Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-019-0380-y.pdf
Reference22 articles.
1. Meyers EA, Kessler JA. TGF-β family signaling in neural and neuronal differentiation, development, and function. Cold Spring Harb Perspect Biol. 2017;9:a022244.
2. Metelli A, Salem M, Wallace CH, Wu BX, Li A, Li X, et al. Immunoregulatory functions and the therapeutic implications of GARP-TGF-β in inflammation and cancer. J Hematol Oncol. 2018;11:24.
3. Rachidi S, Metelli A, Riesenberg B, Wu BX, Nelson MH, Wallace C, et al. Platelets subvert T cell immunity against cancer via GARP-TGFβ axis. Sci Immunol. 2017;2:eaai7911.
4. Wallace CH, Wu BX, Salem M, Ansa-Addo EA, Metelli A, Sun S, et al. B lymphocytes confer immune tolerance via cell surface GARP-TGF-β complex. JCI Insight 2018;3;e99863.
5. Fridrich S, Hahn SA, Linzmaier M, Felten M, Zwarg J, Lennerz V, et al. How soluble GARP enhances TGFβ activation. PLoS ONE. 2016;11:e0153290.
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