|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated.
|
30683924 |
2019 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Transthyretin-mediated hereditary amyloidosis (hATTR amyloidosis) is a multisystemic disease with heterogeneous clinical presentation.
|
31399774 |
2019 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the transthyretin (TTR) gene, which can lead to neuropathic hereditary transthyretin amyloidosis (hATTR; previously referred to as transthyretin familial amyloid polyneuropathy), whereas acquired immunoglobulin light chain (AL) amyloidosis is the most common acquired form.
|
31639841 |
2019 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most common type of hereditary amyloidosis is due to mutant transthyretin (ATTRm) deposition and often presents with heart failure or peripheral neuropathy.
|
30093168 |
2018 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA).
|
29246775 |
2018 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients.
|
29924456 |
2018 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inotersen: First Global Approval.
|
30120737 |
2018 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inotersen: First Global Approval.
|
30120737 |
2018 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.
|
28295152 |
2017 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast, hereditary amyloidosis (ATTRm) is an autosomal dominant inherited disease associated with more than 100 point mutations in the transthyretin gene and has a tendency to affect the heart and nervous system.
|
28840452 |
2017 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most common type of familial amyloidosis is mediated by mutation of transthyretin, especially Val30Met.
|
27992035 |
2017 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Liver transplantation halts production of mutated transthyretin (TTR), and thus it is an accepted treatment, with improved survival, in patients with hereditary (familial) amyloidosis with polyneuropathy (FAP).
|
26763274 |
2016 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A total of 31 transthyretin-familial amyloidosis patients (19 mean age, 49 ± 12 years; 26 with the Val30Met mutation) underwent a T<sub>1</sub> mapping cardiac magnetic resonance study and a neurological evaluation with Neuropathy Impairment Score of the Lower Limb score, Norfolk Quality of Life questionnaire, and Karnofsky index.
|
27291669 |
2016 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin familial amyloidosis, secondary to the Glu54Gln gene mutation, was made.
|
25745667 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients.
|
26096568 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
TTR protein destabilised by TTR gene mutation is prone to dissociate from its native tetramer to monomer, and to then misfold and aggregate into amyloid fibrils, resulting in autosomal dominant hereditary amyloidosis, including familial amyloid polyneuropathy, familial amyloid cardiomyopathy and familial leptomeningeal amyloidosis.
|
25604431 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR)-related hereditary amyloidosis, also called familial amyloid polyneuropathy (FAP), is a rare autosomal dominant systemic disorder that presents with progressive axonal sensory, autonomic and/or motor neuropathies.
|
26115788 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis.
|
25211232 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR) is an amyloidogenic tetrameric protein, present in human plasma, associated with several familial amyloidoses.
|
25910794 |
2015 |
|
Amyloidosis, Familial
|
0.600 |
Biomarker
|
disease |
BEFREE |
In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments.
|
25416603 |
2014 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathy (FAP; also known as familiar amyloidosis and hereditary amyloidosis) is an autosomal dominant inherited disease due to mutations of the transthyretin (TTR) gene coding for the corresponding protein, consisting of 127 amino acids.The gene is located on chromosome 18q.
|
23797140 |
2013 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) has a high prevalence in Portugal, and the most common form of hereditary amyloidosis is caused by an amyloidogenic variant of transthyretin (TTR) with a substitution of methionine for valine at position 30 (V30M).
|
24030829 |
2013 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.
|
24053266 |
2013 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Abstract Background: Transthyretin (TTR) amyloidosis - the most common type of hereditary amyloidosis - also has an acquired form and is observed in geographically dispersed populations.
|
23193943 |
2013 |
|
Amyloidosis, Familial
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary amyloidogenic transthyretin (TTR) (ATTR) amyloidosis is an autosomal dominant form of fatal hereditary amyloidosis.
|
22471980 |
2012 |