|
HEMOCHROMATOSIS, TYPE 3
|
|
0.030 |
GeneticVariation
|
BEFREE |
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls.
|
17298224 |
2006 |
|
HEMOCHROMATOSIS, TYPE 3
|
|
0.030 |
GeneticVariation
|
BEFREE |
Five TFR2 homozygous mutations have been documented in HFE3 patients: a nonsense mutation (Y250X); a C insertion that causes a frameshift and a premature stop codon (E60X); a missense mutation (M172K); a 12 basepair deletion in exon 16, that causes 4 aminoacid loss (AVAQ 594-597del) in the extracellular domain of TFR2; a missense mutation in exon 17 (Q690P).
|
12547237 |
2003 |
|
Hemochromatosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease.
|
12547237 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease.
|
12547237 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis.
|
11551099 |
2001 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --> G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis.
|
11358388 |
2001 |
|
HEMOCHROMATOSIS, TYPE 3
|
|
0.030 |
GeneticVariation
|
BEFREE |
Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X).
|
11313241 |
2001 |
|
Hemochromatosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis.
|
11551099 |
2001 |
|
Hemochromatosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis.
|
11551099 |
2001 |
|
Hemochromatosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
A mutation of the transferrin receptor-2 gene (TFR2; exon 6, nt 750 C --> G, replaces TAC with stop signal TAG; Y250X) on Ch7q22 was recently identified in two Sicilian families with HFE mutation-negative hemochromatosis.
|
11358388 |
2001 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis.
|
11551099 |
2001 |
|
Hemochromatosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.
|
11358388 |
2001 |
|
HEMOCHROMATOSIS, TYPE 1
|
|
0.030 |
GeneticVariation
|
BEFREE |
We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.
|
11358388 |
2001 |
|
Porphyria Cutanea Tarda
|
|
0.020 |
GeneticVariation
|
BEFREE |
To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes.
|
18565178 |
2008 |
|
Porphyria Cutanea Tarda
|
|
0.020 |
GeneticVariation
|
BEFREE |
By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls.
|
17298224 |
2006 |
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease.
|
12547237 |
2003 |
|
Iron Overload
|
|
0.020 |
GeneticVariation
|
BEFREE |
We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.
|
11358388 |
2001 |
|
Hepatitis C
|
|
0.010 |
GeneticVariation
|
BEFREE |
To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes.
|
18565178 |
2008 |
|
Adult Acute Lymphocytic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Leukemia, Myelocytic, Acute
|
|
0.010 |
GeneticVariation
|
BEFREE |
We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).
|
15863206 |
2005 |
|
Hereditary hemochromatosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, the Y250X mutation could be the molecular defect responsible for hereditary hemochromatosis in subjects with atypical HFE genotypes.
|
11358390 |
2001 |