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 |
Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy.
|
21743312 |
2011 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Herein, we review what is known about the genetics, biochemistry and pathology of familial amyloidosis of Finnish type (FAF) or gelsolin amyloidosis.
|
22360545 |
2012 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.
|
22512621 |
2012 |
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 |
Xerostomia in hereditary gelsolin amyloidosis.
|
23356404 |
2013 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Natural course of Finnish gelsolin amyloidosis.
|
26339870 |
2015 |
Amyloidosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Gender differences in the clinical course of Finnish gelsolin amyloidosis.
|
26805765 |
2016 |
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 |
Causes of death and life span in Finnish gelsolin amyloidosis.
|
27137880 |
2016 |
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 |
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 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 |
GeneticVariation
|
disease |
BEFREE |
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.
|
29167514 |
2018 |
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 |
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 |
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 |
Fifty patients with AGel amyloidosis were enrolled in the study.
|
30848402 |
2019 |
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 |
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 second domain of gelsolin (G2) hosts mutations responsible for a hereditary form of amyloidosis.
|
31416615 |
2019 |