-
1
-
-
42649100978
-
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
-
Blewitt M.E., Gendrel A.V., Pang Z., Sparrow D.B., Whitelaw N., Craig J.M., Apedaile A., Hilton D.J., Dunwoodie S.L., Brockdorff N., Kay G.F., Whitelaw E. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat. Genet. 2008, 40:663-669.
-
(2008)
Nat. Genet.
, vol.40
, pp. 663-669
-
-
Blewitt, M.E.1
Gendrel, A.V.2
Pang, Z.3
Sparrow, D.B.4
Whitelaw, N.5
Craig, J.M.6
Apedaile, A.7
Hilton, D.J.8
Dunwoodie, S.L.9
Brockdorff, N.10
Kay, G.F.11
Whitelaw, E.12
-
2
-
-
61849151269
-
Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism
-
Lambe T., Simpson R.J., Dawson S., Bouriez-Jones T., Crockford T.L., Lepherd M., Latunde-Dada G.O., Robinson H., Raja K.B., Campagna D.R., Villarreal G., Ellory J.C., Goodnow C.C., Fleming M.D., McKie A.T., Cornall R.J. Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism. Blood 2009, 113:1805-1808.
-
(2009)
Blood
, vol.113
, pp. 1805-1808
-
-
Lambe, T.1
Simpson, R.J.2
Dawson, S.3
Bouriez-Jones, T.4
Crockford, T.L.5
Lepherd, M.6
Latunde-Dada, G.O.7
Robinson, H.8
Raja, K.B.9
Campagna, D.R.10
Villarreal, G.11
Ellory, J.C.12
Goodnow, C.C.13
Fleming, M.D.14
McKie, A.T.15
Cornall, R.J.16
-
3
-
-
10744227509
-
Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse
-
Curtin J.A., Quint E., Tsipouri V., Arkell R.M., Cattanach B., Copp A.J., Henderson D.J., Spurr N., Stanier P., Fisher E.M., Nolan P.M., Steel K.P., Brown S.D., Gray I.C., Murdoch J.N. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr. Biol. 2003, 13:1129-1133.
-
(2003)
Curr. Biol.
, vol.13
, pp. 1129-1133
-
-
Curtin, J.A.1
Quint, E.2
Tsipouri, V.3
Arkell, R.M.4
Cattanach, B.5
Copp, A.J.6
Henderson, D.J.7
Spurr, N.8
Stanier, P.9
Fisher, E.M.10
Nolan, P.M.11
Steel, K.P.12
Brown, S.D.13
Gray, I.C.14
Murdoch, J.N.15
-
4
-
-
65349191857
-
Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant
-
Rank G., Sutton R., Marshall V., Lundie R.J., Caddy J., Romeo T., Fernandez K., McCormack M.P., Cooke B.M., Foote S.J., Crabb B.S., Curtis D.J., Hilton D.J., Kile B.T., Jane S.M. Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant. Blood 2009, 113:3352-3362.
-
(2009)
Blood
, vol.113
, pp. 3352-3362
-
-
Rank, G.1
Sutton, R.2
Marshall, V.3
Lundie, R.J.4
Caddy, J.5
Romeo, T.6
Fernandez, K.7
McCormack, M.P.8
Cooke, B.M.9
Foote, S.J.10
Crabb, B.S.11
Curtis, D.J.12
Hilton, D.J.13
Kile, B.T.14
Jane, S.M.15
-
5
-
-
52949090042
-
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis
-
Smyth I., Hacking D.F., Hilton A.A., Mukhamedova N., Meikle P.J., Ellis S., Satterley K., Collinge J.E., de Graaf C.A., Bahlo M., Sviridov D., Kile B.T., Hilton D.J. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet. 2008, 4:e1000192.
-
(2008)
PLoS Genet.
, vol.4
-
-
Smyth, I.1
Hacking, D.F.2
Hilton, A.A.3
Mukhamedova, N.4
Meikle, P.J.5
Ellis, S.6
Satterley, K.7
Collinge, J.E.8
de Graaf, C.A.9
Bahlo, M.10
Sviridov, D.11
Kile, B.T.12
Hilton, D.J.13
-
6
-
-
0034425715
-
Genome-wide, large-scale production of mutant mice by ENU mutagenesis
-
Hrabe de Angelis M.H., Flaswinkel H., Fuchs H., Rathkolb B., Soewarto D., Marschall S., Heffner S., Pargent W., Wuensch K., Jung M., Reis A., Richter T., Alessandrini F., Jakob T., Fuchs E., Kolb H., Kremmer E., Schaeble K., Rollinski B., Roscher A., Peters C., Meitinger T., Strom T., Steckler T., Holsboer F., Klopstock T., Gekeler F., Schindewolf C., Jung T., Avraham K., Behrendt H., Ring J., Zimmer A., Schughart K., Pfeffer K., Wolf E., Balling R. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat. Genet. 2000, 25:444-447.
