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The growth hormone receptor in growth. |
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| Authors: | Pierre Bougnères Vincent Goffin |
| Institution: | 1. Inserm, Unit 561, Department of Pediatric Endocrinology, Hôpital St Vincent de Paul-Cochin, 82 Avenue Denfert Rochereau, 75014 Paris, France;2. Inserm, Unit 808, Faculté de Médecine Necker, 75015 Paris, France;3. Université Paris V-René Descartes, Paris, France |
| Abstract: | The growth hormone receptor (GHR) is a major effector of Human growth. Functional variants of the GHR include very rare loss-of-function mutations (pathology) and very common polymorphisms (physiology). Recent experimental data have clarified the mechanisms through which mutations of the GHR or Stat5 lead to growth hormone insensitivity and major monogenic growth defects. Recent pharmacogenetic studies support that the response to growth-promoting administration of growth hormone is influenced by exon 3 polymorphism of the GHR. |
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