|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
ATTR Asp38Ala and ATTR Ala97Ser are previously unknown variants of TTR leading to the development of FAP.
|
10611950 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
This study confirmed the structural modulation effect of tafamidis on A97S-TTR and implied the potential therapeutic benefit of tafamidis for A97S TTR-FAP.
|
31502419 |
2019 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser).
|
20697105 |
2010 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser.
|
31521469 |
2020 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
This is the first FAP family with a proven missense mutation c.349G>T in Mainland China, as well as the first FAP case with chronic paroxysmal dry cough.
|
30361054 |
2019 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
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 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
BEFREE |
Herein, we demonstrate genetic confirmation of the ATTR Ala97Ser mutation, the most common endemic mutation in Taiwan.
|
29939164 |
2018 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).
|
20937937 |
2011 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy.
|
14986482 |
2003 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Hereditary Transthyretin Amyloidosis in Eight Chinese Families.
|
26521788 |
2015 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).
|
8133316 |
1994 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.
|
20209591 |
2010 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese.
|
10611950 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
These five FAP patients shared an identical missense mutation, Ala97Ser, in the TTR gene.
|
18022643 |
2008 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.
|
23713495 |
2013 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser).
|
20697105 |
2010 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.
|
22412233 |
2012 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
|
11385707 |
2001 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Tabulation of human transthyretin (TTR) variants, 2003.
|
14640030 |
2003 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
Pathology and functional diagnosis of small-fiber painful neuropathy.
|
20714957 |
2010 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
CausalMutation
|
CLINVAR |
The hereditary amyloidoses.
|
15123043 |
2003 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
|
10211412 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.
|
10436378 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
|
2161654 |
1990 |