-
(2000)
Nat. Genet.
, vol.25
, pp. 444-447
-
-
Hrabe de Angelis, M.H.1
Flaswinkel, H.2
Fuchs, H.3
Rathkolb, B.4
Soewarto, D.5
Marschall, S.6
Heffner, S.7
Pargent, W.8
Wuensch, K.9
Jung, M.10
Reis, A.11
Richter, T.12
Alessandrini, F.13
Jakob, T.14
Fuchs, E.15
Kolb, H.16
Kremmer, E.17
Schaeble, K.18
Rollinski, B.19
Roscher, A.20
Peters, C.21
Meitinger, T.22
Strom, T.23
Steckler, T.24
Holsboer, F.25
Klopstock, T.26
Gekeler, F.27
Schindewolf, C.28
Jung, T.29
Avraham, K.30
Behrendt, H.31
Ring, J.32
Zimmer, A.33
Schughart, K.34
Pfeffer, K.35
Wolf, E.36
Balling, R.37
more..
-
7
-
-
62549105821
-
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy
-
Zhang Z., Alpert D., Francis R., Chatterjee B., Yu Q., Tansey T., Sabol S.L., Cui C., Bai Y., Koriabine M., Yoshinaga Y., Cheng J.F., Chen F., Martin J., Schackwitz W., Gunn T.M., Kramer K.L., De Jong P.J., Pennacchio L.A., Lo C.W. Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:3219-3224.
-
(2009)
Proc. Natl. Acad. Sci. U. S. A.
, vol.106
, pp. 3219-3224
-
-
Zhang, Z.1
Alpert, D.2
Francis, R.3
Chatterjee, B.4
Yu, Q.5
Tansey, T.6
Sabol, S.L.7
Cui, C.8
Bai, Y.9
Koriabine, M.10
Yoshinaga, Y.11
Cheng, J.F.12
Chen, F.13
Martin, J.14
Schackwitz, W.15
Gunn, T.M.16
Kramer, K.L.17
De Jong, P.J.18
Pennacchio, L.A.19
Lo, C.W.20
more..
-
8
-
-
74249086350
-
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin
-
Boles M.K., Wilkinson B.M., Wilming L.G., Liu B., Probst F.J., Harrow J., Grafham D., Hentges K.E., Woodward L.P., Maxwell A., Mitchell K., Risley M.D., Johnson R., Hirschi K., Lupski J.R., Funato Y., Miki H., Marin-Garcia P., Matthews L., Coffey A.J., Parker A., Hubbard T.J., Rogers J., Bradley A., Adams D.J., Justice M.J. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet. 2009, 5:e1000759.
-
(2009)
PLoS Genet.
, vol.5
-
-
Boles, M.K.1
Wilkinson, B.M.2
Wilming, L.G.3
Liu, B.4
Probst, F.J.5
Harrow, J.6
Grafham, D.7
Hentges, K.E.8
Woodward, L.P.9
Maxwell, A.10
Mitchell, K.11
Risley, M.D.12
Johnson, R.13
Hirschi, K.14
Lupski, J.R.15
Funato, Y.16
Miki, H.17
Marin-Garcia, P.18
Matthews, L.19
Coffey, A.J.20
Parker, A.21
Hubbard, T.J.22
Rogers, J.23
Bradley, A.24
Adams, D.J.25
Justice, M.J.26
more..
-
9
-
-
0025367101
-
Analysis of ENU-induced mutations at the Adh locus in Drosophila melanogaster
-
Fossett N.G., Arbour-Reily P., Kilroy G., McDaniel M., Mahmoud J., Tucker A.B., Chang S.H., Lee W.R. Analysis of ENU-induced mutations at the Adh locus in Drosophila melanogaster. Mutat. Res. 1990, 231:73-85.
-
(1990)
Mutat. Res.
, vol.231
, pp. 73-85
-
-
Fossett, N.G.1
Arbour-Reily, P.2
Kilroy, G.3
McDaniel, M.4
Mahmoud, J.5
Tucker, A.B.6
Chang, S.H.7
Lee, W.R.8
-
10
-
-
12644292903
-
Characterization of zebrafish mutants with defects in embryonic hematopoiesis
-
Ransom D.G., Haffter P., Odenthal J., Brownlie A., Vogelsang E., Kelsh R.N., Brand M., van Eeden F.J., Furutani-Seiki M., Granato M., Hammerschmidt M., Heisenberg C.P., Jiang Y.J., Kane D.A., Mullins M.C., Nusslein-Volhard C. Characterization of zebrafish mutants with defects in embryonic hematopoiesis. Development 1996, 123:311-319.
-
(1996)
Development
, vol.123
, pp. 311-319
-
-
Ransom, D.G.1
Haffter, P.2
Odenthal, J.3
Brownlie, A.4
Vogelsang, E.5
Kelsh, R.N.6
Brand, M.7
van Eeden, F.J.8
Furutani-Seiki, M.9
Granato, M.10
Hammerschmidt, M.11
Heisenberg, C.P.12
Jiang, Y.J.13
Kane, D.A.14
Mullins, M.C.15
Nusslein-Volhard, C.16
-
11
-
-
12644303221
-
The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio
-
Haffter P., Granato M., Brand M., Mullins M.C., Hammerschmidt M., Kane D.A., Odenthal J., van Eeden F.J., Jiang Y.J., Heisenberg C.P., Kelsh R.N., Furutani-Seiki M., Vogelsang E., Beuchle D., Schach U., Fabian C., Nusslein-Volhard C. The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development 1996, 123:1-36.
-
(1996)
Development
, vol.123
, pp. 1-36
-
-
Haffter, P.1
Granato, M.2
Brand, M.3
Mullins, M.C.4
Hammerschmidt, M.5
Kane, D.A.6
Odenthal, J.7
van Eeden, F.J.8
Jiang, Y.J.9
Heisenberg, C.P.10
Kelsh, R.N.11
Furutani-Seiki, M.12
Vogelsang, E.13
Beuchle, D.14
Schach, U.15
Fabian, C.16
Nusslein-Volhard, C.17
-
12
-
-
33846037745
-
A sensitized screen of N-ethyl-N-nitrosourea-mutagenized mice identifies dominant mutants predisposed to diabetic nephropathy
-
Tchekneva E.E., Rinchik E.M., Polosukhina D., Davis L.S., Kadkina V., Mohamed Y., Dunn S.R., Sharma K., Qi Z., Fogo A.B., Breyer M.D. A sensitized screen of N-ethyl-N-nitrosourea-mutagenized mice identifies dominant mutants predisposed to diabetic nephropathy. J. Am. Soc. Nephrol. 2007, 18:103-112.
-
(2007)
J. Am. Soc. Nephrol.
, vol.18
, pp. 103-112
-
-
Tchekneva, E.E.1
Rinchik, E.M.2
Polosukhina, D.3
Davis, L.S.4
Kadkina, V.5
Mohamed, Y.6
Dunn, S.R.7
Sharma, K.8
Qi, Z.9
Fogo, A.B.10
Breyer, M.D.11
-
13
-
-
48749090557
-
Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance
-
Goldsworthy M., Hugill A., Freeman H., Horner E., Shimomura K., Bogani D., Pieles G., Mijat V., Arkell R., Bhattacharya S., Ashcroft F.M., Cox R.D. Role of the transcription factor sox4 in insulin secretion and impaired glucose tolerance. Diabetes 2008, 57:2234-2244.
-
(2008)
Diabetes
, vol.57
, pp. 2234-2244
-
-
Goldsworthy, M.1
Hugill, A.2
Freeman, H.3
Horner, E.4
Shimomura, K.5
Bogani, D.6
Pieles, G.7
Mijat, V.8
Arkell, R.9
Bhattacharya, S.10
Ashcroft, F.M.11
Cox, R.D.12
-
14
-
-
67349132265
-
An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice
-
Lewis M.A., Quint E., Glazier A.M., Fuchs H., De Angelis M.H., Langford C., van Dongen S., Abreu-Goodger C., Piipari M., Redshaw N., Dalmay T., Moreno-Pelayo M.A., Enright A.J., Steel K.P. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat. Genet. 2009, 41:614-618.
-
(2009)
Nat. Genet.
