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CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.
Halperin D, Stavsky A, Kadir R, Drabkin M, Wormser O, Yogev Y, Dolgin V, Proskorovski-Ohayon R, Perez Y, Nudelman H, Stoler O, Rotblat B, Lifschytz T, Lotan A, Meiri G, Gitler D, Birk OS. Halperin D, et al. Among authors: rotblat b. Nat Commun. 2021 Oct 26;12(1):6187. doi: 10.1038/s41467-021-26426-1. Nat Commun. 2021. PMID: 34702855 Free PMC article.
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: rotblat b. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055
mTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism.
Levy T, Voeltzke K, Hruby L, Alasad K, Bas Z, Snaebjörnsson M, Marciano R, Scharov K, Planque M, Vriens K, Christen S, Funk CM, Hassiepen C, Kahler A, Heider B, Picard D, Lim JKM, Stefanski A, Bendrin K, Vargas-Toscano A, Kahlert UD, Stühler K, Remke M, Elkabets M, Grünewald TGP, Reichert AS, Fendt SM, Schulze A, Reifenberger G, Rotblat B, Leprivier G. Levy T, et al. Among authors: rotblat b. Nat Commun. 2024 May 14;15(1):4083. doi: 10.1038/s41467-024-48386-y. Nat Commun. 2024. PMID: 38744825 Free PMC article.
Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes.
Musa J, Cidre-Aranaz F, Aynaud MM, Orth MF, Knott MML, Mirabeau O, Mazor G, Varon M, Hölting TLB, Grossetête S, Gartlgruber M, Surdez D, Gerke JS, Ohmura S, Marchetto A, Dallmayer M, Baldauf MC, Stein S, Sannino G, Li J, Romero-Pérez L, Westermann F, Hartmann W, Dirksen U, Gymrek M, Anderson ND, Shlien A, Rotblat B, Kirchner T, Delattre O, Grünewald TGP. Musa J, et al. Among authors: rotblat b. Nat Commun. 2019 Sep 11;10(1):4128. doi: 10.1038/s41467-019-12071-2. Nat Commun. 2019. PMID: 31511524 Free PMC article.
The HHIP-AS1 lncRNA promotes tumorigenicity through stabilization of dynein complex 1 in human SHH-driven tumors.
Bartl J, Zanini M, Bernardi F, Forget A, Blümel L, Talbot J, Picard D, Qin N, Cancila G, Gao Q, Nath S, Koumba IM, Wolter M, Kuonen F, Langini M, Beez T, Munoz C, Pauck D, Marquardt V, Yu H, Souphron J, Korsch M, Mölders C, Berger D, Göbbels S, Meyer FD, Scheffler B, Rotblat B, Diederichs S, Ramaswamy V, Suzuki H, Oro A, Stühler K, Stefanski A, Fischer U, Leprivier G, Willbold D, Steger G, Buell A, Kool M, Lichter P, Pfister SM, Northcott PA, Taylor MD, Borkhardt A, Reifenberger G, Ayrault O, Remke M. Bartl J, et al. Among authors: rotblat b. Nat Commun. 2022 Jul 13;13(1):4061. doi: 10.1038/s41467-022-31574-z. Nat Commun. 2022. PMID: 35831316 Free PMC article.
61 results