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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 |
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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 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Ten of 92 TTR V122I carriers with heart failure (11%) were diagnosed as having hATTR-CM; the median time from onset of symptoms to clinical diagnosis was 3 years.
|
31821430 |
2019 |
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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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rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent.
|
28102864 |
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 |
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rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Afro-Caribbean Heart Failure in the United Kingdom: Cause, Outcomes, and ATTR V122I Cardiac Amyloidosis.
|
27618855 |
2016 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The focus was on the phenotypic expression and survival in the majority of U.S. subjects with valine-to-isoleucine substitution at position 122 (Val122Ile) (n = 91) and wild-type ATTR (n = 189).
|
27386769 |
2016 |
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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 |
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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 |
|
rs76992529
|
|
|
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 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
|
24184229 |
2014 |
|
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 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Till now, very few Caucasian cases of p.Val122Ile mutated TTR-related cardiac amyloidosis have been reported.
|
22449240 |
2012 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The widely held belief that cardiac amyloidosis is associated with low-voltage complexes is likely to contribute to underdiagnosis of ATTR V122I.
|
22795285 |
2012 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).
|
22877808 |
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 |
|
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 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS).
|
21191093 |
2011 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The observations suggest that TTR V122I represents a substantial risk for clinically significant cardiac amyloidosis in elderly African American men, behaving as an age-dependent autosomal dominant disease-associated allele.
|
21600538 |
2011 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The following were performed: genotyping of banked DNA for TTR V122I allele status and review of cardiovascular and demographic parameters in CHS and ARIC databases, with statistical comparisons of the frequency of congestive heart failure, survival, and occurrence of features of cardiac amyloidosis in carriers of the amyloidogenic allele and controls.
|
20435197 |
2010 |
|
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 |