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A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma.
Everman JL, Sajuthi SP, Liegeois MA, Jackson ND, Collet EH, Peters MC, Chioccioli M, Moore CM, Patel BB, Dyjack N, Powell R, Rios C, Montgomery MT, Eng C, Elhawary JR, Mak ACY, Hu D, Huntsman S, Salazar S, Feriani L, Fairbanks-Mahnke A, Zinnen GL, Michel CR, Gomez J, Zhang X, Medina V, Chu HW, Cicuta P, Gordon ED, Zeitlin P, Ortega VE, Reisdorph N, Dunican EM, Tang M, Elicker BM, Henry TS, Bleecker ER, Castro M, Erzurum SC, Israel E, Levy BD, Mauger DT, Meyers DA, Sumino K, Gierada DS, Hastie AT, Moore WC, Denlinger LC, Jarjour NN, Schiebler ML, Wenzel SE, Woodruff PG, Rodriguez-Santana J, Pearson CG, Burchard EG, Fahy JV, Seibold MA. Everman JL, et al. Nat Commun. 2024 May 9;15(1):3900. doi: 10.1038/s41467-024-48034-5. Nat Commun. 2024. PMID: 38724552 Free PMC article.
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Van Hove JLK, Friederich MW, Hock DH, Stroud DA, Caruana NJ, Christians U, Schniedewind B, Michel CR, Reisdorph R, Lopez Gonzalez EDJ, Brenner C, Donovan TE, Lee JC, Chatfield KC, Larson AA, Baker PR 2nd, McCandless SE, Moore Burk MF. Van Hove JLK, et al. Mitochondrion. 2024 Sep;78:101905. doi: 10.1016/j.mito.2024.101905. Epub 2024 May 24. Mitochondrion. 2024. PMID: 38797357
Salmon Food-Specific Compounds and Their Metabolites Increase in Human Plasma and Are Associated with Cardiometabolic Health Indicators Following a Mediterranean-Style Diet Intervention.
Hill EB, Reisdorph RM, Rasolofomanana-Rajery S, Michel C, Khajeh-Sharafabadi M, Doenges KA, Weaver N, Quinn K, Sutliff AK, Tang M, Borengasser SJ, Frank DN, O'Connor LE, Campbell WW, Krebs NF, Hendricks AE, Reisdorph NA. Hill EB, et al. J Nutr. 2024 Jan;154(1):26-40. doi: 10.1016/j.tjnut.2023.10.024. Epub 2023 Oct 31. J Nutr. 2024. PMID: 37918675 Free PMC article. Clinical Trial.
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. Starosta RT, et al. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. Mitochondrion. 2024. PMID: 39413893