Varaico: Literature-Extracted Genetic Variants

Gene:SLC11A2
Variant:p.G185R
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SLC11A2

NM_000617.3:p.G185R

Associated Papers

The solute carrier family 11 transporters: a bridge between iron homeostasis and tumor biology.

Banerjee R et al.

Cell Communication and Signaling : Ccs, 2025

Genotypic Effect of IVS4+44C>A and c.2044T>C DMT1 Gene Mutations on Pathophysiology of Iron-Deficiency Anemia.

Pandey S et al.

Indian Journal of Pediatrics, 2022

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

Molecular Mechanism of Nramp-Family Transition Metal Transport.

Bozzi AT et al.

Journal of Molecular Biology, 2021

The Short Tandem Repeat of the DMT1 Gene as a Molecular Marker of Elite Long-Distance Runners.

Wuyun G et al.

International Journal of Genomics, 2019

Loss of divalent metal transporter 1 function promotes brain copper accumulation and increases impulsivity.

Han M et al.

Journal of Neurochemistry, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

Identification of mutations allowing Natural Resistance Associated Macrophage Proteins (NRAMP) to discriminate against cadmium.

Pottier M et al.

The Plant Journal : for Cell and Molecular Biology, 2015

Exploring genetic polymorphism in innate immune genes in Indian cattle (Bos indicus) and buffalo (Bubalus bubalis) using next generation sequencing technology.

Patel SM et al.

Meta Gene, 2015

Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.

Singh N et al.

Antioxidants & Redox Signaling, 2014

Glucose metabolism in the Belgrade rat, a model of iron-loading anemia.

Jia X et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2013

Erythropoietin-driven signaling ameliorates the survival defect of DMT1-mutant erythroid progenitors and erythroblasts.

Horvathova M et al.

Haematologica, 2012

H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.

Shawki A et al.

Current Topics in Membranes, 2012

Genotype and allele frequencies of divalent metal transporter 1 polymorphism in Turkish population.

Kayaalti Z et al.

Molecular Biology Reports, 2011

Identification of an "alpha-helix-extended segment-alpha-helix" conformation of the sixth transmembrane domain in DMT1.

Xiao S et al.

Biochimica Et Biophysica Acta, 2010

Study on structure and assembly of the third transmembrane domain of Slc11a1.

Xiao S et al.

Journal of Peptide Science : an Official Publication of the European Peptide Society, 2010

Mechanisms of brain iron transport: insight into neurodegeneration and CNS disorders.

Mills E et al.

Future Medicinal Chemistry, 2010

Mutations in the gene encoding DMT1: clinical presentation and treatment.

Iolascon A et al.

Seminars in Hematology, 2009

A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis.

Zhao R et al.

The Journal of Biological Chemistry, 2009

Natural history of recessive inheritance of DMT1 mutations.

Iolascon A et al.

The Journal of Pediatrics, 2008

Molecular genetic studies of DMT1 on 12q in French-Canadian restless legs syndrome patients and families.

Xiong L et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007

Cloning and functional characterization of the Anopheles albimanus DMT1/NRAMP homolog: implications in iron metabolism in mosquitoes.

Martínez-Barnetche J et al.

Insect Biochemistry and Molecular Biology, 2007

Functional properties of multiple isoforms of human divalent metal-ion transporter 1 (DMT1).

Mackenzie B et al.

The Biochemical Journal, 2007

The regulation of cellular iron metabolism.

Chua AC et al.

Critical Reviews in Clinical Laboratory Sciences, 2007

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.

Beaumont C et al.

Blood, 2006

Distinct targeting and recycling properties of two isoforms of the iron transporter DMT1 (NRAMP2, Slc11A2).

Lam-Yuk-Tseung S et al.

Biochemistry, 2006

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2).

Iolascon A et al.

Blood, 2006

Divalent metal-ion transporter DMT1 mediates both H+ -coupled Fe2+ transport and uncoupled fluxes.

Mackenzie B et al.

Pflugers Archiv : European Journal of Physiology, 2006

HFIP-induced structures and assemblies of the peptides from the transmembrane domain 4 of membrane protein Nramp1.

Xue R et al.

Biopolymers, 2006

Hereditary hemochromatosis: an opportunity for gene therapy.

Ezquer F et al.

Biological Research, 2006

Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake.

Priwitzerova M et al.

Blood, 2005

Carboxyl-terminus determinants of the iron transporter DMT1/SLC11A2 isoform II (-IRE/1B) mediate internalization from the plasma membrane into recycling endosomes.

Lam-Yuk-Tseung S et al.

Biochemistry, 2005

Divalent metal transporter 1.

Mims MP et al.

Hematology (amsterdam, Netherlands), 2005

NMR structures and orientation of the fourth transmembrane domain of the rat divalent metal transporter (DMT1) with G185D mutation in SDS micelles.

Li H et al.

Biopolymers, 2005

Structure, assembly, and topology of the G185R mutant of the fourth transmembrane domain of divalent metal transporter.

Li F et al.

Journal of the American Chemical Society, 2005

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.

Mims MP et al.

Blood, 2005

Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia.

Touret N et al.

Blood, 2004

A spontaneous, recurrent mutation in divalent metal transporter-1 exposes a calcium entry pathway.

Xu H et al.

Plos Biology, 2004

Iron transport by Nramp2/DMT1: pH regulation of transport by 2 histidines in transmembrane domain 6.

Lam-Yuk-Tseung S et al.

Blood, 2003

DMT1: a mammalian transporter for multiple metals.

Garrick MD et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2003

Expression of the iron transporter DMT1 in kidney from normal and anemic mk mice.

Canonne-Hergaux F et al.

Kidney International, 2002

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Jordens EZ et al.

Annals of Neurology, 2002

The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemia mk mice but is not properly targeted to the intestinal brush border.

Canonne-Hergaux F et al.

Blood, 2000

Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.

Griffiths W et al.

Human Molecular Genetics, 2000

Genes that modify the hemochromatosis phenotype in mice.

Levy JE et al.

The Journal of Clinical Investigation, 2000

Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2.

Stokkers PC et al.

Inflammatory Bowel Diseases, 2000

Phlebotomy increases cadmium uptake in hemochromatosis.

Akesson A et al.

Environmental Health Perspectives, 2000

The iron transport protein NRAMP2 is an integral membrane glycoprotein that colocalizes with transferrin in recycling endosomes.

Gruenheid S et al.

The Journal of Experimental Medicine, 1999

Inherited disorders of iron metabolism.

Födinger M et al.

Kidney International. Supplement, 1999

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