학술논문
Identification of the first patient with a confirmed mutation of the JAK-STAT system.
Document Type
Article
Author
Source
Subject
*SOMATOTROPIN
*INSULIN
*GROWTH factors
*CYTOKINES
*HYPOGLYCEMIC agents
*BACTERIOPHAGES
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*
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Language
ISSN
0931-041X
Abstract
Growth hormone insensitivity (GHI) has been attributable, classically, to mutations in the gene for the GH receptor. After binding to the GH receptor, GH initiates signal transduction through a number of pathways, including the JAK-STAT pathway. We describe the first patient reported with a mutation in the gene for STAT5b, a protein critical for the transcriptional regulation of insulin-like growth factor-I. [ABSTRACT FROM AUTHOR]