Article
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
Human mutation - 1 Jul 2002
Wautot Virginie, Vercherat Cécile, Lespinasse James, Chambe Béatrice, Lenoir Gilbert M, Zhang Chang X, Porchet Nicole, Cordier Martine, Béroud Christophe, Calender Alain
Abstract excerpt
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by endocrine tumors of the parathyroids, the pancreatic islets, and the anterior pituitary. The MEN1 gene encodes menin, a nuclear protein interacting with JunD/AP1, Smad3, NFkappaB, and other proteins involved in transcription and cell growth regulation. Here, by exhaustive sequence analysis of 170 probands/families...
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