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Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
Ishibashi M, Manning E, Shoubridge C, Krecsmarik M, Hawkins TA, Giacomotto J, Zhao T, Mueller T, Bader PI, Cheung SW, Stankiewicz P, Bain NL, Hackett A, Reddy CC, Mechaly AS, Peers B, Wilson SW, Lenhard B, Bally-Cuif L, Gecz J, Becker TS, Rinkwitz S. Ishibashi M, et al. Among authors: lenhard b. Hum Genet. 2015 Nov;134(11-12):1163-82. doi: 10.1007/s00439-015-1594-x. Epub 2015 Sep 4. Hum Genet. 2015. PMID: 26337422
Genomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates.
Kikuta H, Laplante M, Navratilova P, Komisarczuk AZ, Engström PG, Fredman D, Akalin A, Caccamo M, Sealy I, Howe K, Ghislain J, Pezeron G, Mourrain P, Ellingsen S, Oates AC, Thisse C, Thisse B, Foucher I, Adolf B, Geling A, Lenhard B, Becker TS. Kikuta H, et al. Among authors: lenhard b. Genome Res. 2007 May;17(5):545-55. doi: 10.1101/gr.6086307. Epub 2007 Mar 26. Genome Res. 2007. PMID: 17387144 Free PMC article.
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
Ragvin A, Moro E, Fredman D, Navratilova P, Drivenes Ø, Engström PG, Alonso ME, de la Calle Mustienes E, Gómez Skarmeta JL, Tavares MJ, Casares F, Manzanares M, van Heyningen V, Molven A, Njølstad PR, Argenton F, Lenhard B, Becker TS. Ragvin A, et al. Among authors: lenhard b. Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):775-80. doi: 10.1073/pnas.0911591107. Epub 2009 Dec 22. Proc Natl Acad