Cancer Institute A national cancer institute
designated cancer center

Caroline Buckway

Publication Details

  • Identification of the first patient with a confirmed mutation of the JAK-STAT system PEDIATRIC NEPHROLOGY Rosenfeld, R. G., Kofoed, E., Buckway, C., Little, B., Woods, K. A., Tsubaki, J., Pratt, K. A., Bezrodnik, L., Jasper, H., Tepper, A., Heinrich, J. J., Hwa, V. 2005; 20 (3): 303-305


    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.

    View details for DOI 10.1007/s00467-004-1678-7

    View details for Web of Science ID 000227713600009

    View details for PubMedID 15688233

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