-
1
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8:1893-1900.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
2
-
-
0033180278
-
Should we kill the messenger? The role of the surveillance complex in translation termination and mRNA turnover
-
Czaplinski K, Ruiz-Echevarria MJ, Gonzalez CI, Peltz SW. Should we kill the messenger? The role of the surveillance complex in translation termination and mRNA turnover. Bioessays. 1999;21:685-696.
-
(1999)
Bioessays
, vol.21
, pp. 685-696
-
-
Czaplinski, K.1
Ruiz-Echevarria, M.J.2
Gonzalez, C.I.3
Peltz, S.W.4
-
3
-
-
0033082394
-
RNA surveillance: Unforeseen consequences for gene expression, inherited genetic disorders and cancer
-
Culbertson MR. RNA surveillance: unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet. 1999;15:74-80.
-
(1999)
Trends Genet
, vol.15
, pp. 74-80
-
-
Culbertson, M.R.1
-
4
-
-
0032526946
-
Binary specification of nonsense codons by splicing and cytoplasmic translation
-
Thermann R, Neu-Yilik G, Deters A, et al. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J. 1998;17:3484-3494.
-
(1998)
EMBO J
, vol.17
, pp. 3484-3494
-
-
Thermann, R.1
Neu-Yilik, G.2
Deters, A.3
-
5
-
-
0031870169
-
Intron function in the nonsense-mediated decay of globin mRNA: Indications that pre-mRNA splicing in the nucleus can influence MRNA translation in the cytoplasm
-
Zhang J, Sun X, Qian Y, Maquat LE. Intron function in the nonsense-mediated decay of globin mRNA: indications that pre-mRNA splicing in the nucleus can influence MRNA translation in the cytoplasm. RNA. 1998;4:801-815.
-
(1998)
RNA
, vol.4
, pp. 801-815
-
-
Zhang, J.1
Sun, X.2
Qian, Y.3
Maquat, L.E.4
-
6
-
-
0031893570
-
Fibrinogen structure and fibrin clot assembly
-
Mosesson MW. Fibrinogen structure and fibrin clot assembly. Semin Thromb Hemost. 1998;24:169-174.
-
(1998)
Semin Thromb Hemost
, vol.24
, pp. 169-174
-
-
Mosesson, M.W.1
-
7
-
-
0021118122
-
Fibrinogen and fibrin
-
Doolittle RF. Fibrinogen and fibrin. Annu Rev Biochem. 1984;53:195-229.
-
(1984)
Annu Rev Biochem
, vol.53
, pp. 195-229
-
-
Doolittle, R.F.1
-
8
-
-
0022454707
-
Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization
-
Marino MW, Fuller GM, Elder FF. Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization. Cytogenet Cell Genet. 1986;42:36-41.
-
(1986)
Cytogenet Cell Genet
, vol.42
, pp. 36-41
-
-
Marino, M.W.1
Fuller, G.M.2
Elder, F.F.3
-
9
-
-
0000751868
-
Evolution and organization of the fibrinogen locus on chromosome 4: Gene duplication accompanied by transposition and inversion
-
Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci U S A. 1985;8:2344-2348.
-
(1985)
Proc Natl Acad Sci U S A
, vol.8
, pp. 2344-2348
-
-
Kant, J.A.1
Fornace A.J., Jr.2
Saxe, D.3
Simon, M.I.4
McBride, O.W.5
Crabtree, G.R.6
-
10
-
-
0028010815
-
Overexpression of any fibrinogen chain by Hep G2 cells specifically elevates the expression of the other two chains
-
Roy S, Overton O, Redman C. Overexpression of any fibrinogen chain by Hep G2 cells specifically elevates the expression of the other two chains. J Biol Chem. 1994;269:691-695.
-
(1994)
J Biol Chem
, vol.269
, pp. 691-695
-
-
Roy, S.1
Overton, O.2
Redman, C.3
-
11
-
-
0025801852
-
Assembly and secretion of recombinant human fibrinogen
-
Roy SN, Procyk R, Kudryk BJ, Redman CM. Assembly and secretion of recombinant human fibrinogen. J Biol Chem. 1991;266:4758-4763.
