کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8958256 | 1646249 | 2018 | 11 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genetics of primary macronodular adrenal hyperplasia
ترجمه فارسی عنوان
ژنتیک هیپرپلازی آدرنال ماکرونودولار اولیه
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پزشکی و دندانپزشکی (عمومی)
چکیده انگلیسی
Recent advances in molecular genetics investigations of primary macronodular adrenal hyperplasia (PMAH) have been providing new insights for the research on this issue. The cAMP-dependent pathway is physiologically triggered by ACTH and its receptor, MC2-R, in adrenocortical cells. Different mechanisms of this cascade may be altered in some functioning adrenal cortical disorders. Activating somatic mutations of the GNAS gene (known as gsp oncogene) which encodes the stimulatory G protein alpha-subunit (Gsα) have been found in a small number of adrenocortical secreting adenomas and rarely in PMAH. Lately, ARMC5 was linked to the cyclic AMP signaling pathway, which could be implicated in all of mechanisms of cortisol-secreting by macronodules adrenal hyperplasia and the molecular defects in: G protein aberrant receptors; MC2R; GNAS; PRKAR1A; PDE11A; PDE8B. Around 50 % of patient's relatives with PMAH and 30 % of apparently sporadic hypercortisolism carried ARMC5 mutations. Therefore, PMAH is genetically determined more frequently than previously believed. This review summarizes the most important molecular mechanisms involved in PMAH.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: La Presse Médicale - Volume 47, Issues 7â8, Part 2, JulyâAugust 2018, Pages e139-e149
Journal: La Presse Médicale - Volume 47, Issues 7â8, Part 2, JulyâAugust 2018, Pages e139-e149
نویسندگان
Maria Candida Barisson Villares Fragoso, Isadora Pontes Cavalcante, Amanda Meneses Ferreira, Beatriz Marinho de Paula Mariani, Claudimara Ferini Pacicco Lotfi,