rs28933979
|
|
Plaque, Amyloid
|
|
0.020 |
GeneticVariation
|
BEFREE |
Vitreous amyloid deposits are one of the most common ocular manifestations of familial amyloidosis ATTR V30M (FAP-I), which can be the only manifestation of the disease and can appear even after liver transplantation.
|
21358362 |
2011 |
rs28933979
|
|
Plaque, Amyloid
|
|
0.020 |
GeneticVariation
|
BEFREE |
Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.
|
19709674 |
2009 |
rs28939068
|
|
Plaque, Amyloid
|
|
0.020 |
GeneticVariation
|
BEFREE |
We have generated lines of transgenic mice expressing either wild-type human cystatin C or the Leu68Gln variant that forms amyloid deposits in the cerebral vessels of Icelandic patients with hereditary cerebral hemorrhage, under control sequences of the human cystatin C gene.
|
14742906 |
2004 |
rs28939068
|
|
Plaque, Amyloid
|
|
0.020 |
GeneticVariation
|
BEFREE |
Besides carrying the L68Q substitution, cystatin C in amyloid deposits isolated from patients is N-terminally truncated by 10 amino acids.
|
11934268 |
2002 |
rs1052006472
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers.
|
12770961 |
2003 |
rs121909211
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
|
21447988 |
2011 |
rs121913547
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Formation of amyloid deposits from the Ile56Thr or Asp67His variants of human lysozyme is a hallmark of autosomal hereditary systemic amyloidosis.
|
15155566 |
2004 |
rs121918097
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E).
|
11445644 |
2001 |
rs1434458385
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.
|
21447988 |
2011 |
rs63750579
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months.
|
20641005 |
2010 |
rs74315409
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Susceptibility varied considerably depending on prions inoculated: highly susceptible to MM1 and MV1 types of sporadic Creutzfeldt-Jakob disease (CJD), developing disease within approximately 150 days, familial CJD with M232R mutation, and dura graft-associated CJD (dCJD) without amyloid plaque; less susceptible to MM2-type sporadic CJD and variant CJD, with some mice lacking any sign of transmission; and totally resistant to VV2 type sporadic CJD and dCJD with amyloid plaque.
|
14633630 |
2003 |
rs753737986
|
|
Plaque, Amyloid
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have generated lines of transgenic mice expressing either wild-type human cystatin C or the Leu68Gln variant that forms amyloid deposits in the cerebral vessels of Icelandic patients with hereditary cerebral hemorrhage, under control sequences of the human cystatin C gene.
|
14742906 |
2004 |