作者
Michael P Wajnrajch, Joseph M Gertner, Madeleine D Harbison, Streamson C Chua Jr, Rudolph L Leibel
发表日期
1996/1/1
期刊
Nature genetics
卷号
12
期号
1
页码范围
88-90
出版商
Nature Publishing Group US
简介
Pituitary growth hormone release is under dual hypothalamic control, stimulated by growth hormone releasing hormone (GHRH) and inhibited by somatostatin. Childhood growth hormone deficiency (GHD), leading to dwarfism and metabolic dysfunction1, can result from a failure of hypothalamic GHRH production or release, from maldevel-opment of the pituitary somatotrophes, and from genetic disorders of growth hormone synthesis. Some familial cases of isolated GHD have been attributed to mutations in the growth hormone gene itself2 but in other families GHD is not linked to this locus2. The mouse dwarfism trait, little, is due to a recessively inherited missense mutation (lit) in the extracellular domain of the GHRH receptor (Ghrhr)3–6: Pituitary glands of the little mouse are deficient in growth hormone and are unresponsive to GHRH in vivo and in vitro7. Somatic growth is increased by systemic administration of …
引用总数
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