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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Vitobello A, et al. Among authors: kozlov sv. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. Am J Hum Genet. 2022. PMID: 35907405 Free PMC article.
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. De Sandre-Giovannoli A, et al. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17. Am J Hum Genet. 2002. PMID: 11799477 Free PMC article.
The imprinted gene Magel2 regulates normal circadian output.
Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL. Kozlov SV, et al. Nat Genet. 2007 Oct;39(10):1266-72. doi: 10.1038/ng2114. Epub 2007 Sep 23. Nat Genet. 2007. PMID: 17893678
Temporal molecular and biological assessment of an erlotinib-resistant lung adenocarcinoma model reveals markers of tumor progression and treatment response.
Weaver Z, Difilippantonio S, Carretero J, Martin PL, El Meskini R, Iacovelli AJ, Gumprecht M, Kulaga A, Guerin T, Schlomer J, Baran M, Kozlov S, McCann T, Mena S, Al-Shahrour F, Alexander D, Wong KK, Van Dyke T. Weaver Z, et al. Cancer Res. 2012 Nov 15;72(22):5921-33. doi: 10.1158/0008-5472.CAN-12-0736. Epub 2012 Sep 11. Cancer Res. 2012. PMID: 22969147 Free PMC article.
142 results