|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.
|
11887210 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress.
|
23512844 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Higher brain iron levels are associated with male gender and presence of highly prevalent allelic variants in genes encoding for iron metabolism proteins (hemochromatosis H63D (HFE H63D) and transferrin C2 (TfC2)).
|
21389980 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Survival did not differ across the decades in cirrhotic patients; hepatocellular carcinoma occurred similarly in HFE and non-HFE patients.
|
20101754 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
|
10401000 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G>A and c.718A>G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively.
|
21175851 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.
|
23990522 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The correlation between HLA-inferred and HFE genotypes and the variation of serum iron tests according to HFE genotype and other factors were studied in persons from well-characterized hemochromatosis pedigrees.
|
12210292 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To test whether similar HFE residues are important for both TfR1 and TfR2 binding, a mutant form of HFE (W81AHFE) that has an approximately 5,000-fold lower affinity for TfR1 than HFE was employed.
|
17956864 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Carriers of HFE gene variants (N = 24) had significantly higher mtDNA levels than noncarriers (N = 61), after adjusting for age, race, sex, and type of ART [adjusted β-coefficient 297, p-value < .001 for at least one HFE variant], but mtDNA declined among all individuals on study during 48 weeks on ART.
|
29968489 |
2018 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The effect of five different transferrin variants (TFv1, TFv2, TFv3, TFv4, and TFv5) on the hemoglobin level, mean corpuscular volume (MCV), ferritin level, percent transferrin saturation (%TS), and the unsaturated iron binding capacity (UIBC) was investigated in subjects with defined HFE haplotypes, 919 persons undergoing health screening and 113 patients with clinical hemochromatosis.
|
10660486 |
2000 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
|
25457201 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
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, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
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, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations in the HFE gene are present in most patients with hemochromatosis.
|
14673391 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis.
|
25495562 |
2015 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Current directions in hemochromatosis research: towards an understanding of the role of iron overload and the HFE gene mutations in the development of clinical disease.
|
12638463 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
|
9106528 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
|
14633868 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conditional probabilities were determined using published Australian allele frequencies and penetrance data to determine the detection rate of hemochromatosis by testing the siblings and offspring of heterozygotes (subjects with only one HFE mutation).
|
12121511 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Subjects with hemochromatosis are valuable as blood donors independent of their HFE genotype.
|
20345568 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The identification of the HFE gene involved in hemochromatosis allows genetic tests based on mutation analysis to be performed.
|
10870847 |
2000 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that uncommon HFE exon and intron mutations may be discovered among hemochromatosis patients who have "atypical" HFE genotypes.
|
10575540 |
1999 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.
|
9024376 |
1997 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients.Am.J. Hematol.91:1202-1205, 2016.
|
27518069 |
2016 |