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- W2318446435 abstract "La resistance aux hormones thyroidiennes est une maladie hereditaire de transmission autosomique dominante caracterisee par l'insensibilite de tissus, normalement reactifs, a une stimulation thyroidienne. On distingue trois formes cliniques differentes: generalisee, hypophysaire et peripherique extra-hypophysaire. Les techniques de biologie moleculaire ont permis l'identification de l'anomalie genetique au niveau de c-ErbAβ1, l'une des isoformes des recepteurs des hormones thyroidiennes. Soixante-trois anomalies genetiques differentes ont ete rapportees dans cent sept familles, entrainant notamment l'apparition d'une activite dominante negative, directement a l'origine du phenotype de resistance. La competition pour la liaison a l'ADN, la formation de dimeres inactifs et la consommation de cofacteurs de la transcription en quantite limitante, constituent les principaux mecanismes de cette resistance mais l'intervention de facteurs associes, genetiquement determines, est egalement fortement suspectee." @default.
- W2318446435 created "2016-06-24" @default.
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- W2318446435 date "1997-01-01" @default.
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- W2318446435 title "Syndromes de résistance aux hormones thyroïdiennes : bases moléculaires et pathogéniques" @default.
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