Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UNIPROT:P43146 (
tumour suppressor
)
5,935
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
von Recklinghausen disease/neurofibromatosis (NF) is caused by an autosomal dominant mutation in NF1, resulting in a deficiency of neurofibromin 1, a protein with a
tumour suppressor
function in the Ras-extracellular regulated kinase pathway. The disease comprises a variety of clinical manifestations, including vascular abnormalities. Large vessel abnormalities are well known, while small vessels of the skin are very rarely involved. The latter can cause
livedo
, necrosis and painful ulcers. For such ulcers, all invasive therapies (e.g. surgery and radiotherapy) are harmful and should be avoided. Herein, we describe a patient with NF and cutaneous vasculopathy treated with imatinib, a tyrosine kinase inhibitor.
...
PMID:Use of imatinib in a patient with cutaneous vasculopathy in the context of von Recklinghausen disease/neurofibromatosis. 2491 22
