Associated Papers
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
Sun C et al.
Journal of Diabetes, 2018
Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
Manimaran P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN et al.
Ophthalmic Genetics, 2014
Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes.
Liu G et al.
Blood Cells, Molecules & Diseases, 2014
Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.
Subramanian VS et al.
The Journal of Physiology, 2007
Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
Subramanian VS et al.
Clinical Science (london, England : 1979), 2007
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Lagarde WH et al.
American Journal of Medical Genetics. Part A, 2004
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
Baron D et al.
European Journal of Biochemistry, 2003
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
Baron D et al.
Molecular Medicine (cambridge, Mass.), 2002
Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.
Balamurugan K et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2002
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T et al.
Human Mutation, 2000