Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster (Q33919342)

30 July 2017

title

Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster (English)

1 reference

30 July 2017

Liebhaber SA

1

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30 July 2017

Griese EU

2

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30 July 2017

Weiss I

3

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30 July 2017

Cash FE

4

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30 July 2017

Ayyub H

5

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30 July 2017

Higgs DR

6

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30 July 2017

Horst J

7

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30 July 2017

language of work or name

English

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publication date

1 December 1990

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Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

published in

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30 July 2017

volume

87

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30 July 2017

issue

23

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30 July 2017

page(s)

9431-9435

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alpha-Thalassemia caused by an unstable alpha-globin mutant

30 July 2017

cites work

1 reference

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Molecular basis of length polymorphism in the human zeta-globin gene complex

5 July 2018

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Highly variable regions of DNA flank the human alpha globin genes

5 July 2018

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Human fetal to adult hemoglobin switching: changes in chromatin structure of the beta-globin gene locus

5 July 2018

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Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion

5 July 2018

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The "beta-like-globin" gene domain in human erythroid cells

5 July 2018

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Regulated expression of human A gamma-, beta-, and hybrid gamma beta-globin genes in transgenic mice: manipulation of the developmental expression patterns.

5 July 2018

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Position-independent, high-level expression of the human beta-globin gene in transgenic mice

5 July 2018

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An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

5 July 2018

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Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids

5 July 2018

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Two 3' sequences direct adult erythroid-specific expression of human beta-globin genes in transgenic mice

5 July 2018

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Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

5 July 2018

1 reference

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Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

5 July 2018

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A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia

5 July 2018

1 reference

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Locus assignment of alpha-globin structural mutations by hybrid-selected translation

5 July 2018

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Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]

5 July 2018

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A new hypervariable marker for the human alpha-globin gene cluster

5 July 2018

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Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites

5 July 2018

1 reference

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Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site

5 July 2018

1 reference

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Molecular analysis of the human beta-globin locus activation region

5 July 2018

1 reference

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5 July 2018

1 reference

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A review of the molecular genetics of the human alpha-globin gene cluster

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55179

High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human hemoglobin in murine erythrocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55179

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

5 July 2018

1 reference

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A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55179

Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin

5 July 2018

1 reference

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Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=55179

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

29 October 2018

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A major positive regulatory region located far upstream of the human alpha-globin gene locus

29 October 2018

1 reference

12 December 2020

32 Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors

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12 December 2020

A single erythroid-specific DNase I super-hypersensitive site activates high levels of human beta-globin gene expression in transgenic mice

1 reference

12 December 2020

Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis

1 reference

12 December 2020

Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families

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12 December 2020

A 3' enhancer contributes to the stage-specific expression of the human beta-globin gene

1 reference

12 December 2020

Differences in human α- and β-globin gene expression in mouse erythroleukemia cells: The role of intragenic sequences

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12 December 2020

Regulated expression of the human β-globin gene family in murine erythroleukaemia cells

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12 December 2020

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

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12 December 2020

The duplicated human α-globin genes: Their relative expression as measured by RNA analysis

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12 December 2020

Identifiers

DOI

10.1073/PNAS.87.23.9431

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30 July 2017

0 references

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30 July 2017

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