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rs28933979
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|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloidotic polyneuropathy (FAP) type I, the most common dominantly inherited form of amyloidosis, is caused by a Val-to-Met point mutation at position 30 (Val(30)-->Met) in the protein transthyretin.
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10973857 |
2000 |
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rs3743930
|
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|
0.040 |
GeneticVariation |
BEFREE |
We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients.
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11029479 |
2000 |
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rs61752717
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|
0.100 |
GeneticVariation |
BEFREE |
Initial studies have suggested that the presence of the Met694Val mutation carry a significant risk for the development of amyloidosis.
|
11139244 |
2001 |
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rs767006697
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|
0.010 |
GeneticVariation |
BEFREE |
Is the Ala138Gly alteration of MEFV gene important for amyloidosis?
|
11139244 |
2001 |
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rs61752717
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|
|
0.100 |
GeneticVariation |
BEFREE |
The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I).
|
11175300 |
2001 |
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rs28940578
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I).
|
11175300 |
2001 |
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rs1440063914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I).
|
11175300 |
2001 |
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rs121918088
|
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|
0.010 |
GeneticVariation |
BEFREE |
This is the second report of transthyretin (TTR) amyloidosis in a patient who had ATTR Tyr114His diagnosed by mass spectrometry and gene analysis.
|
11409031 |
2001 |
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rs28933979
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|
0.100 |
GeneticVariation |
BEFREE |
Because leptomeningeal amyloidosis occurs in FAP ATTR Val30 Met as the progression of the disease, this information suggests that in addition to peripheral neuropathy, disorders of the central nervous system (CNS) should be given an attention in patients who underwent sequential liver transplantation using an explanted FAP ATTR Val30 Met patient's liver.
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11477356 |
2001 |
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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.
|
11709003 |
2001 |
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rs76992529
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0.100 |
GeneticVariation |
BEFREE |
The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis.
|
11752443 |
2001 |
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rs759304648
|
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|
0.030 |
GeneticVariation |
BEFREE |
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation.
|
12071640 |
2002 |
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rs920832709
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation.
|
12071640 |
2002 |
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rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients suspected of having, or to be at risk of developing, TTR amyloidosis.
|
12553428 |
2002 |
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rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation.
|
12563686 |
2003 |
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rs104894664
|
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|
0.030 |
GeneticVariation |
BEFREE |
Herein we demonstrate that small-molecule tetramer stabilizers represent an attractive therapeutic strategy to inhibit A25T misfolding and CNS amyloidosis.
|
12649341 |
2003 |
|
rs121918100
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
|
12771253 |
2003 |
|
rs121918098
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Selected small molecule tetramer stabilizers can transform D18G from a monomeric aggregation-prone state to a nonamyloidogenic tetramer, which may prove to be a useful therapeutic strategy against TTR-associated CNS amyloidosis.
|
12779320 |
2003 |
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rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In both cases, S1791 was in compound heterozygosity with MEFV mutation M694V, and the characteristic clinical syndrome of FMF including amyloidosis was found.
|
14636645 |
2004 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
rs28940579
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
rs3743930
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant.
|
15071491 |
2004 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group.
|
15122067 |
2004 |
|
rs28940579
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method.
|
15122067 |
2004 |
|
rs28940580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method.
|
15122067 |
2004 |