Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Iron accumulation after SCI resulted in the upregulation of transferrin receptor (TfR) and divalent metal transporter1 (DMT1), which exacerbated the intracellular iron overload.
|
31518742 |
2019 |
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tfr1, Dmt1, ferritin and ferroportin1 exist in bone tissue of rats, and they may be involved in the pathological process of iron overload-induced bone lesion.
|
30027360 |
2018 |
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
An altered pattern of iron transporters with iron overload is highlighted in BPAN human fibroblasts, supporting for a role of DMT1 in NBIA.
|
28261264 |
2017 |
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
Treatment with LTCC, TTCC, DMT1 blockers, and DFO reduced cardiac iron deposit, cardiac malondialdehyde (MDA), plasma non-transferrin-bound iron, and improved heart rate variability and left ventricular (LV) function in thalassemic mice with iron overload.
|
22404220 |
2012 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm the major role of DMT1 in the maintenance of iron homeostasis in humans and demonstrate that the N491S mutation, through its deleterious effect on protein trafficking, contributes together with the G212V mutation to the development of anemia and hepatic iron overload.
|
21871825 |
2011 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Not all DMT1 mutations lead to iron overload.
|
19553145 |
2009 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This activity may explain the distinguishing iron overload seen in this patient in addition to microcytic anemia that is absent in parallel rodent models of DMT1 deficiency.
|
16023393 |
2006 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We propose that DMT1(C1246T) (R416C) represents a complete loss-of-function, and that a quantitative reduction in DMT1 expression is the cause of the microcytic anemia and iron overload in the patient.
|
16584902 |
2006 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a compound heterozygote for 2 new DMT1 mutations, associated with microcytic anemia from birth and progressive liver iron overload.
|
16439678 |
2006 |
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The importance of DMT1 function at the level of the whole organism and the individual cell and mechanisms of its regulation on a molecular scale are only beginning to be understood; an appreciation of these process will lead to an understanding of the role of iron in various cellular processes and improved treatments for both anemia and iron-overload.
|
16085548 |
2005 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
|
15459009 |
2005 |
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic variability seen amongst a group of C282Y homozygotes with iron overload.
|
15223008 |
2005 |
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of DMT1 may play an important role in the pathogenesis of cirrhosis-associated hepatic iron overload.
|
14768003 |
2004 |
Iron Overload
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, the lack of correlation between DMT1 and Ireg1 protein expression and the liver iron content suggests that elevated duodenal iron transporter expression is not required for high liver iron overload.
|
14618243 |
2004 |
Iron Overload
|
0.100 |
Biomarker
|
disease |
BEFREE |
The identification of the HFE gene and the apical iron transporter divalent metal transporter-1, DMT-1, provide a direct method to address the mechanisms of iron overload in this disease.
|
12547214 |
2003 |