|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.
|
22745357 |
2013 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis.
|
24101373 |
2013 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Inability of mutant transthyretin V30M to cross the blood-eye barrier.
|
23080516 |
2012 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Genotype--phenotype correlation in FAP.
|
22620962 |
2012 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles.
|
23185504 |
2012 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide.
|
21992998 |
2012 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
The V30M to wild type TTR ratio in plasma is the same for all ATTR patients studied, showing no variation with disease clinical progression.
|
22080762 |
2011 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
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 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide.
|
22094129 |
2011 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms.
|
20132088 |
2010 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
We determined that SELDI-TOF MS was suitable for quantitative detection of ATTR V30M and demonstrated that the proportion of ATTR V30M to WT TTR was 46.6% in amyloid-laden cardiac tissue from an FAP patient who died 10 years after liver transplantation.
|
19372189 |
2009 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.
|
19808383 |
2009 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
|
19709674 |
2009 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.
|
18925456 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy.
|
18925459 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Using a series of aspirated abdominal fat tissues from 6 FAP patients with transthyretin (TTR) Val30Met variant, the severity of amyloid deposits was examined and the composition ratio of wild type-to-variant TTR in fat amyloid was assayed by liquid chromatography-ion trap mass spectrometry (LC-MS/MS).
|
18383093 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.
|
18410945 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation.
|
18506713 |
2008 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genetic microheterogeneity of human transthyretin detected by IEF.
|
17503405 |
2007 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
|
17453626 |
2007 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).
|
17698792 |
2007 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.
|
16194874 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
|
15804246 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The biological and chemical basis for tissue-selective amyloid disease.
|
15820680 |
2005 |
|
rs28933979
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial amyloid polyneuropathy (FAP), Portuguese type, is a late onset, high penetrance, autosomal dominant Mendelian disorder caused by a V30M substitution in the transthyretin (TTR) protein.
|
15949223 |
2005 |