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 Citations (Scopus)

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
StatePublished - Mar 2005

Fingerprint

STAT5 Transcription Factor
Mutation
Insulin-Like Growth Factor I
Growth Hormone
Genes
Signal Transduction

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

Identification of the first patient with a confirmed mutation of the JAK-STAT system. / Rosenfeld, Ronald (Ron); Kofoed, Eric; Buckway, Caroline; Little, Brian; Woods, Kathryn (Katie); Tsubaki, Junko; Pratt, Katherine A.; Bezrodnik, Liliana; Jasper, Hector; Tepper, Alejandro; Heinrich, Juan J.; Hwa, Vivian.

In: Pediatric Nephrology, Vol. 20, No. 3 SPEC. ISS., 03.2005, p. 303-305.

Research output: Contribution to journalArticle

Rosenfeld, RR, Kofoed, E, Buckway, C, Little, B, Woods, KK, Tsubaki, J, Pratt, KA, Bezrodnik, L, Jasper, H, Tepper, A, Heinrich, JJ & Hwa, V 2005, 'Identification of the first patient with a confirmed mutation of the JAK-STAT system', Pediatric Nephrology, vol. 20, no. 3 SPEC. ISS., pp. 303-305. https://doi.org/10.1007/s00467-004-1678-7
Rosenfeld, Ronald (Ron) ; Kofoed, Eric ; Buckway, Caroline ; Little, Brian ; Woods, Kathryn (Katie) ; Tsubaki, Junko ; Pratt, Katherine A. ; Bezrodnik, Liliana ; Jasper, Hector ; Tepper, Alejandro ; Heinrich, Juan J. ; Hwa, Vivian. / Identification of the first patient with a confirmed mutation of the JAK-STAT system. In: Pediatric Nephrology. 2005 ; Vol. 20, No. 3 SPEC. ISS. pp. 303-305.
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