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Advanced filters: Author: "Giovanna Mantovani" Clear advanced filters

  • Differential diagnosis between pseudohypoparathyroidism and related disorders of disrupted Gsα–cAMP signalling is a challenge for endocrinologists due to shared clinical and molecular characteristics. Here, Giovanna Mantovani and colleagues discuss both the current understanding and future challenges for the clinical and molecular diagnosis, classification and treatment of pseudohypoparathyroidism and related disorders.

    • Giovanna Mantovani
    • Anna Spada
    • Francesca Marta Elli
    Reviews
    Nature Reviews Endocrinology
    Volume: 12, P: 347-356

  • Many hormones use G-protein-coupled receptors and G proteins in the target cell to transduce their signals. A range of disease-causing mutations have been characterized that mimic states of hormone deficiency or excess. This Review describes these mutations, and their resultant clinical and biochemical features.

    • Andrea G Lania
    • Giovanna Mantovani
    • Anna Spada
    Reviews
    Nature Clinical Practice Endocrinology & Metabolism
    Volume: 2, P: 681-693