-
1
-
-
0023216744
-
A new mutation in IVS-1 of the human β globin gene causing β thalassemia due to abnormal splicing
-
Atweh, G.F., Wong, C., Reed, R., Antonarakis, S.E., Zhu, D., Ghosh, P.K., Maniatis, T., Forget, B.G., and Kazazian Jr., H.H. 1987. A new mutation in IVS-1 of the human β globin gene causing β thalassemia due to abnormal splicing. Blood 70: 147-151.
-
(1987)
Blood
, vol.70
, pp. 147-151
-
-
Atweh, G.F.1
Wong, C.2
Reed, R.3
Antonarakis, S.E.4
Zhu, D.5
Ghosh, P.K.6
Maniatis, T.7
Forget, B.G.8
Kazazian Jr., H.H.9
-
2
-
-
0036784630
-
In vivo kinetics of mRNA splicing and transport in mammalian cells
-
Audibert, A., Weil, D., and Dautry, F. 2002. In vivo kinetics of mRNA splicing and transport in mammalian cells. Mol. Cell. Biol. 22: 6706-6718.
-
(2002)
Mol. Cell. Biol
, vol.22
, pp. 6706-6718
-
-
Audibert, A.1
Weil, D.2
Dautry, F.3
-
3
-
-
0028895417
-
Exon recognition in vertebrate splicing
-
Berget, S.M. 1995. Exon recognition in vertebrate splicing. J. Biol. Chem. 270: 2411-2414.
-
(1995)
J. Biol. Chem
, vol.270
, pp. 2411-2414
-
-
Berget, S.M.1
-
4
-
-
0024117723
-
Cis and trans mRNA splicing in C. elegans
-
Blumenthal, T. and Thomas, J. 1988. Cis and trans mRNA splicing in C. elegans. Trends Genet. 4: 305-308.
-
(1988)
Trends Genet
, vol.4
, pp. 305-308
-
-
Blumenthal, T.1
Thomas, J.2
-
5
-
-
0042388694
-
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA transsplicing
-
Chao, H., Mansfield, S.G., Bartel, R.C., Hiriyanna, S., Mitchell, L.G., Garcia-Blanco, M.A., and Walsh, C.E. 2003. Phenotype correction of hemophilia A mice by spliceosome-mediated RNA transsplicing. Nat. Med. 9: 1015-1019.
-
(2003)
Nat. Med
, vol.9
, pp. 1015-1019
-
-
Chao, H.1
Mansfield, S.G.2
Bartel, R.C.3
Hiriyanna, S.4
Mitchell, L.G.5
Garcia-Blanco, M.A.6
Walsh, C.E.7
-
6
-
-
4143121075
-
Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India
-
Colah, R., Nadkarni, A., Gorakshakar, A., Phanasgaonkar, S., Surve, R., Subramaniam, P.G., Bondge, N., Pujari, K., Ghosh, K., and Mohanty, D. 2004. Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells Mol. Dis. 33: 153-157.
-
(2004)
Blood Cells Mol. Dis
, vol.33
, pp. 153-157
-
-
Colah, R.1
Nadkarni, A.2
Gorakshakar, A.3
Phanasgaonkar, S.4
Surve, R.5
Subramaniam, P.G.6
Bondge, N.7
Pujari, K.8
Ghosh, K.9
Mohanty, D.10
-
7
-
-
0041013167
-
Inefficient processing impairs release of RNA from the site of transcription
-
Custodio, N., Carmo-Fonseca, M., Geraghty, F., Pereira, H.S., Grosveld, F., and Antoniou, M. 1999. Inefficient processing impairs release of RNA from the site of transcription. EMBO J. 18: 2855-2866.
-
(1999)
EMBO J
, vol.18
, pp. 2855-2866
-
-
Custodio, N.1
Carmo-Fonseca, M.2
Geraghty, F.3
Pereira, H.S.4
Grosveld, F.5
Antoniou, M.6
-
8
-
-
0043175257
-
Development of spliceosome-mediated RNA trans-splicing (SMaRT trade mark) for the correction of inherited skin diseases
-
Dallinger, G., Puttaraju, M., Mitchell, L.G., Yancey, K.B., Yee, C., Klausegger, A., Hintner, H., and Bauer, J.W. 2003. Development of spliceosome-mediated RNA trans-splicing (SMaRT trade mark) for the correction of inherited skin diseases. Exp. Dermatol. 12: 37-46.
