Abstract:
:Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by hamartomas in a variety of tissues including the skin, thyroid, breast, endometrium, and the brain. Individuals with CS are predisposed to development of malignancy in these organs, especially the breast and the thyroid. We describe 3 unrelated individuals with CS associated with germline PTEN mutations. While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan Zonana phenotype.
journal_name
Exp Dermatoljournal_title
Experimental dermatologyauthors
Celebi JT,Ping XL,Zhang H,Remington T,Sulica VI,Tsou HC,Peacocke Mdoi
10.1034/j.1600-0625.2000.009002152.xsubject
Has Abstractpub_date
2000-04-01 00:00:00pages
152-6issue
2eissn
0906-6705issn
1600-0625journal_volume
9pub_type
杂志文章abstract::Given that metastasized melanoma is a fatal disease in most cases, it is tempting to develop strategies to a priori prevent metastasis. We have stimulated the pulmonary innate immune system by macrophage-activating lipopeptide-2 (MALP-2), a specific agonist at Toll-like receptor (TLR) 2/6, and investigated its impact ...
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