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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.
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18410945 |
2008 |
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rs28933979
|
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|
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.
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10611950 |
1999 |
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rs28933979
|
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|
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.
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20132088 |
2010 |
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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.
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15536615 |
2005 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
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31019999 |
2019 |
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rs28933979
|
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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 |
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rs28933979
|
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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
|
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0.100 |
GeneticVariation |
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
|
25060417 |
2014 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
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rs28933979
|
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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 |
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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 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
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rs28933979
|
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|
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 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
|
27884058 |
2016 |
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rs28933979
|
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|
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 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
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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 |
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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
|
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0.100 |
GeneticVariation |
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
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rs28933979
|
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|
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 |
|
rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Liver transplantation had beneficial effects on FAP clinical manifestations in patients with FAP TTR V30M.
|
26763274 |
2016 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.
|
30615214 |
2019 |
|
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 |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |