|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
While mutation in the hemochromatosis ( HFE) gene disrupts iron homeostasis and promotes oxidative stress that increases the risk of neurodegeneration, it is largely unknown whether HFE mutation modifies GABAergic homeostasis and emotional behavior.
|
30277817 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
|
30913256 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HFE gene have been shown to be associated with hemochromatosis which is observed in beta-thalassemia major.
|
31679808 |
2019 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood.
|
30389309 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
|
31422818 |
2019 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests.
|
30340937 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HFE-hemochromatosis is a disease characterized by a systemic iron overload phenotype mainly associated with mutations in the HFE protein (HFE) gene.
|
31132316 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The homeostatic iron regulator <i>HFE</i> (hemochromatosis) mutation, which has been shown to affect iron absorption and iron overload, is hypothesized to be related to lead intoxication in vulnerable individuals.
|
30691187 |
2019 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cellular iron excess in HFE and non-HFE forms of haemochromatosis is caused by increased concentrations of plasma iron, which can lead to the accumulation of iron in parenchymal cells, particularly hepatocytes, pancreatic cells and cardiomyocytes.
|
29620054 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.
|
29589198 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected.
|
29722188 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.
|
30145563 |
2018 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFE hemochromatosis and compared to age- and sex-matched controls.
|
30427934 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene.
|
28771247 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of hemochromatosis in HS is extremely rare, and previous reports have shown that the coexistence of heterozygosity for the HFE gene mutation in HS patients causes excess iron storage.
|
29563373 |
2018 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our study confirms that women with HFE hemochromatosis were diagnosed later than men cared for during the same period (52.6 vs. 47.4 y., P < 0.001).
|
29454332 |
2018 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.
|
29195602 |
2017 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.
|
27784128 |
2017 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability.
|
28678636 |
2017 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
HFE, one of the most common autosomal recessive polymorphisms in the Caucasian population, originally associated with hemochromatosis, has also been associated with increased tumor burden, therapeutic resistance boost, and negative impact on patient survival.
|
28527894 |
2017 |
|
Hemochromatosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
From the hemochromatosis clinic cohort, six patients were diagnosed with non-HFE hemochromatosis due to homozygous hemojuvelin (HFE2) mutations.
|
27753142 |
2017 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
We evaluated if the genetic disruption of Nrf2 would prompt the development of liver damage in Hfe<sup>-/-</sup> mice (an established model of human HFE-hemochromatosis).
|
27936457 |
2017 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Molecular and clinical genetic studies have led to the identification of genes other than HFE in patients with inherited diseases associated with increased hepatic iron storage that can cause hemochromatosis, which adds complexity to a diagnostic approach to patients with suspected hemochromatosis.
|
27170390 |
2017 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Periodontal status and serum biomarker levels in HFE haemochromatosis patients. A case-series study.
|
28586532 |
2017 |
|
Hemochromatosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy.
|
28111337 |
2017 |