MULTIPLE MUTATIONS IN A GH-R ALLELE. ▴ 514
نویسندگان
چکیده
منابع مشابه
Frequency of FLT3 ITD and FLT3 TKD Mutations in Multiple Myeloma Patients (A Case Control Study)
Background and Aims: Multiple myeloma is a malignant proliferation of plasma cells derived from a single clone. The tumor, its products and the host response lead to organ damages. Some factors that are responsible in its pathogenesis are recognized. As FMS like Tyrosine Kinase 3 receptor (FLT3) mutation has been proved as a determining factor in leukemic patients the goal of this study was to ...
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CONTEXT Alterations in the cAMP signaling pathway are common in hormonally active endocrine tumors. Somatic mutations at GNAS are causative in 30-40% of GH-secreting adenomas. Recently, mutations affecting the USP8 and PRKACA gene have been reported in ACTH-secreting pituitary adenomas and cortisol-secreting adrenocortical adenomas respectively. However, the pathogenesis of many GH-secreting ad...
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The objective of the study was to analyze the frequency of APOE4 allele in elderly patients with Alzheimer’s or vascular dementia or depression; compare these to age/sex matched controls; compare the results with established literature and highlight new findings.A single center, multiple disease, case-control study was performed with three case groups- probable AD patients (n=36), vasc...
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A girl with severe growth retardation had the clinical features of Laron syndrome. Her serum insulin-like growth factor-I level was completely unresponsive to exogenous GH administration. The serum GH-binding protein (GHBP) level was below the detectable limit in the patient, but it was normal in her parents and brother. Her parents and brother were normal in their height. Amplification with PC...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199604001-00534