Genes (40)
Species:
human : 40 | |
| Human | LOC643387 | 643387 | TAR DNA binding protein pseudogene | TDP-43 is the newest member of the growing list of neurodegenerative proteinopathies, but unique in that it lacks features of brain amyloidosis | | Human | NLRP3 | 114548 | NLR family, pyrin domain containing 3 | Title:Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis|Association:Y|Conclusion:Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects. | | Human | HAMP | 57817 | hepcidin antimicrobial peptide | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | GAL | 51083 | galanin/GMAP prepropeptide | mechanistic relationship between amyloidosis and GAL over expression in Alzheimer disease | | Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | HspB8 might play important role in regulating Abeta aggregation and, therefore, development of classic senile plaques in Alzheimer's disease and cerebral amyloid angiopathy in hereditary cerebral hemorrhage with amyloidosis of Dutch type | | Human | TTR | 7276 | transthyretin | Elevated IOP (intraocular pressure) may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene the beta-slip structure and amyloidosis homocysteine and human plasma transthyretin bind and have roles in the pathological consequences of amyloid disease In amyloidosis, deposits in both vitreous and cardiac tissues were enriched in variant transthyretin, vitreous fibrils contained more variant protein than cardiac fibrils transthyretin amyloidosis inhibitors functioned by increasing the kinetic barrier associated with misfolding, preventing amyloidogenesis by stabilizing the native state; the trans-suppressor mutation also functioned through kinetic stabilization analysis of role of dimerization in transthyretin amyloidosis Title:Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.|Association:Y|Conclusion:Not Found | | Human | TNFRSF1A | 7132 | tumor necrosis factor receptor superfamily, member 1A | Title:Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.|Association:Not Found|Conclusion:In this series we observed that FMF is the main cause of AA amyloidosis in Sephardic Jews and Turks. MEFV and TNFRSF1A mutations were found in only 6 of 14 Arab patients from the Maghreb. We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s). The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever. Title:Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis|Association:Y|Conclusion:Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects. | | Human | TNF | 7124 | tumor necrosis factor | Title:Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients|Association:Not Found|Conclusion:Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis. Data show higher SAA1 homozygosity in familial Mediterranean fever (FMF)-amyloidosis patients than in FMF patients, but no significant difference between controls and FMF patients with and without amyloidosis for the TNF-alpha-308 G-A allele | | Human | SOD1 | 6647 | superoxide dismutase 1, soluble | structure of this putative ALS precursor is strikingly similar to those implicated in amyloid disease | | Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | mutant proteins form annular protofibrils(similar to pore-forming bacterial toxins), suggesting that inappropriate membrane permeabilization might be the cause of cell dysfunction and even cell death in amyloid diseases, as Alzheimers and Parkinsons Hsp104 likely protects dopaminergic neurons by antagonizing toxic alpha-synuclein assemblies and might have therapeutic potential for PD and other neurodegenerative amyloidoses Identification of sequence determinants regulating fibrillation of amyloidogenic proteins may provide valuable information for designing peptide analog drugs to prevent protein amyloidosis | | Human | SEMG1 | 6406 | semenogelin I | The study provides evidence that senile seminal vesicle amyloid is derived from SgI; this form of amyloidosis was provisionally designated as ASgI | | Human | SAA2 | 6289 | serum amyloid A2 | SAA1a/a genotype is one genetic factor that confers a significant risk for amyloidosis in the Turkish FMF population but neither SAA1 nor SAA2 genotypes had a significant effect on SAA level | | Human | SAA1 | 6288 | serum amyloid A1 | Title:Significance of SAA1.3 allele genotype in Japanese patients with amyloidosis secondary to rheumatoid arthritis.|Association:Not Found|Conclusion:Our data support the fact that homozygosity for the SAA1.3 allele is a univariate predictor of survival in addition to a risk factor for the association of AA amyloidosis adversely influencing the outcome in Japanese RA patients. Renal involvement is a pivotal clinical manifestation in the development of AA amyloidosis, as is likely to be cardiac involvement in AA amyloidosis secondary to RA. Increased amyloid AA is associated with amyloidosis and familial Mediterranean fever the SAA1 alpha/alpha genotype is a risk factor for amyloidosis in BD Title:Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients|Association:Y|Conclusion:Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis. Title:Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.|Association:Not Found|Conclusion:Patients with HIDS have high SAA during attacks and show sub-clinical inflammation when asymptomatic. The low incidence of amyloidosis cannot be explained by a predominance of non amyloidogenic SAA related genotypes. | | Human | RBP4 | 5950 | retinol binding protein 4, plasma | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | COX-2 influences APP processing and promotes amyloidosis in the brain | | Human | PSEN1 | 5663 | presenilin 1 | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | PON1 | 5444 | paraoxonase 1 | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | FURIN | 5045 | furin (paired basic amino acid cleaving enzyme) | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | MME | 4311 | membrane metallo-endopeptidase | In transgenic mouse models of amyloidosis, unilateral intracerebral injection of Lenti-Nep reduced amyloid-beta deposits and ameliorated neurodegenerative alterations in the frontal cortex and hippocampus | | Human | MEFV | 4210 | Mediterranean fever | Though the effects of the MEFV genotypes seem clear, there are definitely other modifying factors or genes such as MICA on the development of amyloidosis and on the course of the disease we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers Title:Familial Mediterranean fever in Lebanon: mutation spectrum evidence for cases in Maronites Greek orthodoxes Greek catholics Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.|Association:Y|Conclusion:The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). in Turkish Mediterranean Fever patients and their families, frequency of carriers was 27%, and the M694V/M694V genotype was more common in patients with amyloidosis M694V homozygosity is associated with phenotype II and amyloidosis compared to other common genotypes in Turkish patients with FMF Title:Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.|Association:Y|Conclusion:In this series we observed that FMF is the main cause of AA amyloidosis in Sephardic Jews and Turks. MEFV and TNFRSF1A mutations were found in only 6 of 14 Arab patients from the Maghreb. We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s). The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever. Disease severity and the development of amyloidosis in failial Mediterranean Fever are differentially affected by genetic variations within and outside the MEFV gene In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis Title:Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis|Association:Y|Conclusion:Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects. The severity of the disease and development of amyloidosis seem to have an association with M694V, the most common mutation in Syrian FMF patients | | Human | MBP | 4155 | myelin basic protein | INFERRED, Score=800, UMLKSK CUI: C0002726 | | Human | MBL2 | 4153 | mannose-binding lectin (protein C) 2, soluble | Variant MBL2 structural genotype constitutes a significant risk factor for reactive amyloidosis in RA and that the increased risk is probably related to MBL-mediated impairment of mononuclear phagocyte function | | Human | MAZ | 4150 | MYC-associated zinc finger protein (purine-binding transcription factor) | In transgenic mice SAF-1 plays a key role in the development of reactive amyloid A amyloidosis, a consequence of chronic inflammation | | Human | MAG | 4099 | myelin associated glycoprotein | Twenty of 46 patients with IgM amyloidosis (7 with and 13 without polyneuropathy) had elevation of anti-MAG or SGPG by enzyme-linked immunosorbent assay | | Human | LYZ | 4069 | lysozyme | findings indicate that a complex interplay between reduced native-state stability, lower secretion levels, and protein aggregation propensity influences the types of mutation that give rise to familial forms of amyloid disease |
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