(Q35164314)

6 August 2017

1 reference

title

Regulatory mutations and human genetic disease (English)

1 reference

6 August 2017

Regulatory Mutations and Human Genetic Disease (English)

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

22 November 2023

1

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 December 1992

1 reference

full work available at URL

6 August 2017

http://www.tandfonline.com/doi/pdf/10.3109/07853899209166991

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

22 November 2023

1 reference

6 August 2017

24

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6 August 2017

6

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6 August 2017

427-437

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Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cells

6 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

An erythroid specific nuclear factor binding to the proximal CACCC box of the beta-globin gene promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Interaction of a gene-specific transcription factor with the adenovirus major late promoter upstream of the TATA box region.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

ATA box transcription mutation in beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A novel C-T transition within the distal CCAAT motif of the Gγ-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

The T→C substitution at -198 of the Aγ-globin gene associated with the British form of HPFH generates overlapping recognition sites for two DNA-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Mutations in two regions upstream of the A gamma globin gene canonical promoter affect gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Increased erythroid-specific expression of a mutated HPFH gamma-globin promoter requires the erythroid factor NFE-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Protein-DNA interactions upstream from the human A gamma globin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Human gamma- to beta-globin gene switching in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Importance of globin gene order for correct developmental expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Comparative sequence analysis of mammalian factor IX promoters.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Direct carrier testing in 14 families with haemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A less severe form of Haemophilia B Leyden

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

An A to T transversion at position −5 of the Factor IX promoter results in hemophilia B

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Recovery from Hemophilia B Leyden: An Androgen-Responsive Element in the Factor IX Promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

An erythroid-specific, developmental-stage-independent enhancer far upstream of the human "beta-like globin" genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Inactivation of the human beta-globin gene by targeted insertion into the beta-globin locus control region

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Characterization of the major regulatory element upstream of the human alpha-globin gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Transcription efficiency of human apolipoprotein A-I promoter varies with naturally occurring A to G transition.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

A variant insulin promoter in non-insulin-dependent diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209166991

Fine structure genetic analysis of a beta-globin promoter

21 January 2018

1

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

The molecular genetics of human hemoglobin

22 November 2023

3

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of ?-thalassaemia in the Portuguese population

22 November 2023

6

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Promoter mutations producing mild beta-thalassaemia in the Italian population

22 November 2023

11

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Increased protein binding to a -530 mutation of the human beta-globin gene associated with decreased beta-globin synthesis

22 November 2023

17

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia

22 November 2023

26

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

A naturally occurring gamma globin gene mutation enhances SP1 binding activity

22 November 2023

39

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell

22 November 2023

40

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin

22 November 2023

48

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Expression of the affected A gamma globin gene associated with Greek nondeletion hereditary persistence of fetal hemoglobin

22 November 2023

50

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

A single beta-globin locus control region element (5' hypersensitive site 2) is sufficient for developmental regulation of human globin genes in transgenic mice

22 November 2023

78

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene

22 November 2023

83

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

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

22 November 2023

86

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Promoter and 11-kilobase upstream enhancer elements responsible for hepatoma cell-specific expression of the rat ornithine transcarbamylase gene

22 November 2023

90

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Molecular Biology and Medicine

22 November 2023

93

7

233

Jeenah M

1990

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

Polymorphisms in the apolipoprotein (apo) AI-CIII-AIV gene cluster: detection of genetic variation determining plasma apo AI, apo CIII and apo AIV concentrations

22 November 2023

96

1 reference

https://api.crossref.org/works/10.3109/07853899209166991

22 November 2023

Identifiers

1 reference

6 August 2017

1 reference