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Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.
Yang M, Johnsson P, Bräutigam L, Yang XR, Thrane K, Gao J, Tobin NP, Zhou Y, Yu R, Nagy N, Engström PG, Tuominen R, Eriksson H, Lundeberg J, Tucker MA, Goldstein AM, Egyhazi-Brage S, Zhao J, Cao Y, Höiom V. Yang M, et al. Among authors: nagy n. Genet Med. 2022 Jan;24(1):157-169. doi: 10.1016/j.gim.2021.09.003. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906508 Free PMC article.
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.
Dumanski JP, Halvardson J, Davies H, Rychlicka-Buniowska E, Mattisson J, Moghadam BT, Nagy N, Węglarczyk K, Bukowska-Strakova K, Danielsson M, Olszewski P, Piotrowski A, Oerton E, Ambicka A, Przewoźnik M, Bełch Ł, Grodzicki T, Chłosta PL, Imreh S, Giedraitis V, Kilander L, Nordlund J, Ameur A, Gyllensten U, Johansson Å, Józkowicz A, Siedlar M, Klich-Rączka A, Jaszczyński J, Enroth S, Baran J, Ingelsson M, Perry JRB, Ryś J, Forsberg LA. Dumanski JP, et al. Among authors: nagy n. Cell Mol Life Sci. 2021 Apr;78(8):4019-4033. doi: 10.1007/s00018-021-03822-w. Epub 2021 Apr 10. Cell Mol Life Sci. 2021. PMID: 33837451 Free PMC article.
An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma.
Record J, Sendel A, Kritikou JS, Kuznetsov NV, Brauner H, He M, Nagy N, Oliveira MMS, Griseti E, Haase CB, Dahlström J, Boddul S, Wermeling F, Thrasher AJ, Liu C, Andersson J, Claesson HE, Winqvist O, Burns SO, Björkholm M, Westerberg LS. Record J, et al. Among authors: nagy n. Haematologica. 2020 May;105(5):1339-1350. doi: 10.3324/haematol.2019.216317. Epub 2019 Oct 3. Haematologica. 2020. PMID: 31582539 Free PMC article.
639 results