rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation.
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26763274 |
2016 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) is an inherited amyloidosis mainly associated with transthyretin Val30Met variant.
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15804246 |
2005 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results.
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11709003 |
2001 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
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30091268 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.
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15523922 |
2004 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Here, we present a 2.97 Å cryo electron microscopy structure of a fibril purified from the tissue of a patient with hereditary Val30Met ATTR amyloidosis.
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31676763 |
2019 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
All three variants showed aberrant banding patterns that were similar to those of other well-characterized TTR variants, including the common Val30Met variant that causes ATTR amyloidosis.
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31074293 |
2019 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
This phase II, open-label, single-treatment arm study evaluated the pharmacodynamics, efficacy, and safety of tafamidis in patients with non-Val30Met transthyretin (TTR) amyloidosis.
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24101373 |
2013 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Of patients with ATTRV30M amyloidosis in endemic and non-endemic areas, and non-V</span>3</span>0M ATTR amyloidosis, 63.6, 66.0, and 27.5% initially presented with polyneuropathy, respectively.
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29177547 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown.
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29779881 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation.
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30572722 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease.
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27992035 |
2017 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas.
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28085522 |
2017 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR).
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28539873 |
2017 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
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8599155 |
1996 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Nerve biopsy confirmed amyloid deposits in nerves, and molecular genetic analysis showed a mutation of the transthyretin (V30M) gene for 3 patients; the 2 other patients had acquired amyloidosis.
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22190302 |
2012 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We describe a case of vitreous amyloidosis without systemic symptoms in familial amyloidotic polyneuropathy (FAP) associated with Val30Met transthyretin mutation.
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15678760 |
2004 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy?
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26104852 |
2015 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry.
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31163298 |
2019 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Families with a variant transthyretin (TTR V30M)-associated familial amyloidotic polyneuropathy (FAP) exhibit genetic anticipation, with TTR V30M-amyloid depositing at an earlier age in successive generations.
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15478467 |
2004 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
We analyzed the relationship between the occurrence of acquired amyloidosis and clinical features in 22 consecutive domino liver donors with hereditary TTR amyloidosis (10 males and 12 females; mean age at DLT: 37.2 years; TTR mutations: V30M [n = 19], Y114C [n = 1], L55P [n = 1], and S50I [n = 1]) and 22 liver recipients (16 males and 6 females; mean age at DLT, 46.2 years).
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26600212 |
2016 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis.
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18729067 |
2008 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Why does ATTR Val30Met amyloidosis alone demonstrate foci of occurrence?
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30486687 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease.
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29357699 |
2018 |
rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The peptide elution pattern seen for the individuals with confirmed amyloidosis is consistent for the presence of a prealbumin variant with a methionine for valine at position 30 of the molecule.
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3820203 |
1986 |