-
3
-
-
0004119120
-
-
Cambridge University Press. Cambridge, UK
-
STEINBERG, M.H. et al. 2001. Disorders of Hemoglobin. Cambridge University Press. Cambridge, UK.
-
(2001)
Disorders of Hemoglobin
-
-
Steinberg, M.H.1
-
4
-
-
18244385279
-
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
-
VIPRAKASIT, V., R.J. GIBBONS, B.C. BROUGHTON, et al. 2001. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum. Mol. Genet. 10: 2797-2802.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2797-2802
-
-
Viprakasit, V.1
Gibbons, R.J.2
Broughton, B.C.3
-
5
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
-
GIBBONS, R.J., D.J. PICKETTS, L. VILLARD & D.R. HIGGS. 1995. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80: 837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
6
-
-
0034052854
-
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
-
NICHOLS, K.E., J.D. CRISPINO, M. PONCZ, et al. 2000. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24: 266-270.
-
(2000)
Nat. Genet.
, vol.24
, pp. 266-270
-
-
Nichols, K.E.1
Crispino, J.D.2
Poncz, M.3
-
7
-
-
0037105495
-
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
-
YU, C., K.K. NIAKAN, M. MATSUSHITA, et al. 2002. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 100: 2040-2045.
-
(2002)
Blood
, vol.100
, pp. 2040-2045
-
-
Yu, C.1
Niakan, K.K.2
Matsushita, M.3
-
8
-
-
0028990264
-
Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF
-
PERKINS, A.C., A.H. SHARPE & S.H. ORKIN. 1995. Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature 375: 318-322.
-
(1995)
Nature
, vol.375
, pp. 318-322
-
-
Perkins, A.C.1
Sharpe, A.H.2
Orkin, S.H.3
-
9
-
-
20244389965
-
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)
-
GIBBONS, R.J., A. PELLAGATTI, D. GARRICK, et al 2003. Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). Nat. Genet. 34: 446-449.
-
(2003)
Nat. Genet.
, vol.34
, pp. 446-449
-
-
Gibbons, R.J.1
Pellagatti, A.2
Garrick, D.3
-
10
-
-
11244252826
-
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies
-
STEENSMA, D.P., R.J. GIBBONS & D.R. HIGGS. 2005. Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood 105: 443-452.
-
(2005)
Blood
, vol.105
, pp. 443-452
-
-
Steensma, D.P.1
Gibbons, R.J.2
Higgs, D.R.3
-
11
-
-
0023663887
-
Position-independent, high-level expression of the human beta-globin gene in transgenic mice
-
GROSVELD, F., G.B. VAN ASSENDELFT, D.R. GREAVES & G. KOLLIAS. 1987. Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 51: 975-985.
-
(1987)
Cell
, vol.51
, pp. 975-985
-
-
Grosveld, F.1
Van Assendelft, G.B.2
Greaves, D.R.3
Kollias, G.4
-
12
-
-
0023550898
-
Evidence for a locus activation region: The formation of developmentally stable hypersensitive sites in globin-expressing hybrids
-
FORRESTER, W.C., S. TAKEGAWA, T. PAPAYANNOPOULOU, et al. 1987. Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res. 15: 10159-10177.
-
(1987)
Nucleic Acids Res.
, vol.15
, pp. 10159-10177
-
-
Forrester, W.C.1
Takegawa, S.2
Papayannopoulou, T.3
-
13
-
-
0021165118
-
Mapping of DNase I-hypersensitive sites in the upstream DNA of human embryonic epsilon-globin gene in K562 leukemia cells
-
TUAN, D. & I.M. LONDON. 1984. Mapping of DNase I-hypersensitive sites in the upstream DNA of human embryonic epsilon-globin gene in K562 leukemia cells. Proc. Natl. Acad. Sci. USA 81: 2718-2722.
