|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a rare case of a FAP TTR-50 variant undergoing domino liver transplantation.
|
10664115 |
2000 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inotersen: First Global Approval.
|
30120737 |
2018 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our research suggests that impairment of autophagy might be involved in the pathogenesis of TTR FAP with Y114C mutation, and curcumin might be a potential therapeutic approach for TTR FAP.
|
25382970 |
2014 |
|
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 |
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 |
Cardiac amyloidosis occurs in the classical form of FAP with ATTR Val30Met, especially in older patients, and is also a common clinical manifestation in FAP patients with non-Val30Met ATTRs.
|
14986482 |
2003 |
|
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 |
To elucidate the mechanism of this phenomenon, a large amount of purified normal TTR from normal human plasma was intravenously injected in mice and FAP patients.
|
9434098 |
1997 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent reports of the transmission of systemic transthyretin (TTR) amyloidosis after domino liver transplantation (DLT) using grafts from patients with familial amyloid polyneuropathy (FAP) have raised concerns about the procedure.
|
21117248 |
2010 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although TTR mutations were mostly associated with familial amyloid polyneuropathy (FAP), these molecular variants were also found in patients with recurrent stroke, subarachnoidal bleeding and radiological findings of cerebral, cerebellar, cortical-subcortical infarctions and hemosiderosis.We describe a 46 y.o. man with recurrent cerebral haemorrhages carrying Asn90His variant of TTR gene.
|
19428025 |
2009 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this paper we demonstrate a stabilizing effect of sulfite on TTR tetramers from a familial amyloidotic polyneuropathy (FAP) patient homozygous for the most-common amyloidogenic TTR-V30 M mutation.
|
14534839 |
2004 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autopsy findings in a 68-year-old FAP patient with a homozygous mutation of the Val30Met TTR gene were described.
|
15185500 |
2004 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP.
|
22094129 |
2011 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The marked increase of refractoriness at short-width stimulus suggests a defect in sodium current which may represent an early, pre-symptomatic pathophysiological change in TTR-FAP.
|
26529114 |
2015 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
While random genomic insertion of mutant and wild-type human transthyretin genes has, in some instances, produced tissue deposits consisting of the human protein, in no case has a model faithfully reproduced the neuropathic pathology seen in FAP patients.
|
14640034 |
2003 |
|
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 |
Biomarker
|
disease |
BEFREE |
In contrast, TTR(Met30) was relatively enriched in cerebrospinal fluid samples from two FAP patients.
|
3908483 |
1985 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease associated with the mutations in the transthyretin gene.
|
26986100 |
2016 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |
|
Adenomatous Polyposis Coli
|
0.400 |
Biomarker
|
disease |
BEFREE |
In most types of FAP syndromes the accumulating protein is a transthyretin variant.
|
1652889 |
1991 |
|
Adenomatous Polyposis Coli
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the therapeutic efficacy of liver transplantation in patients with ATTR Val30Met familial amyloid polyneuropathy (FAP), were repeatedly examined the neurophysiological function of peripheral nerves in nine patients.
|
12762137 |
2003 |
|
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 |
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 |
Familial amyloid polyneuropathy (FAP) type I is a severe autosomal dominant inherited neuropathy associated with mutations in the transthyretin (TTR) gene.
|
19364362 |
2009 |