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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Among authors: choi jh. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5.
Zhang D, Tomisato W, Su L, Sun L, Choi JH, Zhang Z, Wang KW, Zhan X, Choi M, Li X, Tang M, Castro-Perez JM, Hildebrand S, Murray AR, Moresco EMY, Beutler B. Zhang D, et al. Among authors: choi m, choi jh. Proc Natl Acad Sci U S A. 2017 Jun 27;114(26):E5197-E5206. doi: 10.1073/pnas.1705312114. Epub 2017 Jun 12. Proc Natl Acad Sci U S A. 2017. PMID: 28607088 Free PMC article.
Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function.
McAlpine W, Sun L, Wang KW, Liu A, Jain R, San Miguel M, Wang J, Zhang Z, Hayse B, McAlpine SG, Choi JH, Zhong X, Ludwig S, Russell J, Zhan X, Choi M, Li X, Tang M, Moresco EMY, Beutler B, Turer E. McAlpine W, et al. Among authors: choi m, choi jh. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):E11523-E11531. doi: 10.1073/pnas.1814753115. Epub 2018 Nov 15. Proc Natl Acad Sci U S A. 2018. PMID: 30442666 Free PMC article.
Dominant atopy risk mutations identified by mouse forward genetic analysis.
SoRelle JA, Chen Z, Wang J, Yue T, Choi JH, Wang KW, Zhong X, Hildebrand S, Russell J, Scott L, Xu D, Zhan X, Bu CH, Wang T, Choi M, Tang M, Ludwig S, Zhan X, Li X, Moresco EMY, Beutler B. SoRelle JA, et al. Among authors: choi m, choi jh. Allergy. 2021 Apr;76(4):1095-1108. doi: 10.1111/all.14564. Epub 2020 Sep 20. Allergy. 2021. PMID: 32810290 Free PMC article.
RNPS1 inhibits excessive tumor necrosis factor/tumor necrosis factor receptor signaling to support hematopoiesis in mice.
Zhong X, Choi JH, Hildebrand S, Ludwig S, Wang J, Nair-Gill E, Liao TC, Moresco JJ, Liu A, Quan J, Sun Q, Zhang D, Zhan X, Choi M, Li X, Wang J, Gallagher T, Moresco EMY, Beutler B. Zhong X, et al. Among authors: choi m, choi jh. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2200128119. doi: 10.1073/pnas.2200128119. Epub 2022 Apr 28. Proc Natl Acad Sci U S A. 2022. PMID: 35482923 Free PMC article.
6,815 results