|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis.
|
31118583 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations.
|
30737830 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This approach can be applied to investigate the modulation effect of tafamidis on other rare TTR variants and help to make individualized choices of available treatments for FAP patients.
|
31502419 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathy (FAP) or ATTRv (amyloid TTR variant) amyloidosis is a fatal hereditary disease characterized by the deposition of amyloid fibrils composed of transthyretin (TTR).
|
31253122 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
<b>Background</b>: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin.
|
31576772 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For ATXN2, the presence of at least 1 allele longer than 22 CAGs was significantly associated with an earlier onset in TTR-FAP Val30Met, decreasing mean AO by 6 years (95% confidence interval = -8.81 to -2.19, p = 0.001).
|
30615214 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR)-familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutations in the TTR gene.
|
31760657 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age-at-onset (AO), including within families.
|
31019999 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
So far, no case with FAP from Mainland China was reported with a heterozygous missense mutation c.349G>T in the Transthyretin (TTR) gene.
|
30361054 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
The Neuropad test could be used to detect TTR-FAP onset, but confirmation requires electrochemical skin conductance and WDT measurement.
|
30102818 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants.
|
30470998 |
2019 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inotersen: First Global Approval.
|
30120737 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathy (FAP) is a genetic disease leading to the production of a variant transthyretin (TTR) or a beta variant β2-microglobulin.
|
30161158 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Evidences suggest that transthyretin (TTR), a plasma protein associated with transthyretin amyloidosis or familial polyneuropathy (FAP) interacts with heterologous amyloid proteins including amyloid beta and islet amyloid polypeptide.
|
29593496 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To identify modifiers closely linked to the TTR locus that may in part be associated with age at onset of FAP ATTRV30M, in particular in a group of very early-onset patients (≤30 years) when compared with late-onset individuals.
|
28527106 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Liver transplantation (LT) is the first-line therapy in patients with transthyretin (TTR) amyloidosis and progressive familial amyloid polyneuropathy (FAP).
|
30091268 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Biopsy samples are an asset in diagnosing TTR-FAP but can be falsely negative.
|
29524093 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that the hTTR<sup>A97S</sup> mouse model develops sensory nerve pathology and corresponding physiology mimicking A97S-FAP and provides a platform to develop new therapies for the early stage of A97S-FAP.
|
29423915 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
ESC measures well correlate with the severity of TTR-FAP and could provide early marker of the disease.
|
29883834 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
We reprogrammed FAP patient fibroblasts to induced pluripotent stem (iPS) cells and differentiated these cells into transthyretin-expressing hepatocyte-like cells (HLCs).
|
28051995 |
2017 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ATTR, caused by amyloid-forming variant TTR proteins (ATTRm) that arise from point mutations in the TTR gene, were classically referred to as familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP), reflecting the clinical phenotype.
|
28922609 |
2017 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
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 |