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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR).
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28539873 |
2017 |
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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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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
This study did not link the M694V/M694V genotype to the renal complication despite the fact that it has been observed only in the patients with amyloidosis (3/27; 11%) (p = 0.349).
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27956278 |
2017 |
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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
Furthermore, the MEFV gene-mediated inflammatory pathway increased serum acute phase reactants, and the changes in the R202Q and M694V could play a role in inflammatory-genetic diseases, such as FMF, FMF-associated amyloidosis and chronic periodontitis.
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28590056 |
2017 |
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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
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27791951 |
2017 |
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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF.
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28196196 |
2017 |
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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
There were no differences in survival between patients with a grade 1, grade 2 or grade 3 99mTc-DPD scan in ATTRwt (n = 369), V122I-associated ATTRm (n = 92) or T60A-associated ATTRm (n = 59) amyloidosis.
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28159995 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation.
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26763274 |
2016 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We analyzed the relationship between the occurrence of acquired amyloidosis and clinical features in 22 consecutive domino liver donors with hereditary TTR amyloidosis (10 males and 12 females; mean age at DLT: 37.2 years; TTR mutations: V30M [n = 19], Y114C [n = 1], L55P [n = 1], and S50I [n = 1]) and 22 liver recipients (16 males and 6 females; mean age at DLT, 46.2 years).
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26600212 |
2016 |
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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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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
Unexpectedly, in our amyloidosis referral centre, we identified five patients (15.1% of all TTRm diagnosed patients, three families, two singleton) with Val142Ile variant belonging to unrelated families of Caucasian origin.
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26428663 |
2016 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy?
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26104852 |
2015 |
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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 |
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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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
Two patients with amyloidosis had the M694V homozygote genotype.
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24071932 |
2014 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
This phase II, open-label, single-treatment arm study evaluated the pharmacodynamics, efficacy, and safety of tafamidis in patients with non-Val30Met transthyretin (TTR) amyloidosis.
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24101373 |
2013 |
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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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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
Our results highlighted that cis-regulatory variants may contribute to the cardiac TTR-related amyloidosis observed in patients carrier of Val122Ile mutation, the most common in population with African origin.
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24111657 |
2013 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Nerve biopsy confirmed amyloid deposits in nerves, and molecular genetic analysis showed a mutation of the transthyretin (V30M) gene for 3 patients; the 2 other patients had acquired amyloidosis.
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22190302 |
2012 |
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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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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 |
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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
Patients with ATTR V122I were identified in collaboration with the UK National Amyloidosis Centre.
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22795285 |
2012 |
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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 |
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 |
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rs61752717
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0.100 |
GeneticVariation |
BEFREE |
Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.
|
20008920 |
2010 |