|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Renal amyloidosis associated with a novel sequence variant of gelsolin.
|
22938848 |
2013 |
|
Meretoja syndrome
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meretoja's syndrome.
|
8088963 |
1994 |
|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.
|
8388189 |
1993 |
|
Meretoja syndrome
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
|
1338910 |
1992 |
|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.
|
2176164 |
1990 |
|
Meretoja syndrome
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.
|
2176481 |
1990 |
|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).
|
6610849 |
1983 |
|
Meretoja syndrome
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Meretoja syndrome
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Liver Cirrhosis, Experimental
|
0.500 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
|
Liver Cirrhosis, Experimental
|
0.500 |
Biomarker
|
disease |
RGD |
Gelsolin gene expression is upregulated in damaged rat and human livers within non-parenchymal cells and not in hepatocytes.
|
14574581 |
2003 |
|
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 |
|
Lattice corneal dystrophy Type II
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To demonstrate this principle, we engineered non-FAF mutations in G3 that disrupt the G2-G3 interface in the calcium-activated structure.
|
31243148 |
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 |
|
Malignant neoplasm of breast
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The upregulated proteins in BC versus control are alpha-amylase, gelsolin isoform a precursor, alpha-2-glycoprotein 1 zinc isoform CRA_b partial, apoptosis-inducing factor 2 and vitronectin.
|
29756217 |
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 |