-
(1991)
J Biol Chem
, vol.266
, pp. 4758-4763
-
-
Roy, S.N.1
Procyk, R.2
Kudryk, B.J.3
Redman, C.M.4
-
12
-
-
0034651759
-
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
-
Duga S, Asselta R, Santagostino E, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95:1336-1341.
-
(2000)
Blood
, vol.95
, pp. 1336-1341
-
-
Duga, S.1
Asselta, R.2
Santagostino, E.3
-
15
-
-
0343603909
-
Bleeding and thrombosis in 55 patients with inherited afibrinogenemia
-
Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenemia. Br J Haematol. 1999;107:204-206.
-
(1999)
Br J Haematol
, vol.107
, pp. 204-206
-
-
Lak, M.1
Keihani, M.2
Elahi, F.3
Peyvandi, F.4
Mannucci, P.M.5
-
16
-
-
0018887670
-
Congenital afibrinogenemia in 10 offspring of uncle-niece marriages
-
Fried K, Kaufman S. Congenital afibrinogenemia in 10 offspring of uncle-niece marriages. Clin Genet. 1980;18:223-227.
-
(1980)
Clin Genet
, vol.18
, pp. 223-227
-
-
Fried, K.1
Kaufman, S.2
-
17
-
-
0024533298
-
Congenital hypofibrinogenemia in pregnancy
-
Goodwin TM. Congenital hypofibrinogenemia in pregnancy. Obstet Gynecol Surv. 1989;44:157-161.
-
(1989)
Obstet Gynecol Surv
, vol.44
, pp. 157-161
-
-
Goodwin, T.M.1
-
18
-
-
0025822494
-
Congenital afibrinogenaemia and successful pregnancy outcome: Case report
-
Trehan AK, Fergusson IL. Congenital afibrinogenaemia and successful pregnancy outcome: case report. Br J Obstet Gynaecol. 1991;98:722-724.
-
(1991)
Br J Obstet Gynaecol
, vol.98
, pp. 722-724
-
-
Trehan, A.K.1
Fergusson, I.L.2
-
20
-
-
0034214836
-
Mutations in the fibrinogen Aα gene account for the majority of cases of congenital afibrinogenemia
-
Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen Aα gene account for the majority of cases of congenital afibrinogenemia. Blood. 2000;96:149-152.
-
(2000)
Blood
, vol.96
, pp. 149-152
-
-
Neerman-Arbez, M.1
De Moerloose, P.2
Bridel, C.3
-
21
-
-
0035869377
-
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T
-
Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T. Blood. 2001;97:1879-1881.
-
(2001)
Blood
, vol.97
, pp. 1879-1881
-
-
Attanasio, C.1
De Moerloose, P.2
Antonarakis, S.E.3
Morris, M.A.4
Neerman-Arbez, M.5
-
22
-
-
0034662164
-
Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia
-
Fellowes AP, Brennan SO, Holme R, Stormorken H, Brosstad FR, George PM. Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia. Blood. 2000;96:773-775.
-
(2000)
Blood
, vol.96
, pp. 773-775
-
-
Fellowes, A.P.1
Brennan, S.O.2
Holme, R.3
Stormorken, H.4
Brosstad, F.R.5
George, P.M.6
-
23
-
-
0033936548
-
A case of congenital afibrinogenemia: Fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene
-
Iida H, Ishii E, Nakahara M, et al. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. Thromb Haemost. 2000;84:49-53.
-
(2000)
Thromb Haemost
, vol.84
, pp. 49-53
-
-
Iida, H.1
Ishii, E.2
Nakahara, M.3
-
24
-
-
0034307666
-
Afibrinogenemia: First identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation
-
Asselta R, Duga S, Simonic T, et al. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood. 2000;96:2496-2500.
