(Q37619645)

21 August 2017

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations (English)

1 reference

X-linked sideroblastic anemia

21 August 2017

1 reference

Marion Sweeney

4

0 references

Anoop Sendamarai

Anoop K Sendamarai

5

0 references

Kyriacos Markianos

Kyriacos Markianos

18

0 references

Matthew M. Heeney

Matthew M Heeney

7

0 references

Mark D Fleming

Mark D Fleming

21

0 references

Helger G Yntema

8

Helger G Yntema

1 reference

21 August 2017

Dean R Campagna

1

1 reference

21 August 2017

Charlotte I de Bie

2

1 reference

21 August 2017

Klaus Schmitz-Abe

3

1 reference

21 August 2017

Paul J Schmidt

6

1 reference

21 August 2017

Caroline Kannengiesser

9

1 reference

21 August 2017

Bernard Grandchamp

10

1 reference

21 August 2017

Charlotte M Niemeyer

11

1 reference

21 August 2017

Nine V A M Knoers

12

1 reference

21 August 2017

Sonia Swart

13

1 reference

21 August 2017

Gordon Marron

14

1 reference

21 August 2017

Richard van Wijk

15

1 reference

21 August 2017

Reinier A Raymakers

16

1 reference

21 August 2017

Alison May

17

1 reference

21 August 2017

Sylvia S Bottomley

19

1 reference

21 August 2017

Dorine W Swinkels

20

1 reference

21 August 2017

20 November 2013

1 reference

American Journal of Hematology

21 August 2017

1 reference

21 August 2017

89

1 reference

21 August 2017

3

1 reference

21 August 2017

315-319

1 reference

Identification of biologically relevant enhancers in human erythroid cells

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

The UCSC Genome Browser database: extensions and updates 2013.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

An integrated encyclopedia of DNA elements in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Inherited thrombocytopenia due to GATA-1 mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

PrimerBank: a PCR primer database for quantitative gene expression analysis, 2012 update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Selection of housekeeping genes for gene expression studies in human reticulocytes using real-time PCR.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

DNA-binding specificities of the GATA transcription factor family

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Experimental validation of predicted mammalian erythroid cis-regulatory modules

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

GATAAG; a cis-control region binding an erythroid-specific nuclear factor with a role in globin and non-globin gene expression

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

DNA-binding specificity of GATA family transcription factors

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3943703

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency

1 September 2018

1 reference

12 December 2020

X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia

1 reference

12 December 2020

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

12 December 2020

Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Identification of promoter elements and role of regulatory proteins

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJH.23616

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24166784

1 reference