Natalya Kalintchenko

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We have shown recently that the rapid decline in corticotrophin-releasing hormone (CRH) transcription following activation by stress is associated with induction and binding to the CRH promoter of the repressor isoforms of cAMP responsive element modulator (CREM), inducible cAMP early repressor (ICER). The ability of ICER to inhibit CRH transcription was(More)
CONTEXT Aromatase excess syndrome (AES) is a rare hereditary autosomal dominant disorder characterized by increased extraglandular aromatization of steroids and presented with heterosexual precocity in males and isosexual precocity in females. OBJECTIVE The objective was to study the molecular basis of AES in a kindred with 16 affected subjects, both(More)
CONTEXT Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene. OBJECTIVE We analyzed the functional and structural consequences of the four CYP21A2 missense mutations (C169R, G178R, W302R, and(More)
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