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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis.
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25475560 |
2015 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Paced DB was performed during one minute (six breaths/min) in 165 recordings in adult ATTRm amyloidosis patients with the TTR Val30Met mutation, 42 hypertrophic cardiomyopathy (HCM) patients and 211 healthy subjects.
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29394116 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Distinct therapies for V30M TTR amyloidosis developed during the last decade exhibit promising results in slowing the peripheral and autonomic nervous system pathology.
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29993288 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
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.
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2897192 |
1988 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis Patients.
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30327725 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Positive side effects, like improvement on orthostatic hypotension symptoms and well-being sensation, contributing to confirm erythropoietin as a drug of choice to treat anaemia in amyloidosis TTR V30M.
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18925459 |
2008 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The demonstration, in hereditary systemic transthyretin Val30Met amyloidosis, that such differences are consistently associated with amyloid fibrils composed of different length transthyretin fragments sheds new light on this question and will open the way to further informative studies.
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19061244 |
2009 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
In 102 patients with hereditary ATTR amyloidosis (85 Val30Met and 17 non-Val30Met; 37 and 65 from endemic and non-endemic areas, respectively), results of motor nerve conduction studies (MNCSs) with a 2-Hz low-cut filter in the unilateral ulnar and tibial nerves were retrospectively investigated to assess whether each MNCS parameter demonstrated demyelinating features that fulfil the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic (EFNS/PNS EDX) criteria for CIDP.
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30688105 |
2019 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations.
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30478886 |
2019 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Overall, our in vitro and in vivo studies establish an association between TTR V30M aggregates and autophagy impairment and suggest the use of autophagy modulators as an additional and alternative therapeutic approach for the treatment of TTR V30M-related amyloidosis.
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27382986 |
2016 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%).
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25828388 |
2015 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis.
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23225390 |
2012 |
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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
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0.100 |
GeneticVariation |
BEFREE |
Because leptomeningeal amyloidosis occurs in FAP ATTR Val30 Met as the progression of the disease, this information suggests that in addition to peripheral neuropathy, disorders of the central nervous system (CNS) should be given an attention in patients who underwent sequential liver transplantation using an explanted FAP ATTR Val30 Met patient's liver.
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11477356 |
2001 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Ten patients with biopsy-proven V30M ATTR amyloidosis and discrete or no signs of cardiac involvement were included.
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27645889 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Predominant symptom presentation in patients with hereditary TTR amyloidosis differed according to the underlying disease-causing mutation (polyneuropathy for Val30Met, cardiomyopathy for Val122Ile and Leu111Met, and mixed for Glu89Gln).
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23193944 |
2013 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The amyloid fibril in hereditary transthyretin (TTR) Val30Met (pVal50Met) amyloid (ATTR Val30Met) amyloidosis</span> is composed of either a mixture of full-length and TTR fragments (Type A) or of only full-length TTR (Type B).
|
30811423 |
2019 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The first liver transplantation for hereditary TTR amyloidosis was performed in Sweden in 1990 on a patient with ATTR Val30Met amyloidosis, and the result was encouraging.
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10827225 |
2000 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M.
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21358362 |
2011 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The aim was to study the cognitive performance of ATTR-FAP V30M patients with long disease course.
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28590781 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage.TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms.Phenotypic and genetic variability and non-disease-specific symptoms often delay diagnosis and lead to misdiagnosis.
|
29343286 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.
|
8857732 |
1996 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin.
|
10973857 |
2000 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation.
|
30295933 |
2019 |
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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
Patients with FMF amyloidosis carried only M694V mutations in the FMF gene, while FMF without amyloidosis featured other mutations as well.
|
22675837 |
2012 |