, vol.41
, pp. 614-618
-
-
Lewis, M.A.1
Quint, E.2
Glazier, A.M.3
Fuchs, H.4
De Angelis, M.H.5
Langford, C.6
van Dongen, S.7
Abreu-Goodger, C.8
Piipari, M.9
Redshaw, N.10
Dalmay, T.11
Moreno-Pelayo, M.A.12
Enright, A.J.13
Steel, K.P.14
-
15
-
-
0042355276
-
Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss
-
Noben-Trauth K., Zheng Q.Y., Johnson K.R. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat. Genet. 2003, 35:21-23.
-
(2003)
Nat. Genet.
, vol.35
, pp. 21-23
-
-
Noben-Trauth, K.1
Zheng, Q.Y.2
Johnson, K.R.3
-
16
-
-
79953742752
-
Grainyhead-like 2 regulates neural tube closure and adhesion molecule expression during neural fold fusion
-
Pyrgaki C., Liu A., Niswander L. Grainyhead-like 2 regulates neural tube closure and adhesion molecule expression during neural fold fusion. Dev. Biol. 2011, 353:38-49.
-
(2011)
Dev. Biol.
, vol.353
, pp. 38-49
-
-
Pyrgaki, C.1
Liu, A.2
Niswander, L.3
-
17
-
-
79960140995
-
Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse
-
Stottmann R.W., Moran J.L., Turbe-Doan A., Driver E., Kelley M., Beier D.R. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics 2011, 188:615-624.
-
(2011)
Genetics
, vol.188
, pp. 615-624
-
-
Stottmann, R.W.1
Moran, J.L.2
Turbe-Doan, A.3
Driver, E.4
Kelley, M.5
Beier, D.R.6
-
18
-
-
84862557932
-
A novel ENU-mutation in Ankyrin-1 disrupts malaria parasite maturation in red blood cells of mice
-
Greth A., Lampkin S., Mayura-Guru P., Rodda F., Drysdale K., Roberts-Thomson M., McMorran B.J., Foote S.J., Burgio G. A novel ENU-mutation in Ankyrin-1 disrupts malaria parasite maturation in red blood cells of mice. PLoS One 2012, 7:e38999.
-
(2012)
PLoS One
, vol.7
-
-
Greth, A.1
Lampkin, S.2
Mayura-Guru, P.3
Rodda, F.4
Drysdale, K.5
Roberts-Thomson, M.6
McMorran, B.J.7
Foote, S.J.8
Burgio, G.9
-
19
-
-
79955767052
-
An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions
-
Wansleeben C., van Gurp L., Feitsma H., Kroon C., Rieter E., Verberne M., Guryev V., Cuppen E., Meijlink F. An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions. PLoS One 2011, 6:e19357.
-
(2011)
PLoS One
, vol.6
-
-
Wansleeben, C.1
van Gurp, L.2
Feitsma, H.3
Kroon, C.4
Rieter, E.5
Verberne, M.6
Guryev, V.7
Cuppen, E.8
Meijlink, F.9
-
20
-
-
80054746160
-
Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters
-
Aigner B., Rathkolb B., Klempt M., Wagner S., Michel D., Klaften M., Laufs J., Schneider B., Sedlmeier R., Hrabe de Angelis M., Wolf E. Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters. Mamm. Genome 2011, 22:495-505.
-
(2011)
Mamm. Genome
, vol.22
, pp. 495-505
-
-
Aigner, B.1
Rathkolb, B.2
Klempt, M.3
Wagner, S.4
Michel, D.5
Klaften, M.6
Laufs, J.7
Schneider, B.8
Sedlmeier, R.9
Hrabe de Angelis, M.10
Wolf, E.11
-
21
-
-
33947227522
-
Programmed anuclear cell death delimits platelet life span
-
Mason K.D., Carpinelli M.R., Fletcher J.I., Collinge J.E., Hilton A.A., Ellis S., Kelly P.N., Ekert P.G., Metcalf D., Roberts A.W., Huang D.C., Kile B.T. Programmed anuclear cell death delimits platelet life span. Cell 2007, 128:1173-1186.
-
(2007)
Cell
, vol.128
, pp. 1173-1186
-
-
Mason, K.D.1
Carpinelli, M.R.2
Fletcher, J.I.3
Collinge, J.E.4
Hilton, A.A.5
Ellis, S.6
Kelly, P.N.7
Ekert, P.G.8
Metcalf, D.9
Roberts, A.W.10
Huang, D.C.11
Kile, B.T.12
-
22
-
-
19644376762
-
An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse
-
Blewitt M.E., Vickaryous N.K., Hemley S.J., Ashe A., Bruxner T.J., Preis J.I., Arkell R., Whitelaw E. An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:7629-7634.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 7629-7634
-
-
Blewitt, M.E.1
Vickaryous, N.K.2
Hemley, S.J.3
Ashe, A.4
Bruxner, T.J.5
Preis, J.I.6
Arkell, R.7
Whitelaw, E.8
-
23
-
-
0029589914
-
A mouse model for beta 0-thalassemia
-
Yang B., Kirby S., Lewis J., Detloff P.J., Maeda N., Smithies O. A mouse model for beta 0-thalassemia. Proc. Natl. Acad. Sci. U. S. A. 1995, 92:11608-11612.
