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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.
Afadin-nectin forces its way to the front.
Sebbagh M, Schwartz MA. Sebbagh M, et al. Among authors: schwartz ma. J Cell Biol. 2024 May 6;223(5):e202403177. doi: 10.1083/jcb.202403177. Epub 2024 Apr 2. J Cell Biol. 2024. PMID: 38563860 Free article.
Framework for in vivo T cell screens.
Milling LE, Markson SC, Tjokrosurjo Q, Derosia NM, Streeter ISL, Hickok GH, Lemmen AM, Nguyen TH, Prathima P, Fithian W, Schwartz MA, Hacohen N, Doench JG, LaFleur MW, Sharpe AH. Milling LE, et al. Among authors: schwartz ma. J Exp Med. 2024 Apr 1;221(4):e20230699. doi: 10.1084/jem.20230699. Epub 2024 Feb 27. J Exp Med. 2024. PMID: 38411617
Mechanosensing through talin 1 contributes to tissue mechanical homeostasis.
Chanduri MVL, Kumar A, Weiss D, Emuna N, Barsukov I, Shi M, Tanaka K, Wang X, Datye A, Kanyo J, Collin F, Lam T, Schwarz UD, Bai S, Nottoli T, Goult BT, Humphrey JD, Schwartz MA. Chanduri MVL, et al. Among authors: schwartz ma. bioRxiv [Preprint]. 2024 Jan 26:2023.09.03.556084. doi: 10.1101/2023.09.03.556084. bioRxiv. 2024. PMID: 38328095 Free PMC article. Preprint.
Calcium flow at ER-TGN contact sites facilitates secretory cargo export.
Ramazanov BR, Parchure A, Di Martino R, Kumar A, Chung M, Kim Y, Griesbeck O, Schwartz MA, Luini A, von Blume J. Ramazanov BR, et al. Among authors: schwartz ma. Mol Biol Cell. 2024 Apr 1;35(4):ar50. doi: 10.1091/mbc.E23-03-0099. Epub 2024 Jan 31. Mol Biol Cell. 2024. PMID: 38294859
525 results