|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We describe a novel heterozygous mutation in exon 3 of the HFE-gene that was co-inherited with Cys282Tyr in two unrelated Dutch men both presenting a classical form of hereditary hemochromatosis.
|
18042412 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis.
|
19030706 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE is a gene with the polymorphisms C282Y and H63D, which are associated with a progressive iron accumulation in the organism leading to a disease called hereditary hemochromatosis.
|
18273820 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Consequently, we propose that HH associated with the C282Y HFE mutation should be considered a conformational disorder.
|
17904763 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Most adults affected with HFE hereditary hemochromatosis (HH type 1, MIMmusical sharp 235200) are homozygous for the p.Cys282Tyr mutation in HFE (NC_000006.10, region 26195427 to 26205038).
|
18157833 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The data show that expression of C282Y HFE triggers a stress-protective response in HepG2 cells and suggest a role for calreticulin as a modifier of the clinical expression of HH.
|
18045552 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We determined whether the rise in post-prandial serum iron is increased in fully treated patients with hereditary haemochromatosis (HFE C282Y+/+; HH) compared to iron deficiency anaemia (IDA), iron-replete heterozygous subjects (HFE C282Y+/-) and iron-replete controls (HFE C282Y-/-).
|
18276042 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compound heterozygotes have milder disease than C282Y homozygotes and clinical signs of HH in these patients are usually associated with other factors such as alcoholism and the dysmetabolic syndrome.
|
19034258 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998.
|
18525129 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Together, these data shed light on the molecular mechanisms involved in HFE C282Y-related HH and open new perspectives on the use of orally active chemical chaperones as a therapeutic approach for HH.
|
17626021 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in hereditary hemochromatosis: a case report and review of the literature.
|
18189029 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE-related hereditary haemochromatosis (HH) is an iron overload disease attributed to the highly prevalent homozygosity for the C282Y mutation in the HFE gene.
|
18079564 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied the relationship between iron removed by venesection, sex, age, and clinical characteristics in a group of 100 Spanish probands with hereditary hemochromatosis (HH), all C282Y homozygous in the HFE gene.
|
17639389 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The homozygous p.C282Y variant of the HFE gene is a major risk factor for hereditary hemochromatosis, a disorder of iron metabolism resulting in progressive iron accumulation in a variety of organs including the pancreas.
|
17666895 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Liver biopsy is recommended when ferritin exceeds 1000 microg/l to establish the presence or absence of cirrhosis, which will affect prognosis and management. iron accumulation confirmed by magnetic resonance imaging (MRI) in the absence of the homozygous C282Y mutation or the combined C282Y/H63d genotype may justify a search for rare hereditary forms of non-HFE HH in a specialised centre.
|
18079569 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this study we show that, morbidity among first-degree family members of C282Y-homozygous probands previously diagnosed with clinically proven HH is higher than that in an age- and gender-matched normal population.
|
18079565 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The C282Y mutation in the HFE gene is responsible for most cases of hereditary haemochromatosis.
|
17661761 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations.
|
17847004 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Liver is the primary target organ of Hereditary Hemochromatosis Type I, with the HFE mutations C282Y and H63D recognized as markers of this iron-overload disease.
|
17428702 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The observed frequency of C282Y homozygotes in the group of HH patients was only 48%, others were of the heterogeneous HFE genotype.
|
18036208 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The results from previous phenotypic population screening for hereditary hemochromatosis were combined with findings in hospital databases in order to estimate the number of C282Y homozygotes with and without liver cirrhosis in a Norwegian county.
|
17710673 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
One hundred and thirty-nine subjects diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), and 18 normal subjects heterozygous for the H63D mutation served as age- and sex-matched controls.
|
17767550 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hemochromatosis and iron overload screening (HEIRS) Study is an ongoing, multiethnic, primary care-based study of 101,168 North American adults, including 12,772 Asians, a group that the HEIRS Study found has a significantly higher than expected prevalence of elevated serum TS and SF but very low prevalence of the common C282Y and H63D HFE alleles usually associated with hereditary hemochromatosis.
|
17240320 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is primarily associated with the C282Y mutation; the importance of H63D is not well known.
|
17450498 |
2007 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
With the objective of testing the modifier effect of the individual CD8+ T-lymphocyte profile on the levels of iron stores with age in HH, we reviewed the clinical and immunological data from a group of well-characterized C282Y homozygous HH subjects, regularly followed-up for a period of 20 years.A total of 70 subjects were analyzed.
|
16762569 |
2006 |