(Q44028448)

29 November 2017

title

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

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29 November 2017

author name string

Krishnaswamy Balamurugan

series ordinal

1

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29 November 2017

Hamid M Said

series ordinal

2

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29 November 2017

publication date

1 July 2002

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American Journal of Physiology - Gastrointestinal and Liver Physiology

29 November 2017

published in

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29 November 2017

volume

283

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29 November 2017

issue

1

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29 November 2017

page(s)

G37-43

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Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

29 November 2017

cites work

1 reference

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

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

21 January 2018

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Carbohydrate-mediated Golgi to cell surface transport and apical targeting of membrane proteins

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Rapid and efficient site-specific mutagenesis without phenotypic selection

21 January 2018

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

21 January 2018

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Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects

21 January 2018

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Vaccinia virus: a tool for research and vaccine development

21 January 2018

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

21 January 2018

1 reference

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Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene

21 January 2018

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Transport of thiamine in human intestine: mechanism and regulation in intestinal epithelial cell model Caco-2.

21 January 2018

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Mechanism of thiamine uptake by human colonocytes: studies with cultured colonic epithelial cell line NCM460.

21 January 2018

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A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

21 January 2018

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N-glycans as apical sorting signals in epithelial cells

21 January 2018

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

21 January 2018

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Basolateral localization of organic cation transporter 2 in intact renal proximal tubules

21 January 2018

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Stringent chemical and thermal regulation of recombinant gene expression by vaccinia virus vectors in mammalian cells

21 January 2018

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21 January 2018

Identifiers

DOI

10.1152/AJPGI.00547.2001

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29 November 2017

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