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Role of Interferon-γ-Producing Th1 Cells in a Murine Model of Type I Interferon-Independent Autoinflammation Resulting From DNase II Deficiency.
Pawaria S, Nündel K, Gao KM, Moses S, Busto P, Holt K, Sharma RB, Brehm MA, Gravallese EM, Socolovsky M, Christ A, Marshak-Rothstein A. Pawaria S, et al. Among authors: sharma rb. Arthritis Rheumatol. 2020 Feb;72(2):359-370. doi: 10.1002/art.41090. Epub 2019 Dec 29. Arthritis Rheumatol. 2020. PMID: 31464028 Free PMC article.
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome.
Grange RMH, Sharma R, Shah H, Reinstadler B, Goldberger O, Cooper MK, Nakagawa A, Miyazaki Y, Hindle AG, Batten AJ, Wojtkiewicz GR, Schleifer G, Bagchi A, Marutani E, Malhotra R, Bloch DB, Ichinose F, Mootha VK, Zapol WM. Grange RMH, et al. Mol Genet Metab. 2021 May;133(1):83-93. doi: 10.1016/j.ymgme.2021.03.005. Epub 2021 Mar 11. Mol Genet Metab. 2021. PMID: 33752971 Free PMC article.
Impaired hypoxic pulmonary vasoconstriction in a mouse model of Leigh syndrome.
Schleifer G, Marutani E, Ferrari M, Sharma R, Skinner O, Goldberger O, Grange RMH, Peneyra K, Malhotra R, Wepler M, Ichinose F, Bloch DB, Mootha VK, Zapol WM. Schleifer G, et al. Am J Physiol Lung Cell Mol Physiol. 2019 Feb 1;316(2):L391-L399. doi: 10.1152/ajplung.00419.2018. Epub 2018 Dec 6. Am J Physiol Lung Cell Mol Physiol. 2019. PMID: 30520688 Free PMC article.
Hepatic NADH reductive stress underlies common variation in metabolic traits.
Goodman RP, Markhard AL, Shah H, Sharma R, Skinner OS, Clish CB, Deik A, Patgiri A, Hsu YH, Masia R, Noh HL, Suk S, Goldberger O, Hirschhorn JN, Yellen G, Kim JK, Mootha VK. Goodman RP, et al. Nature. 2020 Jul;583(7814):122-126. doi: 10.1038/s41586-020-2337-2. Epub 2020 May 27. Nature. 2020. PMID: 32461692 Free PMC article.
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Van Hove JLK, et al. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. eCollection 2024 Jan 1. Hepatol Commun. 2024. PMID: 38180987 Free PMC article.
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome.
Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ; LSFC Consortium; Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C. Thompson Legault J, et al. Cell Rep. 2015 Nov 3;13(5):981-9. doi: 10.1016/j.celrep.2015.09.054. Epub 2015 Oct 22. Cell Rep. 2015. PMID: 26565911 Free PMC article.
Case 8-2022: A 54-Year-Old Woman with Episodes of Swelling.
Banerji A, Phadke NA, Gottumukkala R, Sharma R, Murali MR. Banerji A, et al. N Engl J Med. 2022 Mar 17;386(11):1071-1079. doi: 10.1056/NEJMcpc2027087. N Engl J Med. 2022. PMID: 35294816 No abstract available.
62 results