-
(2000)
Blood
, vol.96
, pp. 2496-2500
-
-
Asselta, R.1
Duga, S.2
Simonic, T.3
-
25
-
-
0034307690
-
A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing
-
Margaglione M, Santacroce R, Colaizzo D, et al. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. Blood. 2000;96:2501-2505.
-
(2000)
Blood
, vol.96
, pp. 2501-2505
-
-
Margaglione, M.1
Santacroce, R.2
Colaizzo, D.3
-
26
-
-
17744397106
-
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: Novel truncating mutations in the FGA and FGG genes
-
Neerman-Arbez M, de Moerloose P, Honsberger A, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet. 2001;108:237-240.
-
(2001)
Hum Genet
, vol.108
, pp. 237-240
-
-
Neerman-Arbez, M.1
De Moerloose, P.2
Honsberger, A.3
-
27
-
-
0025237827
-
Regulation of fibrinogen assembly: Transfection of Hep G2 cells with B beta cDNA specifically enhances synthesis of the three component chains of fibrinogen
-
Roy SN, Mukhopadhyay G, Redman CM. Regulation of fibrinogen assembly: transfection of Hep G2 cells with B beta cDNA specifically enhances synthesis of the three component chains of fibrinogen. J Biol Chem. 1990;265:6389-6393.
-
(1990)
J Biol Chem
, vol.265
, pp. 6389-6393
-
-
Roy, S.N.1
Mukhopadhyay, G.2
Redman, C.M.3
-
28
-
-
0025801852
-
Assembly and secretion of recombinant human fibrinogen
-
Roy SN, Procyk R, Kudryk BJ, Redman CM. Assembly and secretion of recombinant human fibrinogen. J Biol Chem. 1991;266:4758-4763.
-
(1991)
J Biol Chem
, vol.266
, pp. 4758-4763
-
-
Roy, S.N.1
Procyk, R.2
Kudryk, B.J.3
Redman, C.M.4
-
29
-
-
0026713350
-
Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma
-
Cattaneo M, Bettega D, Lombardi R, Lecchi A, Mannucci PM. Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma. Br J Haematol. 1992;82:388-390.
-
(1992)
Br J Haematol
, vol.82
, pp. 388-390
-
-
Cattaneo, M.1
Bettega, D.2
Lombardi, R.3
Lecchi, A.4
Mannucci, P.M.5
-
30
-
-
0035880859
-
Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein
-
Menegatti M, Asselta R, Duga S, et al. Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein. Thromb Res. 2001;103:299-307.
-
(2001)
Thromb Res
, vol.103
, pp. 299-307
-
-
Menegatti, M.1
Asselta, R.2
Duga, S.3
-
31
-
-
0343681597
-
Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA)
-
Mills KA, Even D, Murray JC. Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA). Hum Mol Genet. 1992;1:779.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 779
-
-
Mills, K.A.1
Even, D.2
Murray, J.C.3
-
32
-
-
0021709808
-
The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter
-
Humphries SE, Imam AM, Robbins TP, et al. The identification of a DNA polymorphism of the alpha fibrinogen gene, and the regional assignment of the human fibrinogen genes to 4q26-qter. Hum Genet. 1984;68:148-153.
-
(1984)
Hum Genet
, vol.68
, pp. 148-153
-
-
Humphries, S.E.1
Imam, A.M.2
Robbins, T.P.3
-
33
-
-
0025982062
-
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products
-
Marchuk D, Drumm M, Saulino A, Collins FS. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res. 1991;19:1154.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1154
-
-
Marchuk, D.1
Drumm, M.2
Saulino, A.3
Collins, F.S.4
-
34
-
-
0034426034
-
Hot-stop PCR: A simple and general assay for linear quantitation of allele ratios
-
Uejima H, Lee MP, Cui H, Feinberg AP. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet. 2000;25:375-376.
-
(2000)
Nat Genet
, vol.25
, pp. 375-376
-
-
Uejima, H.1
Lee, M.P.2
Cui, H.3
Feinberg, A.P.4
-
35
-
-
0014949207
-
Cleavage of structural proteins during the assembly of the head of bacteriophage T4
-
Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970;227:680-685.
