(Q40616120)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Ami Aronheim

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Dana Baron

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Stavit Drori

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

language of work or name

English

0 references

publication date

1 November 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

270

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

4469-4477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14622275%20AND%20SRC:MED&resulttype=core&format=json

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Cloning of the human thiamine transporter, a member of the folate transporter family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Alterations in the expression of transcription factors and the reduced folate carrier as a novel mechanism of antifolate resistance in human leukemia cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Oligomerization of serotonin transporter and its functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Introduction of a (poly)histidine tag in L-lactate dehydrogenase produces a mixture of active and inactive molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Clustering of mutations in the first transmembrane domain of the human reduced folate carrier in GW1843U89-resistant leukemia cells with impaired antifolate transport and augmented folate uptake.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Effects of the loss of capacity for N-glycosylation on the transport activity and cellular localization of the human reduced folate carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

Functional interactions between arginine-133 and aspartate-88 in the human reduced folate carrier: evidence for a charge-pair association

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1432-1033.2003.03839.X

10.1046/J.1432-1033.2003.03839.X

21 January 2018

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2jtm5vtnjzewnb4p4domtqna7e

mapped directly with Wikidata item

30 July 2022

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Fatcat ID

release_2jtm5vtnjzewnb4p4domtqna7e

1 reference

Fatcat

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mapped directly with Wikidata item

30 July 2022

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https://api.fatcat.wiki/v0/release/2jtm5vtnjzewnb4p4domtqna7e

1 reference