|
Adenomatous Polyposis Coli
|
|
0.050 |
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 |
|
Adenomatous Polyposis Coli
|
|
0.050 |
GeneticVariation
|
BEFREE |
ATTR Asp38Ala and ATTR Ala97Ser are previously unknown variants of TTR leading to the development of FAP.
|
10611950 |
1999 |
|
Adenomatous Polyposis Coli
|
|
0.050 |
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 |
|
Adenomatous Polyposis Coli
|
|
0.050 |
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 |
|
Adenomatous Polyposis Coli
|
|
0.050 |
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 |
|
Amyloid Neuropathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.
|
20697105 |
2010 |
|
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene.
|
30361054 |
2019 |
|
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.
|
28762097 |
2018 |
|
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Fabry disease (1%) and familial amyloid polyneuropathy (3%) with Ala97Ser transthyretin (TTR) mutations were also detected.
|
28957343 |
2017 |
|
Amyloid Neuropathies, Familial
|
|
0.040 |
GeneticVariation
|
BEFREE |
Ala97Ser (A97S) is the major transthyretin (TTR) mutation in Taiwanese patients of familial amyloid polyneuropathy (FAP), characterized by a late-onset but rapidly deteriorated neuropathy.
|
31502419 |
2019 |
|
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
This study broadens the recognition of the initial signs and symptoms, including cardiographic findings and longitudinal manifestations in Taiwanese individuals with ATTR Ala97Ser mutation.
|
28882124 |
2017 |
|
Amyloidosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis.
|
29939164 |
2018 |
|
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
BEFREE |
ATTR Asp38Ala and ATTR Ala97Ser are previously unknown variants of TTR leading to the development of FAP.
|
10611950 |
1999 |
|
Autonomic neuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
A c.349G>T transversion (p.Ala117Ser) in TTR gene exon 4 was identified in the proband with typical autonomic neuropathy and peripheral motor neuropathy, as well as in his asymptomatic son.
|
28762097 |
2018 |
|
Cardiomyopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings reveal that ATTR p.A97S is a cardiomyopathy as well as a polyneuropathic syndrome.
|
31521469 |
2020 |
|
Dry cough
|
|
0.010 |
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 |
|
Erectile dysfunction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Other notable findings at the time of diagnosis included a high rate of impotence among the Ala97Ser cases versus all others (67% vs. 21%) and a high rate of non-motor visual symptoms (i.e., visual opacities and glaucoma) in the Ser77Tyr cases versus all others (93% vs. 16%).
|
30736835 |
2019 |
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Fabry disease (1%) and familial amyloid polyneuropathy (3%) with Ala97Ser transthyretin (TTR) mutations were also detected.
|
28957343 |
2017 |
|
Glaucoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Other notable findings at the time of diagnosis included a high rate of impotence among the Ala97Ser cases versus all others (67% vs. 21%) and a high rate of non-motor visual symptoms (i.e., visual opacities and glaucoma) in the Ser77Tyr cases versus all others (93% vs. 16%).
|
30736835 |
2019 |