Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.

Belville, Corinne; Maréchal, Jean-Didier; Pennetier, Sophie; Carmillo, Paul; Masgrau, Laura; Messika-Zeitoun, Liza; Galey, Julie; Machado, Gabrielle; Treton, Dominique; Gonzalès, Jacques; Picard, Jean-Yves; Josso, Nathalie; Cate, Richard L; di Clemente, Nathalie

Belville, Corinne; Maréchal, Jean-Didier; Pennetier, Sophie; Carmillo, Paul; Masgrau, Laura; Messika-Zeitoun, Liza; Galey, Julie; Machado, Gabrielle; Treton, Dominique; Gonzalès, Jacques; Picard, Jean-Yves; Josso, Nathalie; Cate, Richard L; di Clemente, Nathalie.

Affiliation

Belville C; INSERM U782, 32 rue des Carnets, Clamart F-92140, France.

Hum Mol Genet ; 18(16): 3002-13, 2009 Aug 15.

Article in En | MEDLINE | ID: mdl-19457927

Subject(s)

Anti-Mullerian Hormone/metabolism; Disorders of Sex Development/genetics; Mutation; Receptors, Peptide/genetics; Receptors, Peptide/metabolism; Receptors, Transforming Growth Factor beta/genetics; Receptors, Transforming Growth Factor beta/metabolism; Signal Transduction; Amino Acid Sequence; Animals; COS Cells; Cell Line; Chlorocebus aethiops; Disorders of Sex Development/metabolism; Humans; Ligands; Mice; Molecular Sequence Data; Protein Binding; Protein Structure, Tertiary; Protein Transport; Receptors, Peptide/chemistry; Receptors, Transforming Growth Factor beta/chemistry; Sequence Alignment

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Full text: 1 Database: MEDLINE Main subject: Disorders of Sex Development / Signal Transduction / Receptors, Transforming Growth Factor beta / Receptors, Peptide / Anti-Mullerian Hormone / Mutation Type of study: Prognostic_studies Limits: Animals / Humans Language: En Year: 2009 Type: Article

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