Mutations of the Anti-Müllerian Hormone Gene in Patients with Persistent Müllerian Duct Syndrome: Biosynthesis, Secretion, and Processing of the Abnormal Proteins and Analysis Using a Three-Dimensional Model

Author:

Belville Corinne1,Van Vlijmen Herman2,Ehrenfels Christian2,Pepinsky Blake2,Rezaie Alireza R.2,Picard Jean-Yves1,Josso Nathalie1,Clemente Nathalie di1,Cate Richard L.2

Affiliation:

1. Unité de Recherches sur l’Endocrinologie du Développement (Institut National de la Santé et de la Recherche Médicale) (C.B., J.-Y.P., N.J., N.D.), 92140 Clamart, France

2. Biogen, Inc. (H.V.V., C.E., B.P., A.R.R., R.L.C.), Cambridge, Massachusetts 02142

Publisher

The Endocrine Society

Subject

Endocrinology,Molecular Biology,General Medicine

Reference43 articles.

1. Isolation of the bovine and human genes for Müllerian inhibiting substance and expression of the human gene in animal cells.;Cate;Cell,1986

2. Persistence of Müllerian derivatives in males.;Josso;Molecular biology in reproductive medicine,2003

3. Proteolytic processing of Müllerian inhibiting substance produces a transforming growth factor-β-like fragment.;Pepinsky;J Biol Chem,1988

4. Bioactivation of Mullerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease.;Nachtigal;Proc Natl Acad Sci USA,1996

5. Anti-Müllerian hormone, the Jost factor.;Josso;Recent Prog Horm Res,1993

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