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GPR161 structure uncovers the redundant role of sterol-regulated ciliary cAMP signaling in the Hedgehog pathway.
Hoppe N, Harrison S, Hwang SH, Chen Z, Karelina M, Deshpande I, Suomivuori CM, Palicharla VR, Berry SP, Tschaikner P, Regele D, Covey DF, Stefan E, Marks DS, Reiter J, Dror RO, Evers AS, Mukhopadhyay S, Manglik A. Hoppe N, et al. Among authors: marks ds. bioRxiv [Preprint]. 2023 May 24:2023.05.23.540554. doi: 10.1101/2023.05.23.540554. bioRxiv. 2023. Update in: Nat Struct Mol Biol. 2024 Apr;31(4):667-677. doi: 10.1038/s41594-024-01223-8 PMID: 37292845 Free PMC article. Updated. Preprint.
Pathway and network analysis of cancer genomes.
Creixell P, Reimand J, Haider S, Wu G, Shibata T, Vazquez M, Mustonen V, Gonzalez-Perez A, Pearson J, Sander C, Raphael BJ, Marks DS, Ouellette BFF, Valencia A, Bader GD, Boutros PC, Stuart JM, Linding R, Lopez-Bigas N, Stein LD; Mutation Consequences and Pathway Analysis Working Group of the International Cancer Genome Consortium. Creixell P, et al. Among authors: marks ds. Nat Methods. 2015 Jul;12(7):615-621. doi: 10.1038/nmeth.3440. Nat Methods. 2015. PMID: 26125594 Free PMC article.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson KR, Reed X, Johnson NL, Kollasch AW, Duffy MF, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Marks DS, Yokoyama JS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: marks ds. Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. Epub 2024 Jun 26. Alzheimers Dement. 2024. PMID: 38923692 Free PMC article.
Guidelines for releasing a variant effect predictor.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Livesey BJ, et al. Among authors: marks ds. ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1. ArXiv. 2024. PMID: 38699161 Free PMC article. Preprint.
161 results