|
rs10097505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further luciferase assay, data mining, and integrative analyses revealed that the AD-risk genotype AA of rs10097505 was associated with an increased Arc mRNA expression and an elevated Aβ level.
|
28108859 |
2018 |
|
rs10163755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These included signs related to both ATTRm and ATTRwt such as chronic ischaemic heart disease (rs140226130, p = 2.00 × 10<sup>-6</sup>), heart failure (rs73956431, p = 2.74 × 10<sup>-6</sup>), atrial fibrillation (rs10163755, p = 4.63 × 10<sup>-6</sup>), dysphagia (rs2949506, p = 3.95 × 10<sup>-6</sup>), intestine diseases (rs970866, p = 7.14 × 10<sup>-6</sup>) and anxiety (rs554521234, p = 8.85 × 10<sup>-6</sup>).
|
31659433 |
2019 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we investigated a possible association between 2 common ABCB1 polymorphisms, G2677T/A (Ala893Ser/Thr) and C3435T, AD, and cerebrospinal fluid (CSF) levels of Aβ.
|
21478475 |
2011 |
|
rs104894664
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid.
|
22091638 |
2011 |
|
rs104894664
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation.
|
16690499 |
2006 |
|
rs104894664
|
|
|
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 |
|
rs104894665
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).
|
10488818 |
1999 |
|
rs104895219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis.
|
15570662 |
2004 |
|
rs11541796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
|
7923855 |
1994 |
|
rs1217777010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glu34Lys is the only known charge inversion mutation in apoA-I that causes human amyloidosis.
|
30184436 |
2018 |
|
rs121909211
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein, we studied the corneas with mutations at kerato-epithelin residue Arg-124 resulting in amyloid (R124C), non-amyloid (R124L), and a mixed pattern of deposition (R124H).
|
10753964 |
2000 |
|
rs121909612
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutation underlying Glu526Val fibrinogen alpha-chain amyloidosis is incompletely penetrant and has a variable phenotype that can clinically mimic AL amyloidosis.
|
10825402 |
2000 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
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 |
|
rs121909715
|
|
|
0.060 |
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 |
|
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 |
Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2).
|
29637772 |
2018 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene.
|
16258946 |
2006 |
|
rs121912438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
It was also revealed that by reducing the disulfide bond and causing a decrease in the structural stability, the amyloid fibril formation of a familial mutant SOD1 G93A was accelerated even under physiological conditions.
|
26319711 |
2016 |
|
rs121912438
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have further characterized this response in SOD1(G93A) mice and also revealed elevated levels of β-amyloid (Aβ) peptides in the SOD1(G93A) spinal cord, which were predominantly localized within motor neurons and their surrounding glial cells.
|
22678056 |
2012 |
|
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 |
|
rs121913549
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To improve understanding of the processes involved we expressed human wild type (WT) lysozyme and the disease-associated variant F57I in the central nervous system (CNS) of a Drosophila melanogaster model of lysozyme amyloidosis, with and without co-expression of serum amyloid p component (SAP).
|
27428539 |
2016 |
|
rs121918068
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
|
rs121918068
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
|
rs121918074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
|
7923855 |
1994 |