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rs28933979
|
|
|
0.100 |
GeneticVariation |
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 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
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 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
|
9843084 |
1998 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common amyloidogenic TTR variant is V30M-TTR, and L55P-TTR is the variant associated with the most aggressive form of FAP.
|
10551861 |
1999 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A matrix-assisted laser desorption ionization/time-of-flight (MALDI/TOF) mass spectrometry (MS) system was used to detect variant transthyretin (TTR) in immunoprecipitated serum TTR molecules obtained from 6 patients with familial amyloid polyneuropathy (FAP) who were already proven not to have ATTR Val30Met.
|
10611950 |
1999 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type.
|
11940682 |
2002 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, the presence of an autoantibody against ATTR Val30Met was evaluated via ELISA using purified ATTR Val30Met from homozygotic FAP patients' sera.
|
11907422 |
2002 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the therapeutic efficacy of liver transplantation in patients with ATTR Val30Met familial amyloid polyneuropathy (FAP), were repeatedly examined the neurophysiological function of peripheral nerves in nine patients.
|
12762137 |
2003 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) type I is caused by a mutated transthyretin (TTR V30M) and characterized by a sensorimotor and autonomic neuropathy.
|
15496172 |
2004 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
|
15523922 |
2004 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Autopsy findings in a 68-year-old FAP patient with a homozygous mutation of the Val30Met TTR gene were described.
|
15185500 |
2004 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.
|
15536615 |
2005 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.
|
15949223 |
2005 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
|
rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation.
|
18506713 |
2008 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using a series of aspirated abdominal fat tissues from 6 FAP patients with transthyretin (TTR) Val30Met variant, the severity of amyloid deposits was examined and the composition ratio of wild type-to-variant TTR in fat amyloid was assayed by liquid chromatography-ion trap mass spectrometry (LC-MS/MS).
|
18383093 |
2008 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.
|
18410945 |
2008 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We determined that SELDI-TOF MS was suitable for quantitative detection of ATTR V30M and demonstrated that the proportion of ATTR V30M to WT TTR was 46.6% in amyloid-laden cardiac tissue from an FAP patient who died 10 years after liver transplantation.
|
19372189 |
2009 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms.
|
20132088 |
2010 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide.
|
22094129 |
2011 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide.
|
21992998 |
2012 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, SMT readily disappeared in the plasma of V30M - FAP patients after liver transplantation and appeared in plasma of transplanted domino individuals that received a V30M liver.
|
23387326 |
2013 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
|
25060417 |
2014 |