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Human growth disorders: molecular genetics of the growth hormone–insulin‐like growth factor I axis
Author(s) -
Rotwein P
Publication year - 1999
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1999.tb14372.x
Subject(s) - molecular genetics , transcription factor , growth factor , gene , somatic cell , growth hormone , insulin like growth factor , biology , endocrine system , endocrinology , genetics , medicine , hormone , bioinformatics , receptor
Rotwein P. Human growth disorders: molecular genetics of the growth hormone‐insulin‐like growth factor I axis. Acta Paidiatr 1999; Suppl 428: 148–51. Stockholm. ISSN 0803–5326 The critical role of the growth hormone‐insulin‐like growth factor I axis in controlling somatic growth in humans and other vertebrate species has been known for many years. Through molecular cloning and other related techniques many of the components of this axis have been characterized, with the most recent additions being key transcription factors required for pituitary development and for pituitary‐specific gene expression. Several of these genes have been shown to be mutated in familial and sporadic human growth deficiency syndromes, thereby validating the central roles of the encoded proteins in the endocrine pathways regulating somatic growth. The purpose of this review is to highlight these recent advances from the perspective of the molecular genetics of human growth disorders. □ Growth hormone, growth hormone receptor, growth hormone‐releasing hormone, growth hormone‐releasing hormone receptor, insulin‐like growth factor‐I, insulin‐like growth factor‐1 receptor, Pit‐1, Prop‐1