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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Demographic and clinical data at the time of enrolment for Brazilian subjects with symptomatic V30M ATTRv-PN were extracted from the ongoing, multinational, longitudinal, observational Transthyretin Amyloidosis Outcomes Survey (THAOS; cut-off date: January 30, 2017).
|
31163298 |
2019 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families.
|
30811423 |
2019 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our case suggests that serial native T1 and extracellular volume may be novel non-invasive imaging methods to monitor the treatment response to TTR stabilizers in cardiac amyloidosis and also that tafamidis may be effective in suppressing cardiac progression in TTR amyloid cardiomyopathy with Val30Met mutation.
|
30478886 |
2019 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease.
|
27992035 |
2017 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation.
|
26984605 |
2016 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The overall 5-year survival rate is approximately 100% for V30M patients and 59% for non-ATTR V30M patients.
|
25482846 |
2015 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant.
|
25091367 |
2015 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
|
25743445 |
2015 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.
|
24101373 |
2013 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles.
|
23185504 |
2012 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The V30M to wild type TTR ratio in plasma is the same for all ATTR patients studied, showing no variation with disease clinical progression.
|
22080762 |
2011 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
|
20937937 |
2011 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Three of the 46 cases with HCM carried the Val30Met mutation, and were considered likely to have cardiac amyloidosis, like the index case.
|
16115295 |
2005 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report.
|
15523922 |
2004 |
|
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 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The method was successfully tested using serum from ATTR patients with known variants (Val30-->Met and Val122-->Ile).
|
9949732 |
1999 |