INT234937

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Context Info
Confidence 0.66
First Reported 2008
Last Reported 2008
Negated 1
Speculated 0
Reported most in Body
Documents 5
Total Number 5
Disease Relevance 4.14
Pain Relevance 0

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

cytosol (DSG1) plasma membrane (DSG1)
Anatomy Link Frequency
cardiomyocytes 1
epidermis 1
teeth 1
corneal epithelium 1
stem cells 1
DSG1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Kinase C 52 5.00 Very Low Very Low Very Low
metalloproteinase 24 5.00 Very Low Very Low Very Low
agonist 20 5.00 Very Low Very Low Very Low
corticosteroid 8 5.00 Very Low Very Low Very Low
addiction 8 5.00 Very Low Very Low Very Low
Pain 7 5.00 Very Low Very Low Very Low
Inflammatory mediators 4 5.00 Very Low Very Low Very Low
imagery 4 5.00 Very Low Very Low Very Low
antagonist 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Dentinogenesis Imperfecta 86 100.00 Very High Very High Very High
Sensorineural Hearing Loss 2 99.84 Very High Very High Very High
Arrhythmogenic Right Ventricular Dysplasia 12 99.16 Very High Very High Very High
Heart Defects 16 99.00 Very High Very High Very High
Bullous Skin Disease 1216 97.80 Very High Very High Very High
Osteogenesis Imperfecta 15 95.44 Very High Very High Very High
Arrhythmia Under Development 4 94.56 High High
Alopecia 8 94.12 High High
Embryonic Lethality 12 93.80 High High
Adhesions 205 90.36 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Normal teeth are never found in DGI-II.
Localization (found) of DGI-II in teeth associated with dentinogenesis imperfecta
1) Confidence 0.66 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2600777 Disease Relevance 1.41 Pain Relevance 0
Interestingly, all defects of desmosomal components causing heart defects such as desmoplakin, plakoglobin, plakophilin 2, Dsg 2 and Dsc 2 lead to the phenotype of arrhythmogenic right ventricular cardiomyopathy (ARVC) which is clinically characterized by right bundle block and arrhythmia and histologically by fibrofatty replacement of cardiomyocytes, possibly due to impaired cell adhesion caused by loss and alterations of desmosomes (Asimaki et al. 2007; Gerull et al. 2004; McKoy et al. 2000; Pilichou et al. 2006; Rampazzo et al. 2002; Syrris et al. 2006; Heuser et al. 2006).
Localization (lead) of Dsg in cardiomyocytes associated with arrhythmia under development, heart defects, adhesions and arrhythmogenic right ventricular dysplasia
2) Confidence 0.37 Published 2008 Journal Histochem Cell Biol Section Body Doc Link PMC2413110 Disease Relevance 1.29 Pain Relevance 0
In PV, epidermal involvement would occur only when autoantibodies against both Dsg 1 and Dsg 3 are present because Dsg 1 is found in all epidermal layers and could compensate for loss of Dsg 3 binding when antibodies to Dsg 3 are solely presentFig. 10Immunostaining of Dsg 1 and Dsg 3 in PV lesional epidermis.
Localization (found) of Dsg in epidermis associated with bullous skin disease
3) Confidence 0.37 Published 2008 Journal Histochem Cell Biol Section Body Doc Link PMC2413110 Disease Relevance 1.06 Pain Relevance 0
Interestingly, in the stratified corneal epithelium, only Dsg 1 and Dsc1 are present indicating that these desmosomal cadherins in the absence of Dsg 1 and Dsg 3 are sufficient to maintain cohesion in stratified epithelia also.
Neg (absence) Localization (absence) of Dsg in corneal epithelium
4) Confidence 0.37 Published 2008 Journal Histochem Cell Biol Section Body Doc Link PMC2413110 Disease Relevance 0.09 Pain Relevance 0
Because lethality induced by Dsc 3 deficiency occurred before mature desmosmes were formed, and because Dsg 2 was observed to be also localized outside of desmosomes in embryonal stem cells, non-desmosmal functions of Dsc 3 and Dsg 2 seemed to be responsible in this context.
Localization (localized) of Dsg in stem cells
5) Confidence 0.35 Published 2008 Journal Histochem Cell Biol Section Body Doc Link PMC2413110 Disease Relevance 0.30 Pain Relevance 0

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