-
(2003)
Exp. Dermatol
, vol.12
, pp. 37-46
-
-
Dallinger, G.1
Puttaraju, M.2
Mitchell, L.G.3
Yancey, K.B.4
Yee, C.5
Klausegger, A.6
Hintner, H.7
Bauer, J.W.8
-
9
-
-
0036493774
-
Abnormally spliced bglobin mRNAs: A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay
-
Danckwardt, S., Neu-Yilik, G., Thermann, R., Frede, U., Hentze, M.W., and Kulozik, A.E. 2002. Abnormally spliced bglobin mRNAs: A single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood 99: 1811-1816.
-
(2002)
Blood
, vol.99
, pp. 1811-1816
-
-
Danckwardt, S.1
Neu-Yilik, G.2
Thermann, R.3
Frede, U.4
Hentze, M.W.5
Kulozik, A.E.6
-
10
-
-
18844443165
-
Spectrum of β-globin gene mutations among thalassemia patients in the West Bank region of Palestine
-
Darwish, H.M., El-Khatib, F.F., and Ayesh, S. 2005. Spectrum of β-globin gene mutations among thalassemia patients in the West Bank region of Palestine. Hemoglobin 29: 119-132.
-
(2005)
Hemoglobin
, vol.29
, pp. 119-132
-
-
Darwish, H.M.1
El-Khatib, F.F.2
Ayesh, S.3
-
11
-
-
0026281318
-
A trans-splicing model for the expression of the tripartite nad5 gene in wheat and maize mitochondria
-
de Souza, A.P., Jubier, M.F., Delcher, E., Lancelin, D., and Lejeune, B. 1991. A trans-splicing model for the expression of the tripartite nad5 gene in wheat and maize mitochondria. Plant Cell 3: 1363-1378.
-
(1991)
Plant Cell
, vol.3
, pp. 1363-1378
-
-
de Souza, A.P.1
Jubier, M.F.2
Delcher, E.3
Lancelin, D.4
Lejeune, B.5
-
12
-
-
0028971968
-
The frequency of 14 β-thalassemia mutations in the Arab populations
-
el-Hazmi, M.A., Warsy, A.S., and al-Swailem, A.R. 1995. The frequency of 14 β-thalassemia mutations in the Arab populations. Hemoglobin 19: 353-360.
-
(1995)
Hemoglobin
, vol.19
, pp. 353-360
-
-
el-Hazmi, M.A.1
Warsy, A.S.2
al-Swailem, A.R.3
-
13
-
-
0037155267
-
Intergenic mRNA molecules resulting from trans-splicing
-
Finta, C. and Zaphiropoulos, P.G. 2002. Intergenic mRNA molecules resulting from trans-splicing. J. Biol. Chem. 277: 5882-5890.
-
(2002)
J. Biol. Chem
, vol.277
, pp. 5882-5890
-
-
Finta, C.1
Zaphiropoulos, P.G.2
-
14
-
-
0030023834
-
Moderate reduction of bglobin gene transcript by a novel mutation in the 5′-untranslated region: A study of its interaction with other genotypes in two families
-
Ho, P.J., Rochette, J., Fisher, C.A., Wonke, B., Jarvis, M.K., Yardumian, A., and Thein, S.L. 1996. Moderate reduction of bglobin gene transcript by a novel mutation in the 5′-untranslated region: A study of its interaction with other genotypes in two families. Blood 87: 1170-1178.
-
(1996)
Blood
, vol.87
, pp. 1170-1178
-
-
Ho, P.J.1
Rochette, J.2
Fisher, C.A.3
Wonke, B.4
Jarvis, M.K.5
Yardumian, A.6
Thein, S.L.7
-
15
-
-
0000420850
-
A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin
-
Ingram, V.M. 1956. A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 178: 792-794.
-
(1956)
Nature
, vol.178
, pp. 792-794
-
-
Ingram, V.M.1
-
16
-
-
0001665613
-
Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins
-
Ingram, V.M. 1959. Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. Biochim. Biophys. Acta 36: 402-411.
