Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia.
|
31582975 |
2019 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported.
|
29676214 |
2018 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
F = free; FDH = familial dysalbuminemic hyperthyroxinemia; HPLC = high-performance liquid chromatography; HSA = human serum albumin; PCR = polymerase chain reaction; SITSH = syndrome of inappropriate secretion of TSH; T = total; T3 = triiodothyronine; T4 = thyroxine; TSH = thyroid-stimulating hormone; WT = wild-type.
|
28816534 |
2017 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH.
|
27834068 |
2017 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH.
|
27834068 |
2017 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This patient, who harbored the p.R218P mutation in the albumin gene, is the fifth case report of FDH in Japan.
|
27904073 |
2017 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial dysalbuminaemic hyperthyroxinaemia is an important cause of discordant thyroid function test results (due to an inherited albumin variant); however, the diagnosis can be challenging.
|
26169058 |
2016 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
|
24494774 |
2014 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
(125)I-T4 binding to both serum and albumin in affected individuals was markedly increased, comparable with known familial dysalbuminemic hyperthyroxinemia cases.
|
24646103 |
2014 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a pregnant Japanese woman with FDH caused by the mutant albumin R218P.
|
15068631 |
2004 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Structural basis of albumin-thyroxine interactions and familial dysalbuminemic hyperthyroxinemia.
|
12743361 |
2003 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations.
|
14660816 |
2003 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that the same mutation in the albumin gene that results in FDH has been found in 13 unrelated families.
|
12099390 |
2002 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis of the patient revealed R218H, a mutation in the serum albumin gene associated with FDH, which was also present in the patient's euthyroid father and brother.
|
11743520 |
2001 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
|
10946882 |
2000 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our studies demonstrated that the point mutation of the albumin gene in a Chinese patient with FDH was similar to that found in western white families, but differed from that in a Japanese family in whom a guanine to cytosine transition at the same position was found.
|
10526251 |
1999 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
|
9589637 |
1998 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects.
|
9329347 |
1997 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects.
|
9329347 |
1997 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
CTD_human |
In all FDH-affected Caucasian subjects from 10 unrelated families with a moderate increase in serum T4, the guanine to adenine transition was demonstrated at the same position of the albumin gene as noted in our patients, but histidine, the replacement amino acid, differed from proline noted in our FDH Japanese subjects.
|
9329347 |
1997 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia.
|
8702585 |
1996 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
The free T4 estimate had been elevated artefactually by the increased affinity of FDH albumin for the analog in a one-step assay.
|
8548059 |
1995 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here we show linkage between FDH and the albumin gene in a large Amish family of Swiss descent, using as markers a SacI polymorphism in the coding sequence of the albumin gene and the group-specific component (Gc) gene, located less than 1 centimorgan from the albumin gene.
|
7829599 |
1995 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The slightly lower pI of the FDH-specific bands is consistent with the His for Arg substitution predicted by a G to A base transition recently reported in codon 218 of the gene for the variant albumin (Alb-FDH).
|
7852505 |
1995 |
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study a protein expression system was used to synthesize recombinant human serum albumin containing a mutation that has been shown to result in familial dysalbuminemic hyperthyroxinemia.
|
7575519 |
1995 |