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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: schwartz ma. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Conformational response of αIIbβ3 and αVβ3 integrins to force.
Kolasangiani R, Farzanian K, Chen Y, Schwartz MA, Bidone TC. Kolasangiani R, et al. Among authors: schwartz ma. Structure. 2024 Dec 12:S0969-2126(24)00529-X. doi: 10.1016/j.str.2024.11.016. Online ahead of print. Structure. 2024. PMID: 39706199
Polycomb Repressive Complex 2 promotes atherosclerotic plaque vulnerability.
Joshi D, Chakraborty R, Bhogale T, Furtado J, Deng H, Traylor JG Jr, Orr AW, Martin KA, Schwartz MA. Joshi D, et al. Among authors: schwartz ma. bioRxiv [Preprint]. 2024 Dec 2:2024.12.02.626505. doi: 10.1101/2024.12.02.626505. bioRxiv. 2024. PMID: 39703699 Free PMC article. Preprint.
Integrins as Drug Targets in Vascular and Related Diseases.
Meredith E, Schwartz MA. Meredith E, et al. Among authors: schwartz ma. Int J Drug Discov Pharm. 2024 Jun;3(2):100010. doi: 10.53941/ijddp.2024.100010. Epub 2024 Jun 21. Int J Drug Discov Pharm. 2024. PMID: 39703402 Free PMC article.
Epigenetic tuning of PD-1 expression improves exhausted T cell function and viral control.
Weiss SA, Huang AY, Fung ME, Martinez D, Chen ACY, LaSalle TJ, Miller BC, Scharer CD, Hegde M, Nguyen TH, Rowe JH, Osborn JF, Patterson DG, Sifnugel N, Mei-An Nolan C, Davidson RA, Schwartz MA, Bally APR, Neeld DK, LaFleur MW, Boss JM, Doench JG, Nicholas Haining W, Sharpe AH, Sen DR. Weiss SA, et al. Among authors: schwartz ma. Nat Immunol. 2024 Oct;25(10):1871-1883. doi: 10.1038/s41590-024-01961-3. Epub 2024 Sep 17. Nat Immunol. 2024. PMID: 39289557
544 results