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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). Rodan LH, et al. Among authors: qi w. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15. Mol Genet Metab. 2018. PMID: 30031689 Free PMC article.
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Haskovic M, et al. Among authors: qi w. Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8. Orphanet J Rare Dis. 2018. PMID: 30477550 Free PMC article.
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
O'Connell AE, Raveenthiraraj S, Oliveira LFS, Adegboye C, Dasuri VS, Qi W, Khetani RS, Singh A, Sundaram N, Lin J, Nandivada P, Rincón-Cruz L, Goldsmith JD, Thiagarajah JR, Carlone DL, Turner JR, Agrawal PB, Helmrath M, Breault DT. O'Connell AE, et al. Among authors: qi w. Cell Mol Gastroenterol Hepatol. 2024 Apr 30:S2352-345X(24)00100-0. doi: 10.1016/j.jcmgh.2024.04.006. Online ahead of print. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38697357 Free article.
Emerging enterococcus pore-forming toxins with MHC/HLA-I as receptors.
Xiong X, Tian S, Yang P, Lebreton F, Bao H, Sheng K, Yin L, Chen P, Zhang J, Qi W, Ruan J, Wu H, Chen H, Breault DT, Wu H, Earl AM, Gilmore MS, Abraham J, Dong M. Xiong X, et al. Among authors: qi w. Cell. 2022 Mar 31;185(7):1157-1171.e22. doi: 10.1016/j.cell.2022.02.002. Epub 2022 Mar 7. Cell. 2022. PMID: 35259335 Free PMC article.
3,360 results