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Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL. Lachke SA, et al. Among authors: bulyk ml. Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970. Science. 2011. PMID: 21436445 Free PMC article.
Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.
Lambourne L, Mattioli K, Santoso C, Sheynkman G, Inukai S, Kaundal B, Berenson A, Spirohn-Fitzgerald K, Bhattacharjee A, Rothman E, Shrestha S, Laval F, Yang Z, Bisht D, Sewell JA, Li G, Prasad A, Phanor S, Lane R, Campbell DM, Hunt T, Balcha D, Gebbia M, Twizere JC, Hao T, Frankish A, Riback JA, Salomonis N, Calderwood MA, Hill DE, Sahni N, Vidal M, Bulyk ML, Fuxman Bass JI. Lambourne L, et al. Among authors: bulyk ml. bioRxiv [Preprint]. 2024 Apr 10:2024.03.12.584681. doi: 10.1101/2024.03.12.584681. bioRxiv. 2024. Update in: Mol Cell. 2025 Apr 03;85(7):1445-1466.e13. doi: 10.1016/j.molcel.2025.03.004. PMID: 38617209 Free PMC article. Updated. Preprint.
iSyTE: integrated Systems Tool for Eye gene discovery.
Lachke SA, Ho JW, Kryukov GV, O'Connell DJ, Aboukhalil A, Bulyk ML, Park PJ, Maas RL. Lachke SA, et al. Among authors: bulyk ml. Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1617-27. doi: 10.1167/iovs.11-8839. Print 2012 Mar. Invest Ophthalmol Vis Sci. 2012. PMID: 22323457 Free PMC article.
151 results