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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: fathalla r. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
From Celecoxib to a Novel Class of Phosphodiesterase 5 Inhibitors: Trisubstituted Pyrazolines as Novel Phosphodiesterase 5 Inhibitors with Extremely High Potency and Phosphodiesterase Isozyme Selectivity.
Abdel-Halim M, Sigler S, Racheed NAS, Hefnawy A, Fathalla RK, Hammam MA, Maher A, Maxuitenko Y, Keeton AB, Hartmann RW, Engel M, Piazza GA, Abadi AH. Abdel-Halim M, et al. Among authors: fathalla rk. J Med Chem. 2021 Apr 22;64(8):4462-4477. doi: 10.1021/acs.jmedchem.0c01120. Epub 2021 Apr 1. J Med Chem. 2021. PMID: 33793216
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