Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Hemochromatosis neural archetype reveals iron disruption in motor circuits.
Loughnan R et al.
Science Advances, 2024
Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Azabdaftari A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L et al.
International Journal of Molecular Sciences, 2022
DOES SLC11A2 GENE MUTATION ASSOCIATE WITH IRON-REFRACTORY IRON-DEFICIENCY ANEMIA AFTER BARIATRIC SURGERY?
Piatto VB et al.
Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives of Digestive Surgery, 2022
Molecular Mechanism of Nramp-Family Transition Metal Transport.
Bozzi AT et al.
Journal of Molecular Biology, 2021
Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene.
De Falco L et al.
British Journal of Haematology, 2012
H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.
Shawki A et al.
Current Topics in Membranes, 2012
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
Bardou-Jacquet E et al.
Blood Cells, Molecules & Diseases, 2011
Mutations in the gene encoding DMT1: clinical presentation and treatment.
Iolascon A et al.
Seminars in Hematology, 2009
Site-directed mutagenesis investigation of coupling properties of metal ion transport by DCT1.
Nevo Y
Biochimica Et Biophysica Acta, 2008
Natural history of recessive inheritance of DMT1 mutations.
Iolascon A et al.
The Journal of Pediatrics, 2008
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.
Beaumont C et al.
Blood, 2006
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload.
Lam-Yuk-Tseung S et al.
Blood Cells, Molecules & Diseases, 0
Not all DMT1 mutations lead to iron overload.
Blanco E et al.
Blood Cells, Molecules & Diseases, 0