(Q36508470)

English

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

scientific article published on 16 September 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

congenital disorder

0 references

myelodysplastic syndrome

1 reference

based on heuristic

inferred from title

7

object named as

Atsushi Manabe

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Rie Ohba

1

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Europe PubMed Central

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14 August 2017

Kazumichi Furuyama

2

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Europe PubMed Central

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14 August 2017

Kenichi Yoshida

3

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Europe PubMed Central

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14 August 2017

Tohru Fujiwara

4

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Europe PubMed Central

PMC publication ID

14 August 2017

Noriko Fukuhara

5

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Europe PubMed Central

PMC publication ID

14 August 2017

Yasushi Onishi

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Etsuro Ito

8

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Europe PubMed Central

PMC publication ID

14 August 2017

Keiya Ozawa

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Seiji Kojima

10

1 reference

Europe PubMed Central

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14 August 2017

Seishi Ogawa

11

1 reference

Europe PubMed Central

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14 August 2017

Hideo Harigae

12

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Europe PubMed Central

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14 August 2017

publication date

16 September 2012

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Europe PubMed Central

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14 August 2017

Annals of Hematology

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Europe PubMed Central

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14 August 2017

92

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Europe PubMed Central

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14 August 2017

1

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Europe PubMed Central

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14 August 2017

1-9

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Europe PubMed Central

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14 August 2017

Frequent pathway mutations of splicing machinery in myelodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Hereditary sideroblastic anemia: pathophysiology and gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Report of an international working group to standardize response criteria for myelodysplastic syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Characterization of a protein complex containing spliceosomal proteins SAPs 49, 130, 145, and 155

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

30 September 2017

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

28 June 2018

Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

21 September 2018

Late-onset X-linked sideroblastic anemia following hemodialysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

21 September 2018

X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3536986

21 September 2018

The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/22983749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22983749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22983749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22983749

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00277-012-1564-5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

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