-
(1995)
Proc. Natl. Acad. Sci. U. S. A.
, vol.92
, pp. 11608-11612
-
-
Yang, B.1
Kirby, S.2
Lewis, J.3
Detloff, P.J.4
Maeda, N.5
Smithies, O.6
-
24
-
-
0025946254
-
Direct in vivo biotinylation of erythrocytes as an assay for red cell survival studies
-
Hoffmann-Fezer G., Maschke H., Zeitler H.J., Gais P., Heger W., Ellwart J., Thierfelder S. Direct in vivo biotinylation of erythrocytes as an assay for red cell survival studies. Ann. Hematol. 1991, 63:214-217.
-
(1991)
Ann. Hematol.
, vol.63
, pp. 214-217
-
-
Hoffmann-Fezer, G.1
Maschke, H.2
Zeitler, H.J.3
Gais, P.4
Heger, W.5
Ellwart, J.6
Thierfelder, S.7
-
25
-
-
0029045603
-
Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells
-
Ciavatta D.J., Ryan T.M., Farmer S.C., Townes T.M. Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A. 1995, 92:9259-9263.
-
(1995)
Proc. Natl. Acad. Sci. U. S. A.
, vol.92
, pp. 9259-9263
-
-
Ciavatta, D.J.1
Ryan, T.M.2
Farmer, S.C.3
Townes, T.M.4
-
26
-
-
0027417591
-
Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene
-
Shehee W.R., Oliver P., Smithies O. Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene. Proc. Natl. Acad. Sci. U. S. A. 1993, 90:3177-3181.
-
(1993)
Proc. Natl. Acad. Sci. U. S. A.
, vol.90
, pp. 3177-3181
-
-
Shehee, W.R.1
Oliver, P.2
Smithies, O.3
-
27
-
-
20144373162
-
A humanized mouse model for a common beta0-thalassemia mutation
-
Jamsai D., Zaibak F., Khongnium W., Vadolas J., Voullaire L., Fowler K.J., Gazeas S., Fucharoen S., Williamson R., Ioannou P.A. A humanized mouse model for a common beta0-thalassemia mutation. Genomics 2005, 85:453-461.
-
(2005)
Genomics
, vol.85
, pp. 453-461
-
-
Jamsai, D.1
Zaibak, F.2
Khongnium, W.3
Vadolas, J.4
Voullaire, L.5
Fowler, K.J.6
Gazeas, S.7
Fucharoen, S.8
Williamson, R.9
Ioannou, P.A.10
-
28
-
-
70349135926
-
Imbalanced globin chain synthesis determines erythroid cell pathology in thalassemic mice
-
Srinoun K., Svasti S., Chumworathayee W., Vadolas J., Vattanaviboon P., Fucharoen S., Winichagoon P. Imbalanced globin chain synthesis determines erythroid cell pathology in thalassemic mice. Haematologica 2009, 94:1211-1219.
-
(2009)
Haematologica
, vol.94
, pp. 1211-1219
-
-
Srinoun, K.1
Svasti, S.2
Chumworathayee, W.3
Vadolas, J.4
Vattanaviboon, P.5
Fucharoen, S.6
Winichagoon, P.7
-
29
-
-
0022021842
-
Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene
-
Orkin S.H., Cheng T.C., Antonarakis S.E., Kazazian H.H. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. EMBO J. 1985, 4:453-456.
-
(1985)
EMBO J.
, vol.4
, pp. 453-456
-
-
Orkin, S.H.1
Cheng, T.C.2
Antonarakis, S.E.3
Kazazian, H.H.4
-
30
-
-
0020564074
-
A mouse model for beta-thalassemia
-
Skow L.C., Burkhart B.A., Johnson F.M., Popp R.A., Popp D.M., Goldberg S.Z., Anderson W.F., Barnett L.B., Lewis S.E. A mouse model for beta-thalassemia. Cell 1983, 34:1043-1052.
