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 |
GeneticVariation
|
disease |
BEFREE |
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report.
|
17453628 |
2007 |
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 |
A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.
|
30417985 |
2018 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.
|
19701715 |
2009 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro).
|
30093168 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
Natural course of Finnish gelsolin amyloidosis.
|
26339870 |
2015 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The second domain of gelsolin (G2) hosts mutations responsible for a hereditary form of amyloidosis.
|
31416615 |
2019 |
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 |
Ca2+ binding protects against gelsolin amyloidosis.
|
15336957 |
2004 |
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 |
Biomarker
|
disease |
BEFREE |
The gelsolin gene defect causes expression of variant gelsolin, followed by systemic deposition of gelsolin amyloid (AGel) in HGA patients and even other consequences on the metabolism and function of gelsolin.
|
23931809 |
2013 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cutis laxa in hereditary gelsolin amyloidosis.
|
15727635 |
2005 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis.
|
27879149 |
2016 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.
|
21743312 |
2011 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
We analysed elastic fibre pathology in dermal and vascular tissue and plasma samples from 35 patients with AGel amyloidosis and 40 control subjects by transmission electron microscopy, immunohistochemistry and ELISA methods.
|
31814469 |
2019 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the disease familial amyloidosis, Finnish type (FAF), also known as AGel amyloidosis (AGel), the mechanism by which point mutations in the calcium-regulated actin-severing protein gelsolin lead to furin cleavage is not understood in the intact protein.
|
31243148 |
2019 |
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 |
To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).<b>Results</b>: Overall, ocular morbidity was detected in 41 of the 178 patients with amyloidosis (23%).
|
31829761 |
2020 |
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 |
GeneticVariation
|
disease |
LHGDN |
Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa.
|
17720986 |
2008 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Follow-up of these cases might give us more insight into pathogenicity and potential treatment strategy of this atypical presentation of gelsolin amyloidosis.
|
24601799 |
2014 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.
|
26915616 |
2016 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%).
|
25828388 |
2015 |