|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
One form of HH (type III) results from mutations in transferrin receptor-2 (TfR2).
|
29388418 |
2018 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TFR2 mutations in humans lead to HH Type 3, a rare but severe form of the disease.
|
29897731 |
2018 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
TFR2 HH is more intermediate in its age of onset and severity.
|
29743178 |
2018 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis.
|
28335084 |
2017 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described.
|
27896572 |
2017 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
We aim to present characteristics of patients diagnosed with TFR2-HH in the Netherlands, in order to increase knowledge and awareness of this disease.
|
28276324 |
2017 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.
|
26408288 |
2015 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we analyze multiple murine genetic models of iron dysregulation, including β-thalassemia intermedia (Hbb(th3/+)), hereditary hemochromatosis (Hfe(-/-), Hjv(-/-), and Tfr2(Y245X/Y245X)), hypotransferrinemia (Trf(hpx/hpx)), heterozygous transferrin receptor 1 deficiency (Tfrc(+/-)) and iron refractory iron deficiency anemia (Tmprss6(-/-) and Tmprss6(hem8/hem8)).
|
25425686 |
2015 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
|
26029709 |
2015 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The aim of this study is to assess the TFR2 role in non-HFE HH pathogenesis.
|
24055163 |
2014 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
|
23600741 |
2013 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using mouse models for hereditary hemochromatosis (Hfe-, TfR2-, Hfe/TfR2-, Hjv- and hepcidin1-deficient mice) we show that hepcidin, Smad6 and Smad7 mRNA expression is coordinated in such a way that it correlates with the activity of the Bmp/Smad signaling pathway rather than with liver iron levels.
|
22960056 |
2013 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hereditary hemochromatosis and transferrin receptor 2.
|
21864651 |
2012 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Disruption of hemochromatosis protein and transferrin receptor 2 causes iron-induced liver injury in mice.
|
22383097 |
2012 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition to HFE gene, mutations in the genes that encode hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) have been associated with regulation of iron homeostasis and development of HH.
|
22408404 |
2012 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
|
21411349 |
2011 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH.
|
19759876 |
2009 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.
|
18094142 |
2008 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We focused on two biologically relevant gene categories: genes involved in non-HFE GH (TFR2, HAMP, and SLC40A1) and genes involved in the regulation of hepcidin expression, including genes from the bone morphogenetic protein (BMP) regulatory pathway (BMP2, BMP4, HJV, SMAD1, SMAD4, and SMAD5) and the IL6 gene from the inflammation-mediated regulation pathway.
|
17847004 |
2007 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Iron absorption and hepatic iron uptake are increased in a transferrin receptor 2 (Y245X) mutant mouse model of hemochromatosis type 3.
|
16935854 |
2007 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
CTD_human |
Targeted disruption of the hepatic transferrin receptor 2 gene in mice leads to iron overload.
|
17241880 |
2007 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An adult onset form of HH similar to HFE-HH is caused by homozygosity for mutations in transferrin receptor 2.
|
17729390 |
2007 |
|
Hereditary hemochromatosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the transmembrane glycoproteins transferrin receptor 2 (TfR2) and HFE are associated with hereditary hemochromatosis.
|
17956864 |
2007 |
|
Hereditary hemochromatosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This report adds two more type 3 hereditary hemochromatosis cases which suggest that TFR2 mutations could be more frequently involved in non-HFE hemochromatosis than has been actually thought.
|
16923517 |
2006 |