Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The plasma protein transthyretin (TTR) can aggregate into insoluble amyloid fibrils causing systemic amyloidosis (ATTR amyloidosis) in patients carrying a variant TTR protein.
|
31074293 |
2019 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Light-chain amyloidosis and transthyretin-related amyloidosis (wild-type and mutated) are three main types of systemic amyloidosis associated with a clinically relevant cardiac involvement.
|
30742933 |
2019 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
With the advent of new drug therapies for AL amyloidosis and hATTR amyloidosis, including proteasome inhibitors, TTR silencers, and TTR protein stabilizers, the neurologist is uniquely positioned to diagnose neurologic manifestations of systemic amyloidosis, leading to earlier disease identification and treatment.
|
31639841 |
2019 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total f 322 subjects (311 systemic amyloidosis and 11 transthyretin gene mutation carriers) underwent comprehensive CMR and transthoracic echocardiography.
|
29680336 |
2019 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cardiac amyloidosis is a rare disease characterized by amyloid heart deposits and is usually a part of systemic amyloidosis, in relation to systemic light chain (AL) and transthyretin (ATTR wild-type or genetic) amyloidosis.
|
31140154 |
2019 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR)-familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutations in the TTR gene.
|
31760657 |
2019 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
ATTR amyloidosis is one of the worldwide most abundant forms of systemic amyloidosis.
|
31676763 |
2019 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation.
|
28635949 |
2017 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary transthyretin (TTR)-related amyloidosis (ATTR) seems to be a rare autosomal-dominant inherited form of systemic amyloidosis.
|
25644864 |
2015 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Ser52Pro variant of transthyretin (TTR) produces aggressive, highly penetrant, autosomal-dominant systemic amyloidosis in persons heterozygous for the causative mutation.
|
24474780 |
2014 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR).
|
23638719 |
2013 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, hereditary transthyretin-related amyloidosis (ATTR) is the most frequent form of familial systemic amyloidosis, a group of severe diseases with variable neurological and organ involvement.
|
20479782 |
2010 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leptomeningeal amyloidosis is a rare central nervous system manifestation of systemic amyloidosis from transthyretin (TTR) mutation.
|
18579156 |
2008 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement.
|
17968688 |
2007 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Transthyretin (TTR) amyloidosis is a form of systemic amyloidosis caused by an amyloidogenetic TTR variant.
|
17122946 |
2006 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Suppression of hepatic synthesis of transthyretin may offer a medical treatment for transthyretin systemic amyloidosis.
|
16421881 |
2006 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two different types of amyloid deposits--apolipoprotein A-IV and transthyretin--in a patient with systemic amyloidosis.
|
15146166 |
2004 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fibril formation by WT transthyretin (TTR) or TTR variants has been linked to the etiology of systemic amyloidosis and familial amyloid polyneuropathy, respectively.
|
12900507 |
2003 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary transthyretin (TTR) amyloidosis is a rare often fatal form of systemic amyloidosis, that until recently was considered intractable, with the patients dying from the disease 5-15 years after onset.
|
12930231 |
2003 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is perplexing that D18G does not lead to severe early onset systemic amyloidosis, given that it is the most destabilized TTR variant characterized to date, more so than variants exhibiting onset in the second decade.
|
12779320 |
2003 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in transthyretin (TTR) are the most common cause of autosomal dominant systemic amyloidosis.
|
12553428 |
2002 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.
|
12557757 |
2002 |
Systemic amyloidosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, TTR can undergo a conformational change and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis.
|
14987380 |
2002 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloidotic polyneuropathy (FAP), a hereditary form of systemic amyloidosis with clinically significant neuropathy and cardiomyopathy, is caused by a genetic defect of the transthyretin gene, which is mostly synthesized in the liver.
|
10665911 |
2000 |
Systemic amyloidosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial Amyloid Polyneuropathy (FAP) is an hereditary form of systemic amyloidosis related to a mutant transthyretin (TTR).
|
9988146 |
1999 |