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Article

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

Pediatric nephrology (Berlin, Germany) - 1 Mar 2005

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

Abstract excerpt

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.

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Source

Identifiers

PMID: 15688233
DOI: 10.1007/s00467-004-1678-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Goldilocks Principle of JAKs and STATs: Gain-of function mutations, loss-of-function mutations, and their clinical consequencesSemantic proximity Read ↗

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