X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation (Q35408822)

8 August 2017

0 references

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. (English)

1 reference

8 August 2017

Leif S Ludwig

4

0 references

Scott B Lovitch

Scott B Lovitch

10

0 references

Jiahai Shi

Jiahai Shi

9

0 references

Jacob C Ulirsch

Jacob C Ulirsch

2

0 references

Rafael Bejar

Rafael Bejar

8

0 references

David F Bishop

David F Bishop

11

1 reference

ORCID Public Data File 2021

author name string

Vijay G Sankaran

1

1 reference

8 August 2017

Vassili Tchaikovskii

3

1 reference

8 August 2017

Aoi Wakabayashi

5

1 reference

8 August 2017

Senkottuvelan Kadirvel

6

1 reference

8 August 2017

R Coleman Lindsley

7

1 reference

8 August 2017

David P Steensma

12

1 reference

8 August 2017

language of work or name

English

0 references

publication date

23 February 2015

1 reference

Journal of Clinical Investigation

8 August 2017

1 reference

8 August 2017

125

1 reference

8 August 2017

4

1 reference

8 August 2017

1665-1669

1 reference

Identification of erythroferrone as an erythroid regulator of iron metabolism

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Applications of high-throughput DNA sequencing to benign hematology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

12 July 2018

Unexplained macrocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Aberrant iron accumulation and oxidized status of erythroid-specific delta-aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

ABC of clinical haematology. Macrocytic anaemias

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4396476

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromato

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25705881

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI78619

1 reference

8 August 2017

1 reference

8 August 2017

1 reference