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 second domain of gelsolin (G2) hosts mutations responsible for a hereditary form of amyloidosis.
|
31416615 |
2019 |
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 |
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 |
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 |
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 |
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 |
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.
|
29167514 |
2018 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Gender differences in the clinical course of Finnish gelsolin amyloidosis.
|
26805765 |
2016 |
Amyloidosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Natural course of Finnish gelsolin amyloidosis.
|
26339870 |
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 |
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 |
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 |
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 |
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 |
Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis.
|
22512621 |
2012 |
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 |