-
(1959)
Biochim. Biophys. Acta
, vol.36
, pp. 402-411
-
-
Ingram, V.M.1
-
17
-
-
0021399557
-
Molecular characterization of seven β-thalassemia mutations in Asian Indians
-
Kazazian Jr., H.H., Orkin, S.H., Antonarakis, S.E., Sexton, J.P., Boehm, C.D., Goff, S.C., and Waber, P.G. 1984. Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J. 3: 593-596.
-
(1984)
EMBO J
, vol.3
, pp. 593-596
-
-
Kazazian Jr., H.H.1
Orkin, S.H.2
Antonarakis, S.E.3
Sexton, J.P.4
Boehm, C.D.5
Goff, S.C.6
Waber, P.G.7
-
18
-
-
0034834346
-
Promiscuity of pre-mRNA spliceosome-mediated trans-splicing: A problem for gene therapy?
-
Kikumori, T., Cote, G.J., and Gagel, R.F. 2001. Promiscuity of pre-mRNA spliceosome-mediated trans-splicing: A problem for gene therapy? Hum. Gene Ther. 12: 1429-1441.
-
(2001)
Hum. Gene Ther
, vol.12
, pp. 1429-1441
-
-
Kikumori, T.1
Cote, G.J.2
Gagel, R.F.3
-
19
-
-
0024284721
-
A nicked group II intron and trans-splicing in liverwort, Marchantia polymorpha, chloroplasts
-
Kohchi, T., Umesono, K., Ogura, Y., Komine, Y., Nakahigashi, K., Komano, T., Yamada, Y., Ozeki, H., and Ohyama, K. 1988. A nicked group II intron and trans-splicing in liverwort, Marchantia polymorpha, chloroplasts. Nucleic Acids Res. 16: 10025-10036.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 10025-10036
-
-
Kohchi, T.1
Umesono, K.2
Ogura, Y.3
Komine, Y.4
Nakahigashi, K.5
Komano, T.6
Yamada, Y.7
Ozeki, H.8
Ohyama, K.9
-
20
-
-
3042597832
-
A recombinant human hemoglobin with anti-sickling properties greater than fetal hemoglobin
-
Levasseur, D.N., Ryan, T.M., Reilly, M.P., McCune, S.L., Asakura, T., and Townes, T.M. 2004. A recombinant human hemoglobin with anti-sickling properties greater than fetal hemoglobin. J. Biol. Chem. 279: 27518-27524.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 27518-27524
-
-
Levasseur, D.N.1
Ryan, T.M.2
Reilly, M.P.3
McCune, S.L.4
Asakura, T.5
Townes, T.M.6
-
21
-
-
0029737855
-
A nuclear cap-binding complex facilitates association of U1 snRNP with the cap-proximal 5′-splice site
-
Lewis, J.D., Izaurralde, E., Jarmolowski, A., McGuigan, C., and Mattaj, I.W. 1996. A nuclear cap-binding complex facilitates association of U1 snRNP with the cap-proximal 5′-splice site. Genes & Dev. 10: 1683-1698.
-
(1996)
Genes & Dev
, vol.10
, pp. 1683-1698
-
-
Lewis, J.D.1
Izaurralde, E.2
Jarmolowski, A.3
McGuigan, C.4
Mattaj, I.W.5
-
22
-
-
0036137663
-
Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosomemediated RNA trans-splicing
-
Liu, X., Jiang, Q., Mansfield, S.G., Puttaraju, M., Zhang, Y., Zhou, W., Cohn, J.A., Garcia-Blanco, M.A., Mitchell, L.G., and Engelhardt, J.F. 2002. Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosomemediated RNA trans-splicing. Nat. Biotechnol. 20: 47-52.
-
(2002)
Nat. Biotechnol
, vol.20
, pp. 47-52
-
-
Liu, X.1
Jiang, Q.2
Mansfield, S.G.3
Puttaraju, M.4
Zhang, Y.5
Zhou, W.6
Cohn, J.A.7
Garcia-Blanco, M.A.8
Mitchell, L.G.9
Engelhardt, J.F.10
-
23
-
-
24944551962
-
Spliceosome-mediated RNA trans-splicing with recombinant adeno-associated virus partially restores cystic fibrosis transmembrane conductance regulator function to polarized human cystic fibrosis airway epithelial cells
-
Liu, X., Luo, M., Zhang, L.N., Yan, Z., Zak, R., Ding, W., Mansfield, S.G., Mitchell, L.G., and Engelhardt, J.F. 2005. Spliceosome-mediated RNA trans-splicing with recombinant adeno-associated virus partially restores cystic fibrosis transmembrane conductance regulator function to polarized human cystic fibrosis airway epithelial cells. Hum. Gene Ther. 16: 1116-1123.
