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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: beutler b. 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: beutler b. 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.
Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development.
Choi JH, Zhong X, Zhang Z, Su L, McAlpine W, Misawa T, Liao TC, Zhan X, Russell J, Ludwig S, Li X, Tang M, Anderton P, Moresco EMY, Beutler B. Choi JH, et al. Among authors: beutler b. J Exp Med. 2020 Apr 6;217(4):e20190006. doi: 10.1084/jem.20190006. J Exp Med. 2020. PMID: 31985756 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: beutler b. Allergy. 2021 Apr;76(4):1095-1108. doi: 10.1111/all.14564. Epub 2020 Sep 20. Allergy. 2021. PMID: 32810290 Free PMC article.
Essential requirement for IER3IP1 in B cell development.
Zhong X, Moresco JJ, Keller K, Lazaro DR, Ely C, Moresco EMY, Beutler B, Choi JH. Zhong X, et al. Among authors: beutler b. Proc Natl Acad Sci U S A. 2023 Nov 14;120(46):e2312810120. doi: 10.1073/pnas.2312810120. Epub 2023 Nov 7. Proc Natl Acad Sci U S A. 2023. PMID: 37934820 Free PMC article.
OVOL2 sustains postnatal thymic epithelial cell identity.
Zhong X, Peddada N, Wang J, Moresco JJ, Zhan X, Shelton JM, SoRelle JA, Keller K, Lazaro DR, Moresco EMY, Choi JH, Beutler B. Zhong X, et al. Among authors: beutler b. Nat Commun. 2023 Nov 27;14(1):7786. doi: 10.1038/s41467-023-43456-z. Nat Commun. 2023. PMID: 38012144 Free PMC article.
515 results