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

Ronald (Ron) Rosenfeld, Eric Kofoed, Caroline Buckway, Brian Little, Kathryn (Katie) Woods, Junko Tsubaki, Katherine A. Pratt, Liliana Bezrodnik, Hector Jasper, Alejandro Tepper, Juan J. Heinrich, Vivian Hwa

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)303-305
Number of pages3
JournalPediatric Nephrology
Volume20
Issue number3 SPEC. ISS.
DOIs
Publication statusPublished - Mar 2005

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Keywords

  • GH
  • Growth
  • IGF
  • STAT5b

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

Rosenfeld, R. R., Kofoed, E., Buckway, C., Little, B., Woods, K. K., Tsubaki, J., ... Hwa, V. (2005). Identification of the first patient with a confirmed mutation of the JAK-STAT system. Pediatric Nephrology, 20(3 SPEC. ISS.), 303-305. https://doi.org/10.1007/s00467-004-1678-7