-
(1983)
Cell
, vol.34
, pp. 1043-1052
-
-
Skow, L.C.1
Burkhart, B.A.2
Johnson, F.M.3
Popp, R.A.4
Popp, D.M.5
Goldberg, S.Z.6
Anderson, W.F.7
Barnett, L.B.8
Lewis, S.E.9
-
31
-
-
0019802892
-
Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes
-
Orkin S.H., Goff S.C. Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes. J. Biol. Chem. 1981, 256:9782-9784.
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 9782-9784
-
-
Orkin, S.H.1
Goff, S.C.2
-
32
-
-
0019622712
-
Beta zero thalassemia in Sardinia is caused by a nonsense mutation
-
Trecartin R.F., Liebhaber S.A., Chang J.C., Lee K.Y., Kan Y.W., Furbetta M., Angius A., Cao A. beta zero thalassemia in Sardinia is caused by a nonsense mutation. J. Clin. Invest. 1981, 68:1012-1017.
-
(1981)
J. Clin. Invest.
, vol.68
, pp. 1012-1017
-
-
Trecartin, R.F.1
Liebhaber, S.A.2
Chang, J.C.3
Lee, K.Y.4
Kan, Y.W.5
Furbetta, M.6
Angius, A.7
Cao, A.8
-
33
-
-
0026583873
-
Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products
-
Lim S.K., Sigmund C.D., Gross K.W., Maquat L.E. Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. Mol. Cell. Biol. 1992, 12:1149-1161.
-
(1992)
Mol. Cell. Biol.
, vol.12
, pp. 1149-1161
-
-
Lim, S.K.1
Sigmund, C.D.2
Gross, K.W.3
Maquat, L.E.4
-
34
-
-
0034667531
-
Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation
-
Romao L., Inacio A., Santos S., Avila M., Faustino P., Pacheco P., Lavinha J. 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
Avila, M.4
Faustino, P.5
Pacheco, P.6
Lavinha, J.7
-
35
-
-
70149115754
-
Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations
-
Salvatori F., Cantale V., Breveglieri G., Zuccato C., Finotti A., Bianchi N., Borgatti M., Feriotto G., Destro F., Canella A., Breda L., Rivella S., Gambari R. Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations. Biotechnol. Appl. Biochem. 2009, 54:41-52.
-
(2009)
Biotechnol. Appl. Biochem.
, vol.54
, pp. 41-52
-
-
Salvatori, F.1
Cantale, V.2
Breveglieri, G.3
Zuccato, C.4
Finotti, A.5
Bianchi, N.6
Borgatti, M.7
Feriotto, G.8
Destro, F.9
Canella, A.10
Breda, L.11
Rivella, S.12
Gambari, R.13
-
36
-
-
84861855326
-
Unspliced precursors of NMD-sensitive beta-globin transcripts exhibit decreased steady-state levels in erythroid cells
-
Morgado A., Almeida F., Teixeira A., Silva A.L., Romao L. Unspliced precursors of NMD-sensitive beta-globin transcripts exhibit decreased steady-state levels in erythroid cells. PLoS One 2012, 7:e38505.
-
(2012)
PLoS One
, vol.7
-
-
Morgado, A.1
Almeida, F.2
Teixeira, A.3
Silva, A.L.4
Romao, L.5
-
37
-
-
85047690389
-
Two novel polyadenylation mutations leading to beta(+)-thalassemia
-
Jankovic L., Efremov G.D., Petkov G., Kattamis C., George E., Yang K.G., Stoming T.A., Huisman T.H. Two novel polyadenylation mutations leading to beta(+)-thalassemia. Br. J. Haematol. 1990, 75:122-126.
-
(1990)
Br. J. Haematol.
, vol.75
, pp. 122-126
-
-
Jankovic, L.1
Efremov, G.D.2
Petkov, G.3
Kattamis, C.4
George, E.5
Yang, K.G.6
Stoming, T.A.7
Huisman, T.H.8
-
38
-
-
0026511246
-
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites
-
Rund D., Dowling C., Najjar K., Rachmilewitz E.A., Kazazian H.H., Oppenheim A. Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Proc. Natl. Acad. Sci. U. S. A. 1992, 89:4324-4328.
-
(1992)
Proc. Natl. Acad. Sci. U. S. A.
, vol.89
, pp. 4324-4328
-
-
Rund, D.1
Dowling, C.2
Najjar, K.3
Rachmilewitz, E.A.4
Kazazian, H.H.5
Oppenheim, A.6
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