Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin (Q24293797)

positive regulation of transcription, DNA-templated

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Pavlos Fanis

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Petros Papadopoulos

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Laura Gutiérrez

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Joseph Borg

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Godfrey Grech

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Marianthi Georgitsi

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Wilfred F J van IJcken

Wilfred van Ijcken

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Christian A Scerri

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George P Patrinos

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author name string

Marios Phylactides

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Annemieke J M H Verkerk

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Peter J van der Spek

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Wilhelmina Cassar

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Ruth Galdies

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Zeliha Ozgür

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Nynke Gillemans

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Jun Hou

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Marisa Bugeja

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Frank G Grosveld

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Marieke von Lindern

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Alex E Felice

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Sjaak Philipsen

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data

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language of work or name

English

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publication date

September 2010

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801-5

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults

19 March 2017

1 reference

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

19 March 2017

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A Novel, Erythroid Cell-Specific Murine Transcription Factor that Binds to the CACCC Element and is Related to the Krüppel Family of Nuclear Proteins†

19 March 2017

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

19 March 2017

1 reference

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Analyzing real-time PCR data by the comparative C(T) method

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

The active spatial organization of the beta-globin locus requires the transcription factor EKLF

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability

19 March 2017

1 reference

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A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells

19 March 2017

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A lentiviral RNAi library for human and mouse genes applied to an arrayed viral high-content screen

7 April 2017

1 reference

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Multiply attenuated lentiviral vector achieves efficient gene delivery in vivo

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Control of fetal hemoglobin: new insights emerging from genomics and clinical implications

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Failure of terminal erythroid differentiation in EKLF-deficient mice is associated with cell cycle perturbation and reduced expression of E2F2.

27 September 2017

1 reference

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Genetic complexity in sickle cell disease

27 September 2017

1 reference

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DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

27 September 2017

1 reference

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Recognition and elimination of nonsense mRNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Lineage-specific activators affect beta-globin locus chromatin in multipotent hematopoietic progenitors

27 September 2017

1 reference

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Probing the onset and regulation of erythroid cell-specific gene expression.

27 September 2017

1 reference

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easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

27 September 2017

1 reference

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Epigenetic consequences of AML1-ETO action at the human c-FMS locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

DNA sequence variation associated with elevated fetal G gamma globin production

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Role of erythroid Kruppel-like factor in human gamma- to beta-globin gene switching

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Induction of Erythroid-Specific Expression in Murine Erythroleukemia (MEL) Cell Lines

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

The role of EKLF in human beta-globin gene competition.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Different steroids co-regulate long-term expansion versus terminal differentiation in primary human erythroid progenitors

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Efficient gene delivery and targeted expression to hepatocytes in vivo by improved lentiviral vectors

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2930131

Analyses of beta-thalassemia mutant DNA interactions with erythroid Krüppel-like factor (EKLF), an erythroid cell-specific transcription factor

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20676099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20676099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential binding of erythroid Krupple-like factor to embryonic/fetal globin gene promoters during development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20676099

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.630

1 reference

Dimensions Publication ID

1018854202

0 references

1 reference

1 reference

PubMed publication ID

20676099

1 reference