|
rs28933979
|
|
|
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.
|
3820203 |
1986 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States.
|
2897192 |
1988 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin.
|
1652889 |
1991 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin.
|
1311922 |
1992 |
|
rs28939068
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy.
|
8108423 |
1994 |
|
rs11541796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
|
7923855 |
1994 |
|
rs121918074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
|
7923855 |
1994 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
|
8599155 |
1996 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.
|
8857732 |
1996 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Specifically, the data from our American series are insufficient to evaluate the hypothesis that the M694V/M694V genotype confers a more severe phenotype, or increases the risk of amyloidosis; but both our data and the recent literature (160) indicate that amyloidosis can occur in FMF patients with only 1 copy, or no copies, of the M694V mutation.
|
9715731 |
1998 |
|
rs28939068
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The state of denaturation of L68Q cystatin C in vivo is thus a critical factor for the concentration of active cysteine proteinase inhibitor in cerebrospinal fluid and likely also for the development of amyloidosis, in HCCAA patients.
|
9860845 |
1998 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Only patients with the M694V mutation had a family history of amyloidosis.
|
10224214 |
1999 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02).
|
10234504 |
1999 |
|
rs121918077
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We performed clinical, radiologic, and pathologic examinations of three family members with TTR-related (Ala36Pro) amyloidosis.
|
10534258 |
1999 |
|
rs121918094
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
|
10071047 |
1999 |
|
rs104894665
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).
|
10488818 |
1999 |
|
rs121913547
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis.
|
10534505 |
1999 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The first liver transplantation for hereditary TTR amyloidosis was performed in Sweden in 1990 on a patient with ATTR Val30Met amyloidosis, and the result was encouraging.
|
10827225 |
2000 |
|
rs28933979
|
|
|
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.
|
10973857 |
2000 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis.
|
10905662 |
2000 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the light of the high frequency of amyloidosis in homozygotes for the mutation M694V, colchicine treatment should be given to this group irrespective of the severity of the inflammatory attacks to prevent the development of amyloidosis.
|
10799634 |
2000 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The presence of the Met694Val mutation was not found to be associated with a severe form of the disease or the development of amyloidosis.
|
10662876 |
2000 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
rs3743930
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In our series, there were no cases of amyloidosis in 16 patients carrying the common mutation E148Q.
|
10799634 |
2000 |
|
rs3743930
|
|
|
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.
|
11029479 |
2000 |