-
(2005)
Hum. Gene Ther
, vol.16
, pp. 1116-1123
-
-
Liu, X.1
Luo, M.2
Zhang, L.N.3
Yan, Z.4
Zak, R.5
Ding, W.6
Mansfield, S.G.7
Mitchell, L.G.8
Engelhardt, J.F.9
-
24
-
-
0033674357
-
Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing
-
Mansfield, S.G., Kole, J., Puttaraju, M., Yang, C.C., Garcia-Blanco, M.A., Cohn, J.A., and Mitchell, L.G. 2000. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing. Gene Ther. 7: 1885-1895.
-
(2000)
Gene Ther
, vol.7
, pp. 1885-1895
-
-
Mansfield, S.G.1
Kole, J.2
Puttaraju, M.3
Yang, C.C.4
Garcia-Blanco, M.A.5
Cohn, J.A.6
Mitchell, L.G.7
-
25
-
-
0141743742
-
5′-exon replacement and repair by spliceosome-mediated RNA trans-splicing
-
Mansfield, S.G., Clark, R.H., Puttaraju, M., Kole, J., Cohn, J.A., Mitchell, L.G., and Garcia-Blanco, M.A. 2003. 5′-exon replacement and repair by spliceosome-mediated RNA trans-splicing. RNA 9: 1290-1297.
-
(2003)
RNA
, vol.9
, pp. 1290-1297
-
-
Mansfield, S.G.1
Clark, R.H.2
Puttaraju, M.3
Kole, J.4
Cohn, J.A.5
Mitchell, L.G.6
Garcia-Blanco, M.A.7
-
26
-
-
19444368979
-
Nonsense-mediated mRNA decay in mammals
-
Maquat, L.E. 2005. Nonsense-mediated mRNA decay in mammals. J. Cell Sci. 118: 1773-1776.
-
(2005)
J. Cell Sci
, vol.118
, pp. 1773-1776
-
-
Maquat, L.E.1
-
27
-
-
0021092830
-
Conservation of RNA secondary structures in two intron families including mitochondrial-, chloroplast-and nuclear-encoded members
-
Michel, F. and Dujon, B. 1983. Conservation of RNA secondary structures in two intron families including mitochondrial-, chloroplast-and nuclear-encoded members. EMBO J. 2: 33-38.
-
(1983)
EMBO J
, vol.2
, pp. 33-38
-
-
Michel, F.1
Dujon, B.2
-
28
-
-
0021503474
-
Identification of a small RNA containing the trypanosome spliced leader: A donor of shared 5′ sequences of trypanosomatid mRNAs?
-
Milhausen, M., Nelson, R.G., Sather, S., Selkirk, M., and Agabian, N. 1984. Identification of a small RNA containing the trypanosome spliced leader: A donor of shared 5′ sequences of trypanosomatid mRNAs? Cell 38: 721-729.
-
(1984)
Cell
, vol.38
, pp. 721-729
-
-
Milhausen, M.1
Nelson, R.G.2
Sather, S.3
Selkirk, M.4
Agabian, N.5
-
29
-
-
11244318660
-
Gene transfer-mediated pre-mRNA segmental trans-splicing as a strategy to deliver intracellular toxins for cancer therapy
-
Nakayama, K., Pergolizzi, R.G., and Crystal, R.G. 2005. Gene transfer-mediated pre-mRNA segmental trans-splicing as a strategy to deliver intracellular toxins for cancer therapy. Cancer Res. 65: 254-263.
-
(2005)
Cancer Res
, vol.65
, pp. 254-263
-
-
Nakayama, K.1
Pergolizzi, R.G.2
Crystal, R.G.3
-
30
-
-
70449309280
-
Structure of hemoglobin
-
Perutz, M.F. 1960. Structure of hemoglobin. Brookhaven Symp. Biol. 13: 165-183.
-
(1960)
Brookhaven Symp. Biol
, vol.13
, pp. 165-183
-
-
Perutz, M.F.1
-
31
-
-
0021343093
-
Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia?
-
Powars, D.R., Weiss, J.N., Chan, L.S., and Schroeder, W.A. 1984. Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia? Blood 63: 921-926.
