(Q30657341)

27 September 2017

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations (English)

1 reference

27 September 2017

Tuğçe Bulakbaşı Balcı

object named as

Tugce B Balci

4

0 references

Jacob C Ulirsch

object named as

Jacob C Ulirsch

3

0 references

Mark Joseph Daly

13

object named as

Mark J Daly

1 reference

27 September 2017

10

Jan Trka

1 reference

27 September 2017

Anindita Basak

1

1 reference

27 September 2017

Miroslava Hancarova

2

1 reference

27 September 2017

Marie Trkova

5

1 reference

27 September 2017

Michal Pelisek

6

1 reference

27 September 2017

Marketa Vlckova

7

1 reference

27 September 2017

Katerina Muzikova

8

1 reference

27 September 2017

Jaroslav Cermak

9

1 reference

27 September 2017

David A Dyment

11

1 reference

27 September 2017

Stuart H Orkin

12

1 reference

27 September 2017

Zdenek Sedlacek

14

1 reference

27 September 2017

Vijay G Sankaran

15

1 reference

27 September 2017

language of work or name

English

0 references

publication date

4 May 2015

1 reference

Journal of Clinical Investigation

27 September 2017

1 reference

27 September 2017

125

1 reference

27 September 2017

6

1 reference

27 September 2017

2363-2368

1 reference

Anemia: progress in molecular mechanisms and therapies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Synaptic, transcriptional and chromatin genes disrupted in autism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Refining analyses of copy number variation identifies specific genes associated with developmental delay

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

A framework for the interpretation of de novo mutation in human disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Biological insights from 108 schizophrenia-associated genetic loci

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Disruptive CHD8 mutations define a subtype of autism early in development

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Dendritic cell fate is determined by BCL11A.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Bcl11a is essential for lymphoid development and negatively regulates p53.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

The switch from fetal to adult hemoglobin

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Genome-wide association study in German patients with attention deficit/hyperactivity disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

A functional element necessary for fetal hemoglobin silencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Deep sequencing of the small RNA transcriptome of normal and malignant human B cells identifies hundreds of novel microRNAs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Developmental and species-divergent globin switching are driven by BCL11A

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Control of globin gene expression during development and erythroid differentiation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

A novel nuclear human poly(A) polymerase (PAP), PAP gamma

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

Fetal hemoglobin levels and morbidity in untransfused patients with β-thalassemia intermedia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4497765

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25938782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25938782

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI81163

1 reference

27 September 2017

1 reference

27 September 2017

PubMed publication ID

25938782

1 reference