Publications by authors named "I Proctor"
Article Synopsis
- - The text discusses a gene that negatively regulates cytokine receptor signaling in blood-forming tissues, detailing its link to a rare genetic condition characterized by early developmental delays and autoimmune issues, having been observed in multiple related families.
- - Two additional families with similar genetic deficiencies were identified, showing symptoms like myeloproliferation and autoimmunity, with one case presenting severe blood clotting complications.
- - Using CRISPR-Cas9 gene editing in zebrafish, researchers replicated aspects of the human condition and demonstrated that a specific drug could mitigate these symptoms, supporting the idea that the identified gene variants are linked to a significant health condition.
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