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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
The Val30 --> Met30 (V30M) TTR mutation is the most prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas a Thr119 --> Met119 (T119M) mutation on the second TTR allele protects V30M carriers from disease.
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11577236 |
2001 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.
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18460047 |
2008 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We report an autopsy study of late-onset familial amyloid polyneuropathy with a variant transthyretin Val30Met in 2 brothers living in Kyoto, Japan.
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14640033 |
2003 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area.
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25060417 |
2014 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.
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9843084 |
1998 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Clinical pictures of familial amyloid polyneuropathy (FAP) vary considerably, perhaps because of the many gene mutations of transthyretin (TTR), but even in patients having the most common mutation of TTR (the substitution of methionine for valine at position 30 (ATTRVal30Met)), the age of onset ranges from the late 20s to the early 60s.
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17701472 |
2007 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.
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20132088 |
2010 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy.
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19626479 |
2009 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Since liver transplant (LT) was introduced to treat patients with familial amyloid polyneuropathy carrying the V30M mutation (ATTR-V30M), ocular and cardiac complications have developed.
|
25091367 |
2015 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy.
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29115008 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.
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30333157 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
|
19709674 |
2009 |
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rs28933979
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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 |
Amyloidogenic transthyretin Val30Met homozygote showing unusually early-onset familial amyloid polyneuropathy.
|
18506713 |
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.
|
10611950 |
1999 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We show that NUCB1 inhibits aggregation of islet-amyloid polypeptide associated with type 2 diabetes mellitus, a-synuclein associated with Parkinson's disease, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Aβ42 associated with Alzheimer's disease by stabilizing their respective protofibril intermediates.
|
28220836 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy.
|
27878441 |
2017 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: A phase III, open-label study.
|
26944161 |
2016 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).
|
28813711 |
2017 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas.
|
22228785 |
2012 |
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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 |
Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients.
|
27884058 |
2016 |
|
rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.
|
21463231 |
2011 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan.
|
14640041 |
2003 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?
|
30019395 |
2018 |