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 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
Familial Amyloid Polyneuropathy, Type V
0.140 Biomarker disease BEFREE Close collaboration between the ophthalmologist and the internist will facilitate a more precise diagnosis of ocular involvement in amyloidosis and allow the multidisciplinary management of these patients.<b>Abbreviations:</b> CD: corneal dystrophy; CLA: corneal lattice amyloidosis; CNS: central nervous system; CT: computed tomography; FAP: familial amyloidotic polyneuropathy; GDLCD: gelatinous drop-like corneal dystrophy; GLN: gelsolin; LCD: lattice corneal dystrophy; MRI: magnetic resonance imaging; OLT: orthotopic liver transplantation; TEM: transmission electron microscopy; TGFBI: transforming growth factor β induced; TTR: transthyretin. 31829761 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The expression of the actin-associated protein cytosolic gelsolin (GSN) regulates the gynecological cancer cell fate resulting in dysregulation in chemosensitivity. 31700155 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE The expression of the actin-associated protein cytosolic gelsolin (GSN) regulates the gynecological cancer cell fate resulting in dysregulation in chemosensitivity. 31700155 2020
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3
0.020 Biomarker disease BEFREE Close collaboration between the ophthalmologist and the internist will facilitate a more precise diagnosis of ocular involvement in amyloidosis and allow the multidisciplinary management of these patients.<b>Abbreviations:</b> CD: corneal dystrophy; CLA: corneal lattice amyloidosis; CNS: central nervous system; CT: computed tomography; FAP: familial amyloidotic polyneuropathy; GDLCD: gelatinous drop-like corneal dystrophy; GLN: gelsolin; LCD: lattice corneal dystrophy; MRI: magnetic resonance imaging; OLT: orthotopic liver transplantation; TEM: transmission electron microscopy; TGFBI: transforming growth factor β induced; TTR: transthyretin. 31829761 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.020 AlteredExpression disease BEFREE In this study, we report that elevated expression of plasma gelsolin (pGSN), a secreted isoform of GSN and expressed from the same GSN gene, correlates with poorer overall survival and relapse-free survival in patients with OVCA. 31700155 2020
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.020 AlteredExpression disease BEFREE In this study, we report that elevated expression of plasma gelsolin (pGSN), a secreted isoform of GSN and expressed from the same GSN gene, correlates with poorer overall survival and relapse-free survival in patients with OVCA. 31700155 2020
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.020 AlteredExpression disease BEFREE In this study, we report that elevated expression of plasma gelsolin (pGSN), a secreted isoform of GSN and expressed from the same GSN gene, correlates with poorer overall survival and relapse-free survival in patients with OVCA. 31700155 2020
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis
0.010 Biomarker disease BEFREE Gelsolin: a new biomarker of disease activity in SLE patients associated with HDL-c. 31504936 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 Biomarker disease BEFREE Gelsolin: a new biomarker of disease activity in SLE patients associated with HDL-c. 31504936 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE The second domain of gelsolin (G2) hosts mutations responsible for a hereditary form of amyloidosis. 31416615 2019
CUI: C0002726
Disease: Amyloidosis
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
CUI: C0002726
Disease: Amyloidosis
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
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 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: C1628319
Disease: Lattice corneal dystrophy Type II
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
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
0.300 Biomarker phenotype CTD_human Oral administration of alcalase potato protein hydrolysate-APPH attenuates high fat diet-induced cardiac complications via TGF-β/GSN axis in aging rats. 30240538 2019
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
0.300 Biomarker phenotype CTD_human Gelsolin (GSN) induces cardiac hypertrophy and TGF-β, a key cytokine, which induces fibrosis. 30240538 2019
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.130 Biomarker disease BEFREE The accumulation of amyloid fibrils with severe elastolysis characterises both dermal and vascular derangement in AGel amyloidosis. 31814469 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.120 Biomarker disease BEFREE A decrease of GSN concentration in the blood of AML subjects with developing sepsis suggests that GSN level in blood reflects not only chronic inflammation stage associated with leukemia, but that GSN depletion also manifests the inflammation associated with sepsis development. 30796880 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.110 Biomarker disease BEFREE We show that gelsolin relocates from the dendritic shaft to dendritic spines upon cLTD induction while it did not show any relocalization upon cLTP induction. 31280237 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE In this review, we summarise the structure of GSN as well as its regulating and functional roles, focusing on distinct diseases such as Alzheimer's disease, rheumatoid arthritis and cancer. 30698126 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Western blot analysis was performed to verify the differential expression of proteins in the iTRAQ study, and those found to be altered in a tumor protective fashion by an n-3FA rich diet in our previous preclinical study; gelsolin, VDBP, and FN were altered by n-3FA in a manner consistent with reduction in inflammation in obese women. 31369706 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Functional studies demonstrated that secreted GSN could restrain cell invasion and migration in vitro. 30854138 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE In this review, we summarise the structure of GSN as well as its regulating and functional roles, focusing on distinct diseases such as Alzheimer's disease, rheumatoid arthritis and cancer. 30698126 2019