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neurocutaneous syndromes/tyrosine
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5 results
[Genetics of endocrine tumours].
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Major advances have been made in the understanding of the genetic mechanisms underlying endocrine tumorigenesis, through the study of several syndromes of genetic predisposition and the identification of the genes involved. The syndrome of type 1 multiple endocrine neoplasia (MEN-1) is one of the
Nevus comedonicus: an updated review.
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The intention of this review on nevus comedonicus (NC) is to update on clinical features, pathogenesis, and therapy. NC is a rare epidermal nevus type. It is part of the nevus comedonicus syndrome, a neurocutaneous disorder with ocular, skeletal, and central nervous symptoms. Recently, acne-related
Pheochromocytoma.
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Although pheochromocytoma is an uncommon cause of secondary hypertension, it is also a curable form of hypertension. With proper treatment, the outlook for patients with pheochromocytoma is excellent. If undiagnosed or untreated, pheochromocytoma causes serious complications and death. The key to
Perturbations of the AKT signaling pathway in human cancer.
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AKT/PKB (protein kinase B) kinases mediate signaling pathways downstream of activated tyrosine kinases and phosphatidylinositol 3-kinase. AKT kinases regulate diverse cellular processes including cell proliferation and survival, cell size and response to nutrient availability, tissue invasion and
Neurofibromatosis Type 1: New Developments in Genetics and Treatment
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Neurofibromatosis type 1 is the most common neurocutaneous syndrome with a frequency of 1 in 2500 persons. Diagnosis is paramount in the pretumor stage in order to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss of function mutations in the NF1 gene
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