|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (deltaVal 122) presenting with carpal tunnel syndrome.
|
11140845 |
2000 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are now at least 36 point mutations in the TTR gene associated with FAP and these continue to be described.
|
8737931 |
1996 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Inherited neuropathies: an update.
|
24061768 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Renal amyloidosis has been considered rare and late in the evolution of the transthyretin (TTR) familial amyloid polyneuropathy (FAP) of the Portuguese type (type I).
|
9631837 |
1998 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution.
|
11243784 |
2001 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Transthyretin amyloidosis (ATTR amyloidosis) is a heterogeneous disorder with cardiac, neurologic, and mixed phenotypes.
|
30938420 |
2019 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.
|
21135536 |
2011 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin (TTR) gene and it is generally characterized by a length-dependent polyneuropathy affecting prevalently the small fibers.
|
22592564 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
|
1544214 |
1992 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Serum analysis using immunoprecipitation and MALDI/TOF MS system can provide useful information when investigating FAP patients with diverse types of variant TTR.
|
10611950 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.
|
10842705 |
2000 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied the haplotypes of 27 families (24 French, 2 British and 1 Greek) with FAP met 30 by analysing three polymorphisms in introns of the TTR gene.
|
8568528 |
1995 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary transthyretin amyloidosis (ATTR) is a genetic disease caused by a point mutation in the TTR gene that causes the liver to produce an unstable TTR protein.
|
24601850 |
2014 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated transthyretin, with sudomotor failure as a common manifestation.
|
25973863 |
2015 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, clinically heterogeneous disease due to heritable mutations that lead to misfolding of a precursor protein and multisystem disease.
|
26017327 |
2015 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are now approximately 26 point mutations in the transthyretin gene associated with FAP.
|
8293178 |
1993 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Transthyretin Leu 68 in a form of cardiac amyloidosis.
|
1786038 |
1992 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR).
|
17635579 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With increasing attention and broader recognition on early manifestations of ATTR as well as emerging treatments, appropriate diagnostic studies, including the transthyretin (TTR) genetic test, to confirm the types and variants of ATTR are therefore fundamental to improve the prognosis.
|
29939164 |
2018 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
|
8095302 |
1993 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
|
25644864 |
2015 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.
|
12557757 |
2002 |