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Genes (19)
Species: human : 19 | |
Human | SLC28A3 | 64078 | solute carrier family 28 (concentrative nucleoside transporter), member 3 | These data suggest that selected genes of the SLC28 and SLC29 families are not only targets of HIV-1 infection, but might also contribute to the development of adipose tissue alterations leading to lipodystrophy | Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | LPIN1 | 23175 | lipin 1 | Our data do not support a major effect of common LPIN1 variation on metabolic traits and suggest that mutations in LPIN1 are not a common cause of lipodystrophy in humans LPIN1 mutations are not commonly seen in patients with lipodystrophy who had no mutations in known disease genes | Human | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | ZMPSTE24 | 10269 | zinc metallopeptidase STE24 | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | Adiponectin levels were significantly lower in HIV-infected men with lipodystrophy as compared to both HIV-infected and healthy controls; adiponectin deficiency may play a role in the insulin resistance associated with HIV lipodystrophy | Human | NR0B2 | 8431 | nuclear receptor subfamily 0, group B, member 2 | polymorphisms in the human SHP1 gene; found no rare SHP1 coding sequence variants that were exclusive to patients with lipodystrophy | Human | TNF | 7124 | tumor necrosis factor | data suggest that the -238 promoter region TNF-alpha gene polymorphism is a determinant in the development of HIV-related lipodystrophy TNF-alpha is associated with insulin-mediated suppression of free fatty acids and net lipid oxidation in HIV-infected patients with lipodystrophy Title:Tumour necrosis factor-alpha gene -238G/A promoter polymorphism associated with a more rapid onset of lipodystrophy.|Association:Y|Conclusion:Not Found | Human | CCL2 | 6347 | chemokine (C-C motif) ligand 2 | monocyte chemoattractant protein-1 has a role in carotid atherosclerosis in HIV-infected patients with lipodystrophy | Human | RARB | 5915 | retinoic acid receptor, beta | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | PPARG | 5468 | peroxisome proliferator-activated receptor gamma | No lipodystrophy in face and neck | Human | LMNA | 4000 | lamin A/C | No lipodystrophy in face and neck Lipodystrophy, generalized Correlation between LMNA adipose expression and cytokine and adipogenic gene markers in HIV-positive patients, regardless of presence or absence of lipodystrophy identified the epitope recognized by a new panel of mAbs against lamin A/C as a sequence of 9 amino acids that contain a complete beta-strand of the Ig-like globular domain; the major site of lipodystrophy missense mutation, R482 is present in the epitope Mutations in the LMNA gene are responsible for several laminopathies, including lipodystrophies, with complex genotype/phenotype relationships Mutations in the lamin A/C gene found associated with lipodystrophy, cardiac abnormalities, and muscular dystrophy | Human | LEP | 3952 | leptin | Leptin plasma levels were significantly higher in HIV-infected men with lipodystrophy as compared to HIV-infected controls (5.2 vs 3.0 ng/ml Recombinant human leptin leads to significant and sustained improvements in glycemia, dyslipidemia, serum leptic levels, hepatic steatosis and represents the first novel, effective, long-term treatment for severe forms of lipodystrophy | Human | IL8 | 3576 | interleukin 8 | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | IL1B | 3553 | interleukin 1, beta | INFERRED, Score=800, UMLKSK CUI: C0023787 | Human | CRABP2 | 1382 | cellular retinoic acid binding protein 2 | In this study, we excluded mutations within the complete coding region and the promoter of LMNA and the CRABP II gene in HIV-1 infected patients with lipodystrophy | Human | CAV1 | 857 | caveolin 1, caveolae protein, 22kDa | Very rare CAV1 frameshift mutations appear to be associated with atypical lipodystrophy and hypertriglyceridemia | Human | FAS | 355 | Fas cell surface death receptor | CD95-death-induces a signaling complex formation resulting in a robust sensitization for CD95-mediated apoptosis in autoimmune lipodystrophy |
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