Biomaterial Database

Human growth disorders: molecular genetics of the growth hormone-insulin-like growth factor I axis. 1999

P Rotwein

Department of Medicine, Oregon Health Sciences University, Portland 97035-3098, USA.

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.

UI	MeSH Term	Description	Entries
D007334	Insulin-Like Growth Factor I	A well-characterized basic peptide believed to be secreted by the liver and to circulate in the blood. It has growth-regulating, insulin-like, and mitogenic activities. This growth factor has a major, but not absolute, dependence on GROWTH HORMONE. It is believed to be mainly active in adults in contrast to INSULIN-LIKE GROWTH FACTOR II, which is a major fetal growth factor.	IGF-I,Somatomedin C,IGF-1,IGF-I-SmC,Insulin Like Growth Factor I,Insulin-Like Somatomedin Peptide I,Insulin Like Somatomedin Peptide I
D008967	Molecular Biology	A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.	Biochemical Genetics,Biology, Molecular,Genetics, Biochemical,Genetics, Molecular,Molecular Genetics,Biochemical Genetic,Genetic, Biochemical,Genetic, Molecular,Molecular Genetic
D006130	Growth Disorders	Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.	Stunted Growth,Stunting,Disorder, Growth,Growth Disorder,Growth, Stunted,Stuntings
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001368	Axis, Cervical Vertebra	The second cervical vertebra.	Epistropheus,C2 Vertebra,Cervical Vertebra Axis,Os Odontoideum,C2 Vertebras,Vertebra Axis, Cervical
D012680	Sensitivity and Specificity	Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)	Specificity,Sensitivity,Specificity and Sensitivity
D019382	Human Growth Hormone	A 191-amino acid polypeptide hormone secreted by the human adenohypophysis (PITUITARY GLAND, ANTERIOR), also known as GH or somatotropin. Synthetic growth hormone, termed somatropin, has replaced the natural form in therapeutic usage such as treatment of dwarfism in children with growth hormone deficiency.	Somatotropin (Human),Somatropin (Human),Cryo-Tropin,Genotonorm,Genotropin,Humatrope,Maxomat,Norditropin,Norditropin Simplexx,Norditropine,Nutropin,Omnitrope,Recombinant Human Growth Hormone (Mammalian),Saizen,Serostim,Somatropin,Umatrope,Zomacton,hGH (Human Growth Hormone),r-hGH(m),r-hGH-M,Cryo Tropin,CryoTropin,Growth Hormone, Human