Publications by authors named "M Waterfield"

Article Synopsis
  • The autoimmune regulator (Aire) was first identified over 20 years ago, playing a crucial role in central immune tolerance and thymic self-representation, and recent advancements in single-cell genomics are revealing new insights about its biology.
  • The text discusses how human genetics helped discover Aire and how various patient data related to Aire mutations sheds light on its link to autoimmune diseases and implications for health.
  • It also highlights three key areas of emerging research: the diversity of medullary thymic epithelial cells and Aire's role in their development, the molecular mechanisms of Aire and its partners, and the identification and function of extrathymic Aire-expressing cells, including a new type called Janus cells, crucial for maintaining immune
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Mutations in the gene encoding the zinc-finger transcription factor Ikaros () are found in patients with immunodeficiency, leukemia, and autoimmunity. Although Ikaros has a well-established function in modulating gene expression programs important for hematopoietic development, its role in other cell types is less well defined. Here, we uncover functions for Ikaros in thymic epithelial lineage development in mice and show that expression in medullary thymic epithelial cells (mTECs) is required for both autoimmune regulator-positive (Aire) mTEC development and tissue-specific antigen (TSA) gene expression.

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Background: Eight human catalytic phosphoinositide 3-kinase (PI3K) isoforms exist which are subdivided into three classes. While class I isoforms have been well-studied in cancer, little is known about the functions of class II PI3Ks.

Materials And Methods: The expression pattern and functions of the class II PI3KC2β isoform were investigated in a panel of tumour samples and cell lines.

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CD8 T cells are critical for the immune response to pathogens and tumors, and CD8 T cell memory protects against repeat infections. In this study, we identify the activating transcription factor 7 interacting protein (ATF7ip) as a critical regulator of CD8 T cell immune responses. Mice with a T cell-specific deletion of ATF7ip have a CD8 T cell-intrinsic enhancement of expression and expression leading to enhanced effector and memory responses.

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