کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8627359 | 1568655 | 2018 | 42 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations
ترجمه فارسی عنوان
یک گیرنده ی یک پروتئین یتیم یک پروتئین سبب گنجانتیسم انسان و / یا آکرومگالی می شود: زیست شناسی مولکولی و همبستگی بالینی
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
علوم غدد
چکیده انگلیسی
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3â²,5â²-cyclic adenosine monophosphate signaling pathway. Highly expressed in the central nervous system, the main physiological function and ligand of GPR101 remain unknown, but it seems to play a role in the normal development of the GHRH-GH axis. Early recognition of X-LAG cases is imperative because these patients require clinical management that differs from that of other patients with acromegaly or gigantism. Medical treatment with pegvisomant seems to be the best approach, since X-LAG tumors are resistant to the treatment with somatostatin analogues and dopamine agonists; surgical cure requires near-total hypophysectomy. Currently, the efforts of our research focus on the identification of GPR101 ligands; in addition, the long-term follow-up of X-LAG patients is of extreme interest as this is expected to lead to better understanding of GPR101 effects on human pathophysiology.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 32, Issue 2, April 2018, Pages 125-140
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 32, Issue 2, April 2018, Pages 125-140
نویسندگان
Giampaolo (PhD, Postdoctoral Fellow), Laura C. (MD, PhD, Postdoctoral Fellow), Jeremy (BA, Biovisualization Specialist), Constantine A. (MD, D(med)Sci, Principal Investigator),