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A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC. Stojkic I, et al. Among authors: gil silva aa. Clin Immunol. 2024 May 9;264:110244. doi: 10.1016/j.clim.2024.110244. Online ahead of print. Clin Immunol. 2024. PMID: 38734037 Free article.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: gil silva aa. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 Free PMC article.
Rapid postmortem ventilation improves donor lung viability by extending the tolerable warm ischemic time after cardiac death in mice.
Yu J, Xu C, Lee JS, Alder JK, Wen Z, Wang G, Gil Silva AA, Sanchez PG, Pilewski JM, McDyer JF, Wang X. Yu J, et al. Among authors: gil silva aa. Am J Physiol Lung Cell Mol Physiol. 2021 Oct 1;321(4):L653-L662. doi: 10.1152/ajplung.00011.2021. Epub 2021 Jul 28. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 34318693 Free article.