|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic analysis of the length of the Cfr13 I-restriction fragment confirmed the base change, and made it possible to detect the mutant TTR Gly42 gene in the FAP subjects.
|
1353861 |
1992 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The level of the variant TTR (methionine instead of valine at position 30) in his serum was much higher than that usually found in type I FAP patients.
|
1490495 |
1992 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum.
|
1517749 |
1992 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
In most types of FAP syndromes the accumulating protein is a transthyretin variant.
|
1652889 |
1991 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the patients with type I FAP are known to have an amyloid protein precursor (a variant of transthyretin) in serum.
|
1858483 |
1991 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease, and the major component of the amyloid fibrils from FAP patients was shown to be variants of transthyretin (TTR) with single amino acid substitutions.
|
2559819 |
1989 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study indicated that the valine-methionine change prealbumin gene was closely related to the clinical features of type 1 FAP.
|
2707291 |
1989 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that factors other than the rate of transfer of the variant form prealbumin from plasma to an extravascular compartment may play a critical role in the pathogenesis of amyloid deposition in FAP patients.
|
2774586 |
1989 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
The CSF concentration of total transthyretin in FAP patients was 1.74 +/- 0.42 mg/dl, which was not significantly different from controls.
|
3039062 |
1987 |
|
Adenomatous Polyposis Coli
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The variant TTR level is measured in 24 children of 15 FAP1 patients as well.
|
3457802 |
1986 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
In contrast, TTR(Met30) was relatively enriched in cerebrospinal fluid samples from two FAP patients.
|
3908483 |
1985 |
|
Adenomatous Polyposis Coli
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Lowered prealbumin levels in patients with familial amyloid polyneuropathy (FAP) and their non-affected but at risk relatives.
|
4038581 |
1985 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The prealbumin variant in the serum is identical to the prealbumin variant derived from amyloid fibrils of a Japanese FAP patient.
|
6087810 |
1984 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have developed a highly sensitive and specific method for quantitative analysis of the prealbumin variant in the sera of FAP patients by using radioimmunoassay for a nonapeptide corresponding to subsequence [22-30] of the prealbumin variant.
|
6087811 |
1984 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
The variant TTR was also found to be present in serum samples from FAP patients, along with larger amounts of normal TTR.
|
6099706 |
1984 |
|
Adenomatous Polyposis Coli
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The TTR levels in 24 FAP patients were approximately two thirds of those of a group of 18 control subjects from the same geographic area.
|
6311926 |
1983 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology.
|
7577941 |
1995 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
The diagnosis of type I FAP was based on the presence of a biochemical marker in the plasma (TTR-Met-30 in 11 patients, TTR-Ala-71 in two).
|
7627523 |
1995 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several TTR variants have been reported in association with familial amyloid polyneuropathy (FAP) and the characterization of the mutations is crucial for understanding the process of amyloidogenesis.
|
7633183 |
1995 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We propose an approach to molecular diagnosis in European patients with FAP, apart from members of families with known mutations, based on the frequency of TTR mutations observed in this and and other studies of FAP in Europe.
|
7655883 |
1995 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Liver transplantation looks promising as a treatment for TTR-related FAP.
|
7804455 |
1994 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
This is the first FAP family of Taiwanese origin demonstrating a causative gene abnormality, and FAP with TTR-Pro55 was considered to be more serious compared with other forms of FAP.
|
7910950 |
1994 |
|
Adenomatous Polyposis Coli
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
There was no correlation between the serum levels of variant TTR and the duration of disease or levels of serum albumin in the FAP-patients.
|
8095120 |
1993 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
There are now approximately 26 point mutations in the transthyretin gene associated with FAP.
|
8293178 |
1993 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Amyloid deposition within the PINS in this type of FAP resembled that in type I FAP (TTR Met30).
|
8560986 |
1995 |