Biochemically silent sympathetic Paraganglioma, Pheochromocytoma or Metastatic Disease in SDHD mutation carriers

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Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma

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Carotid body paraganglioma and SDHD mutation in a Greek family.

BACKGROUND Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs). MATERIALS AND METHODS We studi...

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Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.

To date, the consequences of succinate dehydrogenase (SDH) impairment on overall mitochondrial functions are still obscure. In this study, we evaluated SDH activity and expression and mitochondrial homeostasis in 57 tissue samples of pheochromocytoma (PHEO)/paraganglioma (PGL) obtained from patients genotyped for PHEO/PGL susceptibility genes. The resulted SDH activity and content always decrea...

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ژورنال

عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism

سال: 2019

ISSN: 0021-972X,1945-7197

DOI: 10.1210/jc.2019-00202