Amyloidosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Transthyretin-related hereditary (TTR) amyloidoses represent a clinically heterogeneous group of diseases associated with various point mutations of the TTR gene.
|
1353040 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the serum protein transthyretin (TTR) cause amyloidosis involving the peripheral nerves, heart, and other organs.
|
1358785 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Familial or sporadic CTS or unexplained vitreous opacification suggest the possibility of TTR amyloidosis and should prompt a search for TTR mutations.
|
1436517 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our finding indicates the importance of position 30 in TTR-derived amyloid fibril formation.
|
1520326 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) is a dominantly inherited form of amyloidosis usually associated with an abnormal transthyretin (TTR), previously known as prealbumin.
|
1544214 |
1992 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, the behavior of the transmissible brain amyloidosis parallels completely that of the transthyretin amyloidoses causing familial amyloidotic polyneuropathy, in which there are 19 different point mutations, each one of which increases enormously the likelihood of configurational change of transthyretin prealbumin to amyloid.
|
1684758 |
1991 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Amyloid material was demonstrated on bone biopsy and confirmed immunohistochemically to be transthyretin (prealbumin).
|
1772300 |
1991 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Histories and physical examinations showed no evidence of amyloidosis, as has been observed with other variants of prealbumin.
|
1877623 |
1991 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.
|
1978774 |
1990 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Amyloid and the mutant form of prealbumin characteristic of FAP 1, TTR Met 30, were shown to be present in the vitreous.
|
2060679 |
1991 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Transthyretin was isolated from amyloid-laden myocardium and serum, and tryptic peptides were resolved by high-performance liquid chromatography.
|
2122246 |
1990 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, seven different single amino acid mutations in the plasma protein prealbumin (transthyretin) have been found to be associated with amyloidosis and each is the result of a single nucleotide change in the prealbumin gene.
|
2154345 |
1990 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant amyloidosis, also known as familial amyloidotic polyneuropathy (FAP), is a late-onset disorder associated with variants of the protein prealbumin.
|
2877582 |
1986 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
This is the sixth prealbumin variant implicated in amyloidosis, and adds to the accumulating evidence that the prealbumin amyloidoses are more varied and prevalent than previously thought.
|
2891727 |
1988 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States.
|
2897192 |
1988 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The results of this study strongly suggest that the amyloid fibril protein in FAP type IV amyloidosis is related to transthyretin.
|
3258117 |
1988 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The immunoperoxidase method, the autoclave method, and a newly developed alkaline-guanidine method were used to distinguish senile (SSA) and familial types (FAP) of prealbumin-related amyloidosis in formalin-fixed, paraffin-embedded tissue sections.
|
3717296 |
1986 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In recent years prealbumin has been shown to be a major component of two forms of systemic amyloid, senile systemic amyloid (SSA), and familial amyloidotic polyneuropathy (FAP).
|
3818987 |
1987 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis of the isolated peptides confirms this observation and shows that the 3 Brazilian families investigated in our study have the same prealbumin variant as individuals with amyloidosis of Swedish/American, Portuguese and Japanese origins.
|
3820203 |
1986 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By radioimmunoassay, the serum level of prealbumin was measured in 25 patients from 12 different kinships with this dominantly inherited form of amyloidosis and 56 unaffected, but at risk, relatives from two of the kinships.
|
4038581 |
1985 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Amyloid deposits in several heredofamilial forms of amyloidosis are chemically related to transthyretin (TTR, the protein usually referred to as prealbumin).
|
6099706 |
1984 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, a prealbumin variant and its fragments constitute the amyloid fibrils in a heredofamilial amyloidosis syndrome of dominant inheritance.
|
6300852 |
1983 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Amyloid deposits in several heredofamilial forms of amyloidosis are known to be chemically related to transthyretin (TTR, the plasma protein usually referred to as prealbumin).
|
6311926 |
1983 |