Journal
AMERICAN JOURNAL OF DERMATOPATHOLOGY
Volume 31, Issue 1, Pages 68-70Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/DAD.0b013e3181882c09
Keywords
tuberous sclerosis; S6rp; skin lesions
Categories
Funding
- Children's Memorial Health Institute [87105]
- Medical University of Warsaw [1M15/NM2/07, 1M15/W2/08]
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Skin lesions are one of the characteristic features in tuberous sclerosis (TS), a neurocutaneous disorder caused by mutation of 1 of 2 tumor suppressor genes, encoding hamartin and tuberin. So far, however, studies on skin abnormalities present in TS patients are very few and do not contribute to the knowledge of the disease. In our current work, we cultured fibroblasts from healthy skin of a TS patient and evaluated upregulation of pathways found to be implicated in progression of TS tumors. We found that even healthy skin fibroblasts show upregulation of S6 ribosomal protein.
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