. 1495-1497
-
-
Pinotti, M.1
Etro, D.2
Bindini, D.3
Papa, M.L.4
Rodorigo, G.5
Rocino, A.6
Mariani, G.7
Ciavarella, N.8
Bernardi, F.9
-
17
-
-
0028932993
-
Tissue factor pathway inhibitor and the revised theory of coagulation
-
Broze Jr GJ. Tissue factor pathway inhibitor and the revised theory of coagulation. Annu Rev Med 1995; 46: 103-12.
-
(1995)
Annu Rev Med
, vol.46
, pp. 103-112
-
-
Broze Jr., G.J.1
-
18
-
-
10444250971
-
Characterization of mild coagulation factor VII deficiency: Activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s)
-
Furlan Freguia C, Toso R, Pollak ES, Arruda VR, Pinotti M, Bernardi F. Characterization of mild coagulation factor VII deficiency: Activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s). Haematologica 2004; 89: 1504-9.
-
(2004)
Haematologica
, vol.89
, pp. 1504-1509
-
-
Furlan Freguia, C.1
Toso, R.2
Pollak, E.S.3
Arruda, V.R.4
Pinotti, M.5
Bernardi, F.6
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