Identification of the first patient with a confirmed mutation of the JAK-STAT system
| Autor: | Ron G. Rosenfeld, Katherine A. Pratt, Brian M. Little, Liliana Bezrodnik, Juan J. Heinrich, Hector Jasper, Vivian Hwa, Eric M. Kofoed, Caroline K. Buckway, Junko Tsubaki, Alejandro Tepper, Katie A. Woods |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Adolescent
STAT5B medicine.disease_cause Growth hormone Proto-Oncogene Proteins STAT5 Transcription Factor medicine Transcriptional regulation Humans Gene Mutation GH Receptor business.industry JAK-STAT signaling pathway Janus Kinase 2 Protein-Tyrosine Kinases Milk Proteins DNA-Binding Proteins Nephrology Pediatrics Perinatology and Child Health Trans-Activators Cancer research Female Signal transduction business |
| Zdroj: | Pediatric Nephrology. 20:303-305 |
| ISSN: | 1432-198X 0931-041X |
| DOI: | 10.1007/s00467-004-1678-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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