(Q30500630)

24 September 2017

Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts (English)

1 reference

thiamine-responsive megaloblastic anemia syndrome

24 September 2017

0 references

1 reference

A R Stagg

1

1 reference

24 September 2017

J C Fleming

2

1 reference

24 September 2017

M A Baker

3

1 reference

24 September 2017

M Sakamoto

4

1 reference

24 September 2017

N Cohen

5

1 reference

24 September 2017

E J Neufeld

6

1 reference

24 September 2017

language of work or name

English

0 references

publication date

1 March 1999

1 reference

Journal of Clinical Investigation

24 September 2017

1 reference

24 September 2017

103

1 reference

24 September 2017

5

1 reference

24 September 2017

723-729

1 reference

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Identification and characterization of the thiamine transporter gene of Saccharomyces cerevisiae

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Isolation and characterization of a thiamin transport gene, THI10, from Saccharomyces cerevisiae

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Apoptosis is restricted to the thalamus in thiamine-deficient rats.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

In vitro addition of thiamin does not restore BFU-E growth in thiamin-responsive anemia syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Thiamine-responsive anemia in DIDMOAD syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Thiamine transport by human intestine in vitro

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=408117

Thiamine-responsive megaloblastic anemia

26 November 2018

1 reference

12 December 2020

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

1 reference

12 December 2020

Dual system of intestinal thiamine transport in humans

1 reference

12 December 2020

Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cells

1 reference

12 December 2020

Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome"

1 reference

12 December 2020

Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?

1 reference

12 December 2020

Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia

1 reference

12 December 2020

Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency

1 reference

12 December 2020

Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia

1 reference

12 December 2020

Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia

1 reference

12 December 2020

Thiamine uptake in human intestinal biopsy specimens, including observations from a patient with acute thiamine deficiency

1 reference

12 December 2020

A thiamine/H+ antiport mechanism for thiamine entry into brush border membrane vesicles from rat small intestine

1 reference

12 December 2020

Mitochondria and apoptosis

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI3895

1 reference

24 September 2017

1 reference

24 September 2017

PubMed publication ID

10074490

1 reference