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Loss of mouse Stmn2 function causes motor neuropathy.
San Juan IG, Nash LA, Smith KS, Leyton-Jaimes MF, Qian M, Klim JR, Limone F, Dorr AB, Couto A, Pintacuda G, Joseph BJ, Whisenant DE, Noble C, Melnik V, Potter D, Holmes A, Burberry A, Verhage M, Eggan K. San Juan IG, et al. Among authors: eggan k. Neuron. 2022 Dec 7;110(23):4031. doi: 10.1016/j.neuron.2022.11.003. Neuron. 2022. PMID: 36480942 Free article. No abstract available.
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia.
Hsu YH, Pintacuda G, Liu R, Nacu E, Kim A, Tsafou K, Petrossian N, Crotty W, Suh JM, Riseman J, Martin JM, Biagini JC, Mena D, Ching JKT, Malolepsza E, Li T, Singh T, Ge T, Egri SB, Tanenbaum B, Stanclift CR, Apffel AM; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stanley Global Asia Initiatives; Carr SA, Schenone M, Jaffe J, Fornelos N, Huang H, Eggan KC, Lage K. Hsu YH, et al. Among authors: eggan kc. iScience. 2023 Apr 18;26(5):106701. doi: 10.1016/j.isci.2023.106701. eCollection 2023 May 19. iScience. 2023. PMID: 37207277 Free PMC article.
CSMD1 regulates brain complement activity and circuit development.
Baum ML, Wilton DK, Fox RG, Carey A, Hsu YH, Hu R, Jäntti HJ, Fahey JB, Muthukumar AK, Salla N, Crotty W, Scott-Hewitt N, Bien E, Sabatini DA, Lanser TB, Frouin A, Gergits F, Håvik B, Gialeli C, Nacu E, Lage K, Blom AM, Eggan K, McCarroll SA, Johnson MB, Stevens B. Baum ML, et al. Among authors: eggan k. Brain Behav Immun. 2024 Mar 27;119:317-332. doi: 10.1016/j.bbi.2024.03.041. Online ahead of print. Brain Behav Immun. 2024. PMID: 38552925 Free article.
Myeloid and lymphoid expression of C9orf72 regulates IL-17A signaling in mice.
Limone F, Couto A, Wang JY, Zhang Y, McCourt B, Huang C, Minkin A, Jani M, McNeer S, Keaney J, Gillet G, Gonzalez RL, Goodman WA, Kadiu I, Eggan K, Burberry A. Limone F, et al. Among authors: eggan k. Sci Transl Med. 2024 Jan 31;16(732):eadg7895. doi: 10.1126/scitranslmed.adg7895. Epub 2024 Jan 31. Sci Transl Med. 2024. PMID: 38295187
High-dimensional phenotyping to define the genetic basis of cellular morphology.
Tegtmeyer M, Arora J, Asgari S, Cimini BA, Nadig A, Peirent E, Liyanage D, Way GP, Weisbart E, Nathan A, Amariuta T, Eggan K, Haghighi M, McCarroll SA, O'Connor L, Carpenter AE, Singh S, Nehme R, Raychaudhuri S. Tegtmeyer M, et al. Among authors: eggan k. Nat Commun. 2024 Jan 6;15(1):347. doi: 10.1038/s41467-023-44045-w. Nat Commun. 2024. PMID: 38184653 Free PMC article.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Among authors: eggan k. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
Econazole selectively induces cell death in NF1-homozygous mutant tumor cells.
Lakes YB, Moye SL, Mo J, Tegtmeyer M, Nehme R, Charlton M, Salinas G, McKay RM, Eggan K, Le LQ. Lakes YB, et al. Among authors: eggan k. Cell Rep Med. 2023 Dec 19;4(12):101309. doi: 10.1016/j.xcrm.2023.101309. Epub 2023 Dec 11. Cell Rep Med. 2023. PMID: 38086379 Free PMC article.
Exposure of iPSC-derived human microglia to brain substrates enables the generation and manipulation of diverse transcriptional states in vitro.
Dolan MJ, Therrien M, Jereb S, Kamath T, Gazestani V, Atkeson T, Marsh SE, Goeva A, Lojek NM, Murphy S, White CM, Joung J, Liu B, Limone F, Eggan K, Hacohen N, Bernstein BE, Glass CK, Leinonen V, Blurton-Jones M, Zhang F, Epstein CB, Macosko EZ, Stevens B. Dolan MJ, et al. Among authors: eggan k. Nat Immunol. 2023 Aug;24(8):1382-1390. doi: 10.1038/s41590-023-01558-2. Epub 2023 Jul 27. Nat Immunol. 2023. PMID: 37500887 Free PMC article.
Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.
Pintacuda G, Hsu YH, Tsafou K, Li KW, Martín JM, Riseman J, Biagini JC, Ching JKT, Mena D, Gonzalez-Lozano MA, Egri SB, Jaffe J, Smit AB, Fornelos N, Eggan KC, Lage K. Pintacuda G, et al. Among authors: eggan kc. Cell Genom. 2023 Jan 24;3(3):100250. doi: 10.1016/j.xgen.2022.100250. eCollection 2023 Mar 8. Cell Genom. 2023. PMID: 36950384 Free PMC article.
162 results