INT74178

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Context Info
Confidence 0.76
First Reported 1998
Last Reported 2009
Negated 0
Speculated 1
Reported most in Body
Documents 24
Total Number 25
Disease Relevance 9.62
Pain Relevance 1.36

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

cytosol (HMBS) small molecule metabolic process (HMBS) nucleus (HMBS)
cytoplasm (HMBS)
Anatomy Link Frequency
fibroblasts 2
myocardium 1
skeletal muscle 1
connective tissues 1
heart 1
HMBS (Homo sapiens)
Pain Link Frequency Relevance Heat
palliative 14 95.68 Very High Very High Very High
alcohol 7 95.64 Very High Very High Very High
abdominal pain 4 90.80 High High
Osteoarthritis 25 82.96 Quite High
agonist 61 82.64 Quite High
Kinase C 3 76.24 Quite High
dexamethasone 1 76.24 Quite High
Inflammation 84 65.36 Quite High
addiction 2 50.88 Quite High
cINOD 15 36.40 Quite Low
Disease Link Frequency Relevance Heat
Porphyria 74 100.00 Very High Very High Very High
Dilated Cardiomyopathy 1 99.46 Very High Very High Very High
Hepatic Porphyrias 3 99.44 Very High Very High Very High
Congenital Anomalies 5 99.06 Very High Very High Very High
Infection 1 97.04 Very High Very High Very High
Coronary Heart Disease 9 96.88 Very High Very High Very High
Disease 55 93.68 High High
Repression 12 92.64 High High
Cancer 315 92.40 High High
Left Ventricular Hypertrophy 1 91.04 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
An initial step towards gene therapy was recently taken by showing that PBGD could be expressed to correct the enzyme deficiency in AIP fibroblasts.
Gene_expression (expressed) of PBGD in fibroblasts associated with porphyria
1) Confidence 0.76 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.59 Pain Relevance 0.10
Porphobilingen deaminase (PBGD), a low abundance housekeeping gene that is expressed at constant levels in a wide range of tissues was used as reference.
Gene_expression (expressed) of PBGD
2) Confidence 0.75 Published 2008 Journal BMC Cancer Section Body Doc Link PMC2409350 Disease Relevance 0 Pain Relevance 0
The effect of this mutation was investigated by expression of the wildtype and mutated PBGD in a prokaryotic expression system.
Spec (investigated) Gene_expression (expression) of PBGD
3) Confidence 0.67 Published 2007 Journal Folia Biol. (Praha) Section Abstract Doc Link 18070416 Disease Relevance 0.29 Pain Relevance 0.06
Porphobilinogen deaminase (PBGD), the third enzyme in the biosynthesis of heme, is deficient in acute intermittent porphyria (AIP).
Gene_expression (biosynthesis) of PBGD associated with porphyria
4) Confidence 0.66 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.46 Pain Relevance 0.09
Porphobilinogen deaminase (PBGD), the third enzyme in the biosynthesis of heme, is deficient in acute intermittent porphyria (AIP).
Gene_expression (biosynthesis) of Porphobilinogen associated with porphyria
5) Confidence 0.66 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.46 Pain Relevance 0.09
(Vandesompele et al., 2002) At least three out of the following four housekeeping genes were used for each experiment: glyceraldehyde-3 phosphate dehydrogenase (GAPDH), hypoxanthine phosphoribosyltransferase 1 (HPRT1), human porphobilinogen deaminase (PBGD) and TATA box binding protein (TBP).
Gene_expression (used) of porphobilinogen deaminase
6) Confidence 0.65 Published 2006 Journal BMC Cancer Section Body Doc Link PMC1481577 Disease Relevance 0.29 Pain Relevance 0
(Vandesompele et al., 2002) At least three out of the following four housekeeping genes were used for each experiment: glyceraldehyde-3 phosphate dehydrogenase (GAPDH), hypoxanthine phosphoribosyltransferase 1 (HPRT1), human porphobilinogen deaminase (PBGD) and TATA box binding protein (TBP).
Gene_expression (used) of PBGD
7) Confidence 0.65 Published 2006 Journal BMC Cancer Section Body Doc Link PMC1481577 Disease Relevance 0.29 Pain Relevance 0
The expression of HMBS was previously found to be unaffected by LPS-infusion within myocardium and skeletal muscle (data not shown).
Gene_expression (expression) of HMBS in skeletal muscle
8) Confidence 0.65 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2736646 Disease Relevance 0 Pain Relevance 0
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Gene_expression (deficient) of porphobilinogen
9) Confidence 0.59 Published 2003 Journal Mol. Cell. Biochem. Section Title Doc Link 12962144 Disease Relevance 0.59 Pain Relevance 0.09
