(Q35820385)

10 August 2017

0 references

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment (English)

1 reference

10 August 2017

Manuela Marra

9

0 references

Aurelio Maggio

object named as

Aurelio Maggio

6

0 references

John Stamatoyannopoulos

12

object named as

John A Stamatoyannopoulos

1 reference

10 August 2017

Alister P W Funnell

1

1 reference

10 August 2017

Paolo Prontera

2

1 reference

10 August 2017

Valentina Ottaviani

3

1 reference

10 August 2017

Maria Piccione

4

1 reference

10 August 2017

Antonino Giambona

5

1 reference

10 August 2017

Fiorella Ciaffoni

7

1 reference

10 August 2017

Sandra Stehling-Sun

8

1 reference

10 August 2017

Francesca Masiello

10

1 reference

10 August 2017

Lilian Varricchio

11

1 reference

10 August 2017

Anna R Migliaccio

13

1 reference

10 August 2017

Thalia Papayannopoulou

14

1 reference

10 August 2017

language of work or name

English

0 references

publication date

27 May 2015

1 reference

10 August 2017

1 reference

10 August 2017

126

1 reference

10 August 2017

1

1 reference

10 August 2017

89-93

1 reference

Anemia: progress in molecular mechanisms and therapies

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Global transcriptome analyses of human and murine terminal erythroid differentiation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

A novel human gamma-globin gene vector for genetic correction of sickle cell anemia in a humanized sickle mouse model: critical determinants for successful correction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Bcl11a is essential for normal lymphoid development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

KLF1 gene mutations in Chinese adults with increased fetal hemoglobin

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Developmental and species-divergent globin switching are driven by BCL11A

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Genetic correction of sickle cell disease: insights using transgenic mouse models

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

Deletion 2p15-16.1 syndrome: Case report and review

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492199

De novo microdeletion of BCL11A is associated with severe speech sound disorder

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26019277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26019277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2015-04-638528

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

26019277

1 reference