|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We designate this variant of gelsolin-associated amyloidosis 'Agel Asn-187'.
|
2176481 |
1990 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
|
2176164 |
1990 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides.
|
1848334 |
1991 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It is concluded that homozygous Finnish amyloidosis leads to a severe nephropathy due to the deposition of fragments of mutant gelsolin.
|
8395367 |
1993 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Ultrastructurally, amyloid-like fibrils were formed from the mutant Asn-187 and Tyr-187 gelsolin peptides corresponding to the naturally occurring missense mutations found in familial gelsolin amyloidosis syndromes, as well as from a gelsolin peptide having a Val-187 substitution.
|
8176895 |
1994 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
In homozygous FAF (Asn-187), the 65-kd fragment, which contains the amyloid-forming region (Ala173-Met243), and the 55-kd fragment, which is devoid of that region, are the major gelsolin species in plasma; whereas normal gelsolin, as well as a 70-kd fragment identified as the C-terminal portion of gelsolin starting at Glu122, and a 45-kd fragment starting at Ser384, are minor components.
|
9354764 |
1997 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Immunostains in 10 patients revealed immunoglobulin amyloidosis in 7 and gelsolin amyloidosis in 1.
|
9629841 |
1998 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic manifestations distinct from other amyloidoses.
|
9547007 |
1998 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 654G-T mutation in the gelsolin gene gives rise to an amyloid disease clinically and pathogenetically similar to that caused by the 654G-A mutation.
|
10767822 |
2000 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Histological, immunohistochemical, and electron microscopic studies showed consistent deposition of gelsolin amyloid (AGel), particularly in the vascular walls and perineurial sheaths.
|
12071640 |
2002 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Immunoblotting with anti-gelsolin and amyloid-specific antibodies and sequence analyses were used to study the fragmentation pattern of gelsolin.
|
14640038 |
2003 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Ca2+ binding protects against gelsolin amyloidosis.
|
15336957 |
2004 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cutis laxa in hereditary gelsolin amyloidosis.
|
15727635 |
2005 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
By extension, the biochemical results herein suggest that tissue-selective deposition characteristic of the gelsolin amyloidoses is likely influenced by the extracellular localization of distinct glycosaminoglycans.
|
16475811 |
2006 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report.
|
17453628 |
2007 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa.
|
17720986 |
2008 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.
|
19701715 |
2009 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
We conclude that gelsolin might prevent brain amyloidosis and Abeta-induced apoptotic mitochondrial changes.
|
19607917 |
2009 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
We report the first case of renal transplantation in a patient with hereditary gelsolin amyloidosis complicated by end-stage renal disease.
|
19440061 |
2009 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One patient with transthyretin amyloidosis and 1 patient with gelsolin amyloidosis with no specific mutation identified were diagnosed based on genetic confirmation in their first-degree relative.
|
20937937 |
2011 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.
|
21743312 |
2011 |