|
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 |
|
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
|
UNIPROT |
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
|
12403615 |
2002 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
|
7850982 |
1995 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
|
1351039 |
1992 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese.
|
10611950 |
1999 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
|
3818577 |
1986 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
|
10439117 |
1999 |
|
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
|
UNIPROT |
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
|
16185074 |
2005 |
|
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
|
UNIPROT |
"A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy."
|
8019560 |
1994 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
|
2891727 |
1988 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
|
12050338 |
2002 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A new transthyretin mutation associated with amyloid cardiomyopathy.
|
1570831 |
1992 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.870 |
GeneticVariation
|
UNIPROT |
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
|
15214015 |
2004 |