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Showing 1–7 of 7 results
Advanced filters: Author: Marcus Quinkler Clear advanced filters

  • The molecular mechanisms underlying metastasis in pheochromocytoma/paraganglioma (mPPGL) remain to be explored. Here, the authors perform genomic and immunogenomic profiling of mPPGL tumors and suggest potential biomarkers for risk of metastasis and immunotherapy response.

    • Bruna Calsina
    • Elena Piñeiro-Yáñez
    • Mercedes Robledo
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-20

  • A once-daily, modified-release hydrocortisone medication reduces BMI and improves glucose metabolism compared with the twice- or thrice-daily standard hydrocortisone treatment in patients with adrenal insufficiency. Now, further evidence emerges that changing to a once-daily, modified-release hydrocortisone medication improves the immune cell profile and results in fewer infections.

    • Lisa Müller
    • Marcus Quinkler
    News & Views
    Nature Reviews Endocrinology
    Volume: 14, P: 137-139

  • Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type KCNJ5. The ATP1A1 and ATP2B3 mutations alter conserved residues and lead to impaired sodium, potassium and calcium ion homeostasis.

    • Felix Beuschlein
    • Sheerazed Boulkroun
    • Martin Reincke
    Research
    Nature Genetics
    Volume: 45, P: 440-444

  • Jérôme Bertherat, Aurélien de Reyniès and colleagues perform integrated genomic analyses of adrenocortical carcinomas. They discover recurrent alterations in several new driver genes, including ZNRF3, DAXX, TERT and MED12, and identify two distinct molecular subgroups with opposite clinical outcomes.

    • Guillaume Assié
    • Eric Letouzé
    • Jérôme Bertherat
    Research
    Nature Genetics
    Volume: 46, P: 607-612

  • Adrenal insufficiency (AI) is an endocrine disorder characterized by adrenal hypofunction, resulting in cortisol deficiency. In this Primer, Hahner and colleagues describe the different types of AI, their epidemiology, pathophysiology and diagnosis. Additionally, the authors discuss specific challenges associated with the long-term management of this disorder and strategies to prevent adrenal crises.

    • Stefanie Hahner
    • Richard J. Ross
    • Marcus Quinkler
    Reviews
    Nature Reviews Disease Primers
    Volume: 7, P: 1-24