-
(1984)
Proc. Natl. Acad. Sci. USA
, vol.81
, pp. 2718-2722
-
-
Tuan, D.1
London, I.M.2
-
14
-
-
0024993211
-
A major positive regulatory region located far upstream of the human alpha-globin gene locus
-
HIGGS, D.R., W.G. WOOD, A.P. JARMAN, et al. 1990. A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev. 4: 1588-1601.
-
(1990)
Genes Dev.
, vol.4
, pp. 1588-1601
-
-
Higgs, D.R.1
Wood, W.G.2
Jarman, A.P.3
-
15
-
-
0031924708
-
Understanding alpha globin gene expression: A step towards effective gene therapy
-
HIGGS, D.R., J.A. SHARPE & W.G. WOOD. 1998. Understanding alpha globin gene expression: a step towards effective gene therapy. Semin. Hematol. 35: 93-104.
-
(1998)
Semin. Hematol.
, vol.35
, pp. 93-104
-
-
Higgs, D.R.1
Sharpe, J.A.2
Wood, W.G.3
-
16
-
-
0031029805
-
The relationship between chromosome structure and function at a human telomeric region
-
FLINT, J., K. THOMAS, G. MICKLEM, et al. 1997. The relationship between chromosome structure and function at a human telomeric region. Nat. Genet. 15: 252-257.
-
(1997)
Nat. Genet.
, vol.15
, pp. 252-257
-
-
Flint, J.1
Thomas, K.2
Micklem, G.3
-
17
-
-
0035864919
-
Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster
-
FLINT, J., K. THOMAS, G. MICKLEM, et al. 2001. Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster. Hum. Mol. Genet. 10: 371-382.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 371-382
-
-
Flint, J.1
Thomas, K.2
Micklem, G.3
-
18
-
-
22244458301
-
Annotation of cis-regulatory elements by identification, subclassification and functional assessment of multi-species conserved sequences
-
HUGHES, J.R. et al. 2005. Annotation of cis-regulatory elements by identification, subclassification and functional assessment of multi-species conserved sequences. Proc. Natl. Acad. Sci. USA 102: 9880-9835.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 9880-19835
-
-
Hughes, J.R.1
-
19
-
-
0023899769
-
Nuclease hypersensitive sites in chromatin
-
GROSS, D.S. & W.T. GARRARD. 1988. Nuclease hypersensitive sites in chromatin. Annu. Rev. Biochem. 57: 159-197.
-
(1988)
Annu. Rev. Biochem.
, vol.57
, pp. 159-197
-
-
Gross, D.S.1
Garrard, W.T.2
-
20
-
-
0037071383
-
Transcriptional regulation of erythropoiesis: An affair involving multiple partners
-
CANTOR, A.B. & S.H. ORKIN. 2002. Transcriptional regulation of erythropoiesis: an affair involving multiple partners. Oncogene 21: 3368-3376.
-
(2002)
Oncogene
, vol.21
, pp. 3368-3376
-
-
Cantor, A.B.1
Orkin, S.H.2
-
21
-
-
3543038232
-
Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2
-
ANGUITA, E., J. HUGHES, C. HEYWORTH, et al. 2004. Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2. EMBO J. 23: 2841-2852.
-
(2004)
EMBO J.
, vol.23
, pp. 2841-2852
-
-
Anguita, E.1
Hughes, J.2
Heyworth, C.3
-
22
-
-
0344406182
-
De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia
-
VIPRAKASIT, V., A.M. KIDD, H. AYYUB, et al. 2003. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia. Br. J. Haematol. 120: 867-875.
-
(2003)
Br. J. Haematol.
, vol.120
, pp. 867-875
-
-
Viprakasit, V.1
Kidd, A.M.2
Ayyub, H.3
-
23
-
-
0035909911
-
The expression of human alpha-like globin genes in transgenic mice mediated by bacterial artificial chromosome
-
FENG, D.X., D.P. LIU, Y. HUANG, et al. 2001. The expression of human alpha-like globin genes in transgenic mice mediated by bacterial artificial chromosome. Proc. Natl. Acad. Sci. USA 98: 15073-15077.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 15073-15077
-
-
Feng, D.X.1
Liu, D.P.2
Huang, Y.3
-
25
-
-
29744449195
-
Complementation of α-thalassaemia in α-globin knockout mice with a 191 kb transgene containing the human α-globin locus
-
AL-HASANI, K. et al. 2004. Complementation of α-thalassaemia in α-globin knockout mice with a 191 kb transgene containing the human α-globin locus. Transgenic Res. 2120: 1-9.
-
(2004)
Transgenic Res.
, vol.2120
, pp. 1-9
-
-
Al-Hasani, K.1
-
27
-
-
1942439629
-
Mechanisms for ATP-dependent chromatin remodelling: Farewell to the tuna-can octamer?
-
FLAUS, A. & T. OWEN-HUGHES. 2004. Mechanisms for ATP-dependent chromatin remodelling: farewell to the tuna-can octamer? Curr. Opin. Genet. Dev. 14: 165-173.
-
(2004)
Curr. Opin. Genet. Dev.
, vol.14
, pp. 165-173
-
-
Flaus, A.1
Owen-Hughes, T.2
-
28
-
-
2642531973
-
Epigenetics in human disease and prospects for epigenetic therapy
-
EGGER, G., G. LIANG, A. APARICIO & PA. JONES. 2004. Epigenetics in human disease and prospects for epigenetic therapy. Nature 429: 457-463.
-
(2004)
Nature
, vol.429
, pp. 457-463
-
-
Egger, G.1
Liang, G.2
Aparicio, A.3
Jones, P.A.4
-
29
-
-
0038581890
-
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
-
TUFARELLI, C., J.A. STANLEY, D. GARRICK, et al. 2003. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat. Genet. 34: 157-165.
-
(2003)
Nat. Genet.
, vol.34
, pp. 157-165
-
-
Tufarelli, C.1
Stanley, J.A.2
Garrick, D.3
-
30
-
-
0019784411
-
Hemoglobin H disease and mental retardation: A new syndrome or a remarkable coincidence?
-
WEATHERALL, D.J., D.R. HIGGS, C. BUNCH, et al. 1981. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N. Engl. J. Med. 305: 607-612.
-
(1981)
N. Engl. J. Med.
, vol.305
, pp. 607-612
-
-
Weatherall, D.J.1
Higgs, D.R.2
Bunch, C.3
-
31
-
-
0034522528
-
Molecular-clinical spectrum of the ATR-X syndrome
-
GIBBONS, R.J. & D.R. HIGGS. 2000. Molecular-clinical spectrum of the ATR-X syndrome. Am. J. Med. Genet. 97: 204-212.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 204-212
-
-
Gibbons, R.J.1
Higgs, D.R.2
-
32
-
-
0141703327
-
The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies
-
XUE, Y., R. GIBBONS, Z. YAN, et al. 2003. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Proc. Natl. Acad. Sci. USA 100: 10635-10640.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 10635-10640
-
-
Xue, Y.1
Gibbons, R.2
Yan, Z.3
-
33
-
-
13044252871
-
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
-
MCDOWELL, T.L., R.J. GIBBONS, H. SUTHERLAND, et al. 1999. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc. Natl. Acad. Sci. USA 96: 13983-13988.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 13983-13988
-
-
Mcdowell, T.L.1
Gibbons, R.J.2
Sutherland, H.3
-
34
-
-
0034069652
-
Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
-
GIBBONS, R.J., T.L. MCDOWELL, S. RAMAN, et al. 2000. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nat. Genet. 24: 368-371.
-
(2000)
Nat. Genet.
, vol.24
, pp. 368-371
-
-
Gibbons, R.J.1
Mcdowell, T.L.2
Raman, S.3
-
35
-
-
0035864912
-
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16
-
DANIELS, R.J., J.F. PEDEN, C. LLOYD, et al. 2001. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum. Mol. Genet. 10: 339-352.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 339-352
-
-
Daniels, R.J.1
Peden, J.F.2
Lloyd, C.3
|