Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Xerostomia in hereditary gelsolin amyloidosis.
|
23356404 |
2013 |
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 |
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 |
We designate this variant of gelsolin-associated amyloidosis 'Agel Asn-187'.
|
2176481 |
1990 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
We conclude that a nanobody-based gene therapy using adeno-associated viruses shows great potential as a novel strategy in gelsolin amyloidosis and potentially other amyloid diseases.
|
28334940 |
2017 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report.
|
17453628 |
2007 |
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 |
Natural course of Finnish gelsolin amyloidosis.
|
26339870 |
2015 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
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 |
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 |
Insertion of the therapeutic nanobody gene into the gelsolin amyloidosis mouse genome resulted in improved muscle contractility.
|
25601851 |
2015 |
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 |
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 |