Identification of the first patient with a confirmed mutation of the JAK-STAT system

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...

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Veröffentlicht in:	Pediatric nephrology (Berlin, West) West), 2005-03, Vol.20 (3), p.303-305
Hauptverfasser:	Rosenfeld, Ron G, Kofoed, Eric, Buckway, Caroline, Little, Brian, Woods, Katie A, Tsubaki, Junko, Pratt, Katherine A, Bezrodnik, Liliana, Jasper, Hector, Tepper, Alejandro, Heinrich, Juan J, Hwa, Vivian
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Case studies Cell metabolism Complications and side effects Diagnosis DNA-Binding Proteins - genetics Female Gene mutations Genetic aspects Humans Janus Kinase 2 Metabolic diseases Milk Proteins - genetics Mutation Protein-Tyrosine Kinases - genetics Proto-Oncogene Proteins - genetics STAT5 Transcription Factor Trans-Activators - genetics
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Zusammenfassung:	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.
ISSN:	0931-041X 1432-198X
DOI:	10.1007/s00467-004-1678-7