|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Amyloid fibril composition within hereditary Val30Met (p. Val50Met) transthyretin amyloidosis families.
|
30811423 |
2019 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.
|
30615214 |
2019 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
|
31019999 |
2019 |
|
rs28933979
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met).
|
29581083 |
2018 |
|
rs28933979
|
|
|
0.900 |
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 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Liver transplantation had beneficial effects on FAP clinical manifestations in patients with FAP TTR V30M.
|
26763274 |
2016 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
|
26286643 |
2016 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
|
27884058 |
2016 |
|
rs28933979
|
|
|
0.900 |
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
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The overall 5-year survival rate is approximately 100% for V30M patients and 59% for non-ATTR V30M patients.
|
25482846 |
2015 |
|
rs28933979
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
|
25060417 |
2014 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.
|
24101373 |
2013 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, SMT readily disappeared in the plasma of V30M - FAP patients after liver transplantation and appeared in plasma of transplanted domino individuals that received a V30M liver.
|
23387326 |
2013 |
|
rs28933979
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide.
|
21992998 |
2012 |
|
rs28933979
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide.
|
22094129 |
2011 |
|
rs28933979
|
|
|
0.900 |
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
|
|
|
0.900 |
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 |