title: Identification of the first patient with a confirmed mutation of the JAK-STAT system.
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.
authors.affiliation: Lucile Packard Foundation for Children's Health, 770 Welch Road, Suite 350, Palo Alto, CA 94304, USA. ron.rosenfeld@lpfch.org
authors.forename: Ron G
authors.initials: RG
authors.lastname: Rosenfeld
authors.forename: Eric
authors.initials: E
authors.lastname: Kofoed
authors.forename: Caroline
authors.initials: C
authors.lastname: Buckway
authors.forename: Brian
authors.initials: B
authors.lastname: Little
authors.forename: Katie A
authors.initials: KA
authors.lastname: Woods
authors.forename: Junko
authors.initials: J
authors.lastname: Tsubaki
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Pratt
authors.forename: Liliana
authors.initials: L
authors.lastname: Bezrodnik
authors.forename: Hector
authors.initials: H
authors.lastname: Jasper
authors.forename: Alejandro
authors.initials: A
authors.lastname: Tepper
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Heinrich
authors.forename: Vivian
authors.initials: V
authors.lastname: Hwa
mesh_terms: D000293:Adolescent; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D053614:Janus Kinase 2; D008894:Milk Proteins / Q000235:genetics*; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D050799:STAT5 Transcription Factor; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D008894:Milk Proteins; D011518:Proto-Oncogene Proteins; D050799:STAT5 Transcription Factor; C494095:STAT5B protein, human; D015534:Trans-Activators; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2