|
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 |
During 1986 through 2004, 35 gelsolin amyloidosis patients underwent surgery, totaling 67 operations and 95 procedures; 89 percent consulted a plastic surgeon for brow ptosis or blepharochalasis, 15 percent for problems in oral function, and 21 percent for ocular dryness or corneal ulcers.
|
21617468 |
2011 |
|
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 |
Biomarker
|
disease |
BEFREE |
Fifty patients with AGel amyloidosis were enrolled in the study.
|
30848402 |
2019 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Causes of death and life span in Finnish gelsolin amyloidosis.
|
27137880 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
Gelsolin amyloidosis typically involves the nerves and skin, with only rare reported involvement of the kidney.
|
22938848 |
2013 |
|
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 |
Insertion of the therapeutic nanobody gene into the gelsolin amyloidosis mouse genome resulted in improved muscle contractility.
|
25601851 |
2015 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Xerostomia in hereditary gelsolin amyloidosis.
|
23356404 |
2013 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
<b>Methods:</b> Paraffin-embedded tissue sections from 25 autopsied individuals (age at death 44.4-88.6 years) with AGel amyloidosis were stained with HE, Congo red and Herovici stains and immunohistochemistry against the low molecular weight gelsolin fraction was performed.
|
31122115 |
2019 |
|
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 |
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 |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
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 |
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 |
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 |
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides.
|
1848334 |
1991 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here we report the clinical, kidney biopsy, and mass spectrometry findings in 12 cases of renal gelsolin amyloidosis.
|
28139293 |
2017 |
|
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 |
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 |
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 |
Gender differences in the clinical course of Finnish gelsolin amyloidosis.
|
26805765 |
2016 |
|
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
1-Palmitoyl-2-(9'-oxononanoyl)-sn-glycero-3-phosphocholine, an oxidized phospholipid, accelerates Finnish type familial gelsolin amyloidosis in vitro.
|
21545139 |
2011 |
|
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.
|
29167514 |
2018 |