INT335729

Context Info Confidence 0.01 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 3 Disease Relevance 2.54 Pain Relevance 0

molecular_function (Vmn1r155) cellular_component (Vmn1r155) biological_process (Vmn1r155)

Anatomy Link Frequency muscle 2 Vmn1r155 (Mus musculus) Vmn1r155 - R155H (3)

Pain Link Frequency Relevance Heat imagery 9 28.32 Eae 15 5.20 Hippocampus 12 5.00 cytokine 6 5.00 anesthesia 3 5.00 isoflurane 3 5.00 Neurotransmitter 3 5.00 Pain 3 5.00

Disease Link Frequency Relevance Heat Disease 81 100.00 Targeted Disruption 285 99.78 Apoptosis 72 99.66 Muscle Weakness 51 96.60 Muscle Disease 30 94.00 Death 3 91.24 Embryonic Lethality 3 89.68 Brain Disease 9 83.16 Frontotemporal Dementia 24 70.56 Convulsion 39 42.64

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

These findings suggested that mutated VCP may also cause apoptosis in mouse muscle expressing the R155H disease mutation.

Gene_expression (expressing) of R155H (R155H) in muscle associated with disease and apoptosis

1) Confidence 0.01 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 1.05 Pain Relevance 0

On the other hand, transgenic mice over-expressing the most common human IBMPFD mutation, R155H, under the regulation of a muscle creatine kinase promoter demonstrated progressive muscle weakness in a dose-dependent manner starting at 6 months of age.

Gene_expression (expressing) of R155H (R155H) in muscle associated with targeted disruption and muscle weakness

2) Confidence 0.01 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.51 Pain Relevance 0

To be able to elucidate tissue and cellular pathology of IBMPFD, we have generated a knock-in mouse model that expresses the most common VCP disease mutation R155H at endogenous level.

Gene_expression (expresses) of R155H (R155H) associated with targeted disruption and disease

3) Confidence 0.01 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2950155 Disease Relevance 0.99 Pain Relevance 0

General Comments

This test has worked.