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134 results

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Page 1
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.
Clatot J, Currin CB, Liang Q, Pipatpolkai T, Massey SL, Helbig I, Delemotte L, Vogels TP, Covarrubias M, Goldberg EM. Clatot J, et al. Among authors: covarrubias m. Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2307776121. doi: 10.1073/pnas.2307776121. Epub 2024 Jan 9. Proc Natl Acad Sci U S A. 2024. PMID: 38194456 Free PMC article.
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Feng H, Clatot J, Kaneko K, Flores-Mendez M, Wengert ER, Koutcher C, Hoddeson E, Lopez E, Lee D, Arias L, Liang Q, Zhang X, Somarowthu A, Covarrubias M, Gunthorpe MJ, Large CH, Akizu N, Goldberg EM. Feng H, et al. Among authors: covarrubias m. Cell Rep Med. 2024 Feb 20;5(2):101389. doi: 10.1016/j.xcrm.2023.101389. Epub 2024 Jan 23. Cell Rep Med. 2024. PMID: 38266642 Free PMC article.
Enteroendocrine cell regulation of the gut-brain axis.
Barton JR, Londregan AK, Alexander TD, Entezari AA, Covarrubias M, Waldman SA. Barton JR, et al. Among authors: covarrubias m. Front Neurosci. 2023 Nov 7;17:1272955. doi: 10.3389/fnins.2023.1272955. eCollection 2023. Front Neurosci. 2023. PMID: 38027512 Free PMC article. Review.
Intestinal neuropod cell GUCY2C regulates visceral pain.
Barton JR, Londregan AK, Alexander TD, Entezari AA, Bar-Ad S, Cheng L, Lepore AC, Snook AE, Covarrubias M, Waldman SA. Barton JR, et al. Among authors: covarrubias m. J Clin Invest. 2023 Feb 15;133(4):e165578. doi: 10.1172/JCI165578. J Clin Invest. 2023. PMID: 36548082 Free PMC article.
The binding and mechanism of a positive allosteric modulator of Kv3 channels.
Liang Q, Chi G, Cirqueira L, Zhi L, Marasco A, Pilati N, Gunthorpe MJ, Alvaro G, Large CH, Sauer DB, Treptow W, Covarrubias M. Liang Q, et al. Among authors: covarrubias m. Nat Commun. 2024 Mar 21;15(1):2533. doi: 10.1038/s41467-024-46813-8. Nat Commun. 2024. PMID: 38514618 Free PMC article.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: covarrubias m. Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. Nature. 2024. PMID: 38225470 No abstract available.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Among authors: covarrubias m. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
134 results