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cohort of individuals with severe isolated GH deficiency (IGHD) caused by a homozygous (c.57+1G→A) mutation in the GHRH receptor (GHRHR) gene ( GHRHR OMIM n.618157) ( 18 ). Most affected adults have not received GH replacement and exhibit normal lifespan
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
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Department of Physical Therapy and Post-Graduate Program in Health Science, Federal University of Sergipe, The GREAT Group (GRupo de Estudos em ATividade física), Sergipe, Brazil
Department of Physical Therapy and Neuroscience, Wertheims’ College of Nursing and Health Science, Florida International University, Miami, Florida, USA
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R . MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation . European Journal of Endocrinology 2017 177 R85 – R92 . ( https
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congenital isolated GHD (IGHD) due to the c.57+1G>A mutation in the GHRH receptor (GHRHR) gene ( GHRHR ), who reside in Itabaianinha county in northeast Brazil (9) . Individuals homozygous for this mutation (MUT/MUT) have very low serum GH and IGF1 levels
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the GHRH receptor gene ( GHRHR ) (15) . These subjects have very low circulating serum IGF1 levels and could therefore be predisposed to developing NAFLD (16) . Despite abdominal obesity and unfavorable cardiovascular risk profile (high total and LDL
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-deficient Ames dwarf mice, GH receptor/GH binding protein-knockout (GHRKO) GH-resistant mice and GHRH-knockout (GHRHKO) mice show increased lifespan ( 7 , 8 ). Both Ames and GHRKO strains do not show altered behavioural, learning and memory parameters, but
Adelaide Medical School, The University of Adelaide, Adelaide, Australia
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Adelaide Medical School, The University of Adelaide, Adelaide, Australia
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concentrations ( 4 , 5 , 6 ). In contrast to humans, most mammalian species do not produce placental GH ( 7 ). Murine placenta expresses placental-specific genes related to prolactin rather than GH, and these act at least in part through the prolactin receptor
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. Actually, chronic glucocorticoid excess is well known to suppress GH release by altering the activity of both GHRH and somatostatin neurons ( 56 ). The integration of multiple central and peripheral signals activating their own receptors at the
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GHRH receptor gene defects Meningioma GH gene defects Glioma/astrocytoma GH receptor/post-receptor defects Neoplastic sellar and parasellar lesions Associated with brain structural defects Chordoma Single
Department of Nuclear Medicine, CHU de Bordeaux, Pessac, France
INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France
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INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France
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Department of Nuclear Medicine, CHU de Bordeaux, Pessac, France
INRA, Nutrition et Neurobiologie Intégrée, UMR1286, Bordeaux, France
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somatotrophs through pit-1 transcription factor ( 79 ) but also in the expression of growth hormone-releasing hormone (GH-RH) receptors in somatotrophs as there is a RARE in the promoter of GH-RH receptor gene ( 80 ). In developed somatotrophs, retinoids affect
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Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark
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Steno Diabetes Center Aarhus (SDCA), Aarhus University Hospital, Aarhus, Denmark
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challenging ( 9 ). Glucagon has also been shown to stimulate copeptin secretion, whereas the ghrelin-receptor agonist, macimorelin, has failed to stimulate copeptin ( 10 ). Arginine infused intravenously is assumed to suppress hypothalamic somatostatin