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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. Ashraf S, et al. Among authors: choi m. J Clin Invest. 2013 Dec;123(12):5179-89. doi: 10.1172/JCI69000. Epub 2013 Nov 25. J Clin Invest. 2013. PMID: 24270420 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. Among authors: choi m, choi j. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. J Clin Invest. 2017. PMID: 28375157 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. Among authors: choi m, choi j. J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1. J Clin Invest. 2017. PMID: 28862642 Free PMC article.
Neutral or detrimental effects of TREM2 agonist antibodies in preclinical models of Alzheimer's Disease and Multiple Sclerosis.
Etxeberria A, Shen YA, Vito S, Silverman S, Imperio J, Lalehzadeh G, Soung A, Du C, Xie L, Choy MK, Hsiao YC, Ngu H, Cho CH, Ghosh S, Novikova G, Rezzonico MG, Leahey R, Weber M, Gogineni A, Elstrott J, Xiong M, Greene JJ, Stark KL, Chan P, Roth GA, Adrian M, Li Q, Choi M, Wong WR, Sandoval W, Foreman O, Nugent AA, Friedman BA, Sadekar S, Hötzel I, Hansen DV, Chih B, Yuen TJ, Weimer RM, Easton A, Meilandt WJ, Bohlen CJ. Etxeberria A, et al. Among authors: choi m. J Neurosci. 2024 Jun 3:e2347232024. doi: 10.1523/JNEUROSCI.2347-23.2024. Online ahead of print. J Neurosci. 2024. PMID: 38830764
8,582 results