-
(1984)
Blood
, vol.63
, pp. 921-926
-
-
Powars, D.R.1
Weiss, J.N.2
Chan, L.S.3
Schroeder, W.A.4
-
32
-
-
0032993842
-
Spliceosome-mediated RNA trans-splicing as a tool for gene therapy
-
Puttaraju, M., Jamison, S.F., Mansfield, S.G., Garcia-Blanco, M.A., and Mitchell, L.G. 1999. Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat. Biotechnol. 17: 246-252.
-
(1999)
Nat. Biotechnol
, vol.17
, pp. 246-252
-
-
Puttaraju, M.1
Jamison, S.F.2
Mansfield, S.G.3
Garcia-Blanco, M.A.4
Mitchell, L.G.5
-
33
-
-
0034889309
-
Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing
-
Puttaraju, M., DiPasquale, J., Baker, C.C., Mitchell, L.G., and Garcia-Blanco, M.A. 2001. Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing. Mol. Ther. 4: 105-114.
-
(2001)
Mol. Ther
, vol.4
, pp. 105-114
-
-
Puttaraju, M.1
DiPasquale, J.2
Baker, C.C.3
Mitchell, L.G.4
Garcia-Blanco, M.A.5
-
34
-
-
17844367842
-
Determinants of the inherent strength of human 5′ splice sites
-
Roca, X., Sachidanandam, R., and Krainer, A.R. 2005. Determinants of the inherent strength of human 5′ splice sites. RNA 11: 683-698.
-
(2005)
RNA
, vol.11
, pp. 683-698
-
-
Roca, X.1
Sachidanandam, R.2
Krainer, A.R.3
-
35
-
-
27344453374
-
Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: Implications for tauopathies
-
Rodriguez-Martin, T., Garcia-Blanco, M.A., Mansfield, S.G., Grover, A.C., Hutton, M., Yu, Q., Zhou, J., Anderton, B.H., and Gallo, J.M. 2005. Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: Implications for tauopathies. Proc. Natl. Acad. Sci. 102: 15659-15664.
-
(2005)
Proc. Natl. Acad. Sci
, vol.102
, pp. 15659-15664
-
-
Rodriguez-Martin, T.1
Garcia-Blanco, M.A.2
Mansfield, S.G.3
Grover, A.C.4
Hutton, M.5
Yu, Q.6
Zhou, J.7
Anderton, B.H.8
Gallo, J.M.9
-
36
-
-
0027987902
-
Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing
-
Sullenger, B.A. and Cech, T.R. 1994. Ribozyme-mediated repair of defective mRNA by targeted, trans-splicing. Nature 371: 619-622.
-
(1994)
Nature
, vol.371
, pp. 619-622
-
-
Sullenger, B.A.1
Cech, T.R.2
-
37
-
-
4043179784
-
Trans-splicing correction of CD40 ligand deficiency resulting in naturally regulated correction of a murine model of hyper-IgM X-linked immunodeficiency
-
Tahara, M., Pergolizzi, R.G., Kobayashi, H., Krause, A., and Crystal, R.G. 2004. Trans-splicing correction of CD40 ligand deficiency resulting in naturally regulated correction of a murine model of hyper-IgM X-linked immunodeficiency. Nat. Med. 10: 835-841.
-
(2004)
Nat. Med
, vol.10
, pp. 835-841
-
-
Tahara, M.1
Pergolizzi, R.G.2
Kobayashi, H.3
Krause, A.4
Crystal, R.G.5
-
38
-
-
0020620321
-
Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
-
Treisman, R., Orkin, S.H., and Maniatis, T. 1983. Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes. Nature 302: 591-596.
-
(1983)
Nature
, vol.302
, pp. 591-596
-
-
Treisman, R.1
Orkin, S.H.2
Maniatis, T.3
-
39
-
-
0018247599
-
Coincidence of the promoter and capped 5′ terminus of RNA from the adenovirus 2 major late transcription unit
-
Ziff, E.B. and Evans, R.M. 1978. Coincidence of the promoter and capped 5′ terminus of RNA from the adenovirus 2 major late transcription unit. Cell 15: 1463-1475.
-
(1978)
Cell
, vol.15
, pp. 1463-1475
-
-
Ziff, E.B.1
Evans, R.M.2
|