-
(1970)
Nature
, vol.227
, pp. 680-685
-
-
Laemmli, U.K.1
-
36
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet. 1988;78:151-155.
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
37
-
-
0027407911
-
The skipping of constitutive exons in vivo induced by nonsense mutations
-
Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. The skipping of constitutive exons in vivo induced by nonsense mutations. Science. 1993;259:680-683.
-
(1993)
Science
, vol.259
, pp. 680-683
-
-
Dietz, H.C.1
Valle, D.2
Francomano, C.A.3
Kendzior R.J., Jr.4
Pyeritz, R.E.5
Cutting, G.R.6
-
38
-
-
0028136599
-
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
-
Dietz HC, Kendzior RJ Jr. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet. 1994;8:183-188.
-
(1994)
Nat Genet
, vol.8
, pp. 183-188
-
-
Dietz, H.C.1
Kendzior R.J., Jr.2
-
39
-
-
0031046735
-
Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells
-
Zhang J, Maquat LE. Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J. 1997;16:826-833.
-
(1997)
EMBO J
, vol.16
, pp. 826-833
-
-
Zhang, J.1
Maquat, L.E.2
-
40
-
-
0034667531
-
Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation
-
Romao L, Inacio A, Santos S, et al. Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation. Blood. 2000;96:2895-2901.
-
(2000)
Blood
, vol.96
, pp. 2895-2901
-
-
Romao, L.1
Inacio, A.2
Santos, S.3
-
41
-
-
0026677580
-
Carboxy-terminal-extended variant of the human fibrinogen α subunit: A novel exon conferring marked homology to β and β subunits
-
Fu Y, Weissbach L, Plant PW, et al. Carboxy-terminal-extended variant of the human fibrinogen α subunit: a novel exon conferring marked homology to β and β subunits. Biochemistry. 1992;31:11968-11972.
-
(1992)
Biochemistry
, vol.31
, pp. 11968-11972
-
-
Fu, Y.1
Weissbach, L.2
Plant, P.W.3
-
42
-
-
0003052304
-
Recombinant fibrinogen in clot formation
-
Gorkun OV, Lord ST. Recombinant fibrinogen in clot formation [abstract]. Fibrinolysis. 1996;10:7.
-
(1996)
Fibrinolysis
, vol.10
, pp. 7
-
-
Gorkun, O.V.1
Lord, S.T.2
-
43
-
-
0029864510
-
The assembly of human fibrinogen: The role of the amino-terminal and coiled-coil regions of the three chains in the formation of the alphagamma and betagamma heterodimers and alphabetagamma half-molecules
-
Xu WF, Chung DW, Davie EW. The assembly of human fibrinogen: the role of the amino-terminal and coiled-coil regions of the three chains in the formation of the alphagamma and betagamma heterodimers and alphabetagamma half-molecules. J Biol Chem. 1996;271:27948-27953.
-
(1996)
J Biol Chem
, vol.271
, pp. 27948-27953
-
-
Xu, W.F.1
Chung, D.W.2
Davie, E.W.3
-
44
-
-
0033882702
-
Fibrinogen Brescia: Hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly→Arg mutation
-
Brennan SO, Wyatt J, Medicina D, Callea F, George PM. Fibrinogen Brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly→Arg mutation. Am J Pathol. 2000;157:189-196.
-
(2000)
Am J Pathol
, vol.157
, pp. 189-196
-
-
Brennan, S.O.1
Wyatt, J.2
Medicina, D.3
Callea, F.4
George, P.M.5
-
45
-
-
0034968658
-
Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease
-
Medicina D, Fabbretti G, Brennan SO, George PM, Kudryk B, Callea F. Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease. Ann N Y Acad Sci. 2001;936:522-525.
-
(2001)
Ann N Y Acad Sci
, vol.936
, pp. 522-525
-
-
Medicina, D.1
Fabbretti, G.2
Brennan, S.O.3
George, P.M.4
Kudryk, B.5
Callea, F.6
|