GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Gelsolin amyloidosis typically involves the nerves and skin, with only rare reported involvement of the kidney. 22938848 2013
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. 10744159 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease LHGDN Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa. 17720986 2008
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Ca2+ binding protects against gelsolin amyloidosis. 15336957 2004
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Causes of death and life span in Finnish gelsolin amyloidosis. 27137880 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families. 29167514 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Cutis laxa in hereditary gelsolin amyloidosis. 15727635 2005
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Familial amyloidotic polyneuropathy type IV--gelsolin amyloidosis. 22512621 2012
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Fifty patients with AGel amyloidosis were enrolled in the study. 30848402 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease GENOMICS_ENGLAND Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. 2176164 1990
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Gender differences in the clinical course of Finnish gelsolin amyloidosis. 26805765 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. 21743312 2011
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome. 19701715 2009
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Immunoblotting with anti-gelsolin and amyloid-specific antibodies and sequence analyses were used to study the fragmentation pattern of gelsolin. 14640038 2003
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. 1848334 1991