|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis.
|
19286879 |
2009 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.
|
10953954 |
2000 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Granular bodies were absent from the duodenal sections of 8 C282Y negative subjects, from 2 C282Y heterozygotes and 3 C282Y homozygotes, with or without hemochromatosis.
|
10756357 |
2000 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
It is now largely accepted that the p.C282Y/p.C282Y genotype is necessary for the development of HFE haemochromatosis.
|
20607553 |
2010 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y mutation probably occurred on a single chromosome carrying the ancestral hemochromatosis haplotype, which subsequently was spread by emigration and the founder effect.
|
12791037 |
2003 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
More than 80% of hemochromatosis probands of Northern European descent are homozygous for the C282Y HFE gene mutation.
|
15147384 |
2004 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
In the present study, we tested the association between common variants in candidate genes and hemochromatosis penetrance, in a large sample of C282Y homozygotes, using pretherapeutic serum ferritin level as marker of hemochromatosis penetrance.
|
17847004 |
2007 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron transport in a lymphoid cell line with the hemochromatosis C282Y mutation.
|
11313265 |
2001 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.
|
21679129 |
2011 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
From a literature survey, the calculated hemochromatosis allele frequencies from 16 studies using phenotypic biochemical markers (threshold levels for transferrin saturation [range, 46%-70%] and serum ferritin [range, 164-700 microg/L]) were compared with allele frequencies of the Cys282Tyr mutation of the hemochromatosis gene reported in 19 genotypic studies.
|
12568299 |
2003 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have examined transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin for mutations that might modulate the iron burden of individuals harboring the common mutant hemochromatosis HFE genotype C282Y/C282Y or cause hemochromatosis independent of mutations in the HFE gene.
|
11783942 |
2003 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Heterozygosity for p.Cys282YTyr is not ordinarily associated with a hemochromatosis phenotype, unless associated in the compound heterozygous state with other HFE mutations.
|
20117027 |
2010 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to reassess the phenotypic diagnostic criteria for hemochromatosis in patients homozygous for the C282Y mutation of the HFE gene.
|
9453492 |
1998 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) have shown significant association with several neurological diseases.
|
22048270 |
2011 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?
|
10520044 |
1999 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Furthermore, Hfe is not regulated by therapeutic iron depletion in patients with hemochromatosis who are homozygous for the C282Y mutation.
|
10772870 |
2000 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
It is unclear whether screening of relatives of C282Y and H63D heterozygotes (other than compound heterozygotes) for hemochromatosis will detect sufficient numbers of cases to justify introduction of this screening strategy.
|
12121511 |
2002 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.
|
15447900 |
2004 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
About 80% of hemochromatosis patients are homozygous for the C282Y mutation in the HFE gene.
|
15074564 |
2004 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.
|
12846904 |
2003 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied 4 groups of 10 subjects each: (1) C282Y homozygotes without clinical hemochromatosis; (2) C282Y homozygotes with hemochromatosis; (3) secondary hemochromatosis (without C282Y mutation); and (4) controls.
|
12940442 |
2003 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical symptoms of hemochromatosis were absent in both the C282Y homozygote subjects.
|
15377292 |
2004 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
The cost-effectiveness and utility of large-scale screening for haemochromatosis have been questioned given that many individuals with the homozygous C282Y mutation do not have iron overload or end-organ damage.
|
12452931 |
2002 |
|
Hemochromatosis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?
|
11232708 |
2001 |