The expression of two housekeeping genes Beta actin (ACTB) and Hydroxymethyl-bilane synthase (HMBS) was used to normalize for transcription and amplification variations among samples.
Gene_expression (expression) of HMBS
10) Confidence 0.58 Published 2006 Journal Respir Res Section Body Doc Link PMC1481584 Disease Relevance 0 Pain Relevance 0
These results show that non-viral gene delivery of plasmids encoding PBGD results in a high expression of functional PBGD shown by induced synthesis of PP in PBGD deficient cells after supplementation of ALA and PBG.
Gene_expression (expression) of PBGD associated with porphyria
11) Confidence 0.52 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.40 Pain Relevance 0.05
Human AIP fibroblasts synthesized 21% and mouse PBGD deficient fibroblasts only 11% of the PP amount synthesized in respective control cells.
Gene_expression (synthesized) of PBGD in fibroblasts associated with porphyria
12) Confidence 0.52 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.63 Pain Relevance 0.08
These results show that non-viral gene delivery of plasmids encoding PBGD results in a high expression of functional PBGD shown by induced synthesis of PP in PBGD deficient cells after supplementation of ALA and PBG.
Gene_expression (deficient) of PBGD associated with porphyria
13) Confidence 0.52 Published 2003 Journal Mol. Cell. Biochem. Section Abstract Doc Link 12962144 Disease Relevance 0.39 Pain Relevance 0
Prokaryotic expression of the mutant alleles of the hydroxymethylbilane synthase gene revealed that, with the exception of the p.Gln204Lys mutation, all mutations resulted in little, if any, enzymatic activity.
Gene_expression (expression) of hydroxymethylbilane synthase
14) Confidence 0.46 Published 2009 Journal FEBS J. Section Abstract Doc Link 19292878 Disease Relevance 0.26 Pain Relevance 0
Acute intermittent porphyria is an autosomal dominantly inherited disorder, classified as acute hepatic porphyria, caused by a deficiency of hydroxymethylbilane synthase (EC 2.5.1.61, EC 4.3.1.8, also known as porphobilinogen deaminase, uroporphyrinogen I synthase), the third enzyme in heme biosynthesis.
Gene_expression (biosynthesis) of hydroxymethylbilane synthase associated with porphyria and hepatic porphyrias
15) Confidence 0.40 Published 2009 Journal FEBS J. Section Abstract Doc Link 19292878 Disease Relevance 0.67 Pain Relevance 0.09
The geNorm algorithm is employed to investigate the expression stability of 9 commonly used reference genes (glyceraldehyde-3-phosphate dehydrogenase [GAPDH], beta-actin [ACTB], beta-2-microglobulin [B2M] hydroxymethylbilane synthase [HMBS], hypoxanthine guanine phosphoribosyl transferase [HPRT], ribosomal protein L13a [RPL13A], succinate dehydrogenase flavoprotein subunit A [SDHA], TATA box binding protein [TBP] and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide [YWHAZ]) [11] in normal and diseased canine connective tissues.
Gene_expression (expression) of HMBS in connective tissues
16) Confidence 0.37 Published 2007 Journal BMC Vet Res Section Body Doc Link PMC1884148 Disease Relevance 0.67 Pain Relevance 0.22
The PBGD expression level remained stable with widely varying experimental setups and was also within the RNA expression range of the target gene.
Gene_expression (expression) of PBGD
17) Confidence 0.23 Published 2006 Journal BMC Urol Section Body Doc Link PMC1435920 Disease Relevance 0.67 Pain Relevance 0
The expression of HMBS was previously found to be unaffected by LPS-infusion within myocardium and skeletal muscle (data not shown).
Gene_expression (expression) of HMBS in myocardium
18) Confidence 0.22 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2736646 Disease Relevance 0 Pain Relevance 0
The PBGD expression level remained stable with widely varying experimental setups and was also within the RNA expression range of the target gene.
Gene_expression (expression) of PBGD
19) Confidence 0.20 Published 2006 Journal BMC Urol Section Body Doc Link PMC1435920 Disease Relevance 0.76 Pain Relevance 0
to control the expression of components of the UPS, like ubiquitin ligases, or via
Gene_expression (expression) of UPS
20) Confidence 0.17 Published 2008 Journal PPAR Research Section Body Doc Link PMC2423003 Disease Relevance 0.17 Pain Relevance 0.07

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