A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.

A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.

We have characterized a newly identified 16.6 kb deletion which removes a significant proportion of the human alpha-globin cluster including the psizeta1, alpha(D), psialpha1 and alpha2-globin genes but leaves the duplicated alpha1 gene intact. This complicated rearrangement results from a combinati...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Rugless, M, Fisher, C, Old, J, Sloane-Stanley, J, Ayyub, H, Higgs, D, Garrick, D
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	2008

Míreanna comhchosúla

A 16.5 kb deletion in the alpha globin cluster associated with an extremely mild phenotype
de réir: Rugless, M, et al.
Foilsithe / Cruthaithe: (2007)

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype.
de réir: Anguita, E, et al.
Foilsithe / Cruthaithe: (2002)

Deletion of the mouse alpha globin regulatory element (HS-26) has an unexpectedly mild phenotype.
de réir: Anguita, E, et al.
Foilsithe / Cruthaithe: (2003)

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells.
de réir: Garrick, D, et al.
Foilsithe / Cruthaithe: (2008)

A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element.
de réir: Viprakasit, V, et al.
Foilsithe / Cruthaithe: (2006)

De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia.
de réir: Viprakasit, V, et al.
Foilsithe / Cruthaithe: (2003)

The mechanism of alpha-globin activation during erythropoiesis
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (2007)

Analysis of DNA Methylation at the Human Alpha Globin Cluster during Hematopoiesis
de réir: Ekwattanakit, S, et al.
Foilsithe / Cruthaithe: (2008)

Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
de réir: Hatton, C, et al.
Foilsithe / Cruthaithe: (1990)

Differences in the patterns of transcription factor binding in the human and mouse alpha globin clusters point to potential differences in their regulation.
de réir: De Gobbi, M, et al.
Foilsithe / Cruthaithe: (2005)

Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome.
de réir: Steensma, D, et al.
Foilsithe / Cruthaithe: (2004)

Interplay between DNA and histone methylation at an alpha-globin gene silenced by antisense RNA
de réir: De Gobbi, M, et al.
Foilsithe / Cruthaithe: (2007)

The role of histone deacetylases in repressing alpha-globin gene expression in non-erythroid cells.
de réir: Garrick, D, et al.
Foilsithe / Cruthaithe: (2003)

Molecular rearrangements of the human alpha-globin gene cluster.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (1985)

GEOGRAPHIC-DISTRIBUTION OF ALPHA-GLOBIN AND BETA-GLOBIN GENE-CLUSTER POLYMORPHISMS
de réir: Wainscoat, J, et al.
Foilsithe / Cruthaithe: (1989)

Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice.
de réir: Sharpe, J, et al.
Foilsithe / Cruthaithe: (1992)

The mouse alpha-globin locus regulatory element.
de réir: Gourdon, G, et al.
Foilsithe / Cruthaithe: (1995)

Tissue-specific histone modification and transcription factor binding in alpha globin gene expression.
de réir: De Gobbi, M, et al.
Foilsithe / Cruthaithe: (2007)

Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element (HS -40).
de réir: Vernimmen, D, et al.
Foilsithe / Cruthaithe: (2009)

Alpha Thalassemia in Istanbul: Distribution of Deletions in Alpha-globin Gene Cluster
de réir: Fatma Nihal Öztürk
Foilsithe / Cruthaithe: (2024-06-01)

Alpha globin genotypes in two North European populations.
de réir: Flint, J, et al.
Foilsithe / Cruthaithe: (1986)

Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments.
de réir: Craddock, C, et al.
Foilsithe / Cruthaithe: (1995)

Long-range regulation of alpha-globin gene expression.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (2008)

Understanding alpha-globin gene regulation: Aiming to improve the management of thalassemia.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (2005)

Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin.
de réir: Vyas, P, et al.
Foilsithe / Cruthaithe: (1992)

Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (1986)

Selective silencing of α-globin by the histone demethylase inhibitor IOX1: A potentially new pathway for treatment of β-thalassemia
de réir: Mettananda, S, et al.
Foilsithe / Cruthaithe: (2016)

Long-range regulation of alpha globin gene expression during erythropoiesis.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (2008)

Analysis of the human alpha-globin gene cluster in transgenic mice.
de réir: Sharpe, J, et al.
Foilsithe / Cruthaithe: (1993)

Does Transcription of Remote alpha-Globin Regulatory Elements Affect Their Function?
de réir: Kowalczyk, MS, et al.
Foilsithe / Cruthaithe: (2009)

Is there a role for CTCF binding sites in regulating the structure or function of the a globin gene cluster?
de réir: Anguita, E, et al.
Foilsithe / Cruthaithe: (2005)

Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution.
de réir: Higgs, D, et al.
Foilsithe / Cruthaithe: (1984)

A silent deletion in the beta-globin gene cluster.
de réir: Tate, V, et al.
Foilsithe / Cruthaithe: (1986)

Genetic dissection of the α-globin super-enhancer in vivo
de réir: Hay, D, et al.
Foilsithe / Cruthaithe: (2016)

High-resolution analysis of cis-acting regulatory networks at the α-globin locus.
de réir: Hughes, J, et al.
Foilsithe / Cruthaithe: (2013)

High-resolution analysis of cis-acting regulatory networks at the α-globin locus.
de réir: Hughes, J, et al.
Foilsithe / Cruthaithe: (2013)

Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions.
de réir: Bowden, D, et al.
Foilsithe / Cruthaithe: (1987)

Role of upstream DNase I hypersensitive sites in the regulation of human alpha globin gene expression.
de réir: Sharpe, J, et al.
Foilsithe / Cruthaithe: (1993)

DNA looping in the alpha-globin locus
de réir: Canals-Hamann, A, et al.
Foilsithe / Cruthaithe: (2007)

Synergistic silencing of α-globin and induction of γ-globin by histone deacetylase inhibitor, vorinostat as a potential therapy for β-thalassaemia
de réir: Mettananda, S, et al.
Foilsithe / Cruthaithe: (2019)