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Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
Kamihara J, Hamilton KV, Pollard JA, Clinton CM, Madden JA, Lin J, Imamovic A, Wall CB, Wassner AJ, Weil BR, Heeney MM, Vargas SO, Kaelin WG Jr, Janeway KA, Perini RF, Zojwalla NJ, Voss SD, DuBois SG. Kamihara J, et al. Among authors: lin j. N Engl J Med. 2021 Nov 25;385(22):2059-2065. doi: 10.1056/NEJMoa2110051. N Engl J Med. 2021. PMID: 34818480 Free PMC article.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: lin j. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
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: lin j. Cell Mol Gastroenterol Hepatol. 2024;18(2):101349. doi: 10.1016/j.jcmgh.2024.04.006. Epub 2024 Apr 30. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38697357 Free PMC article.
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Li Q, et al. Among authors: lin j. J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):1003-1015. doi: 10.1002/jcsm.13470. Epub 2024 May 9. J Cachexia Sarcopenia Muscle. 2024. PMID: 38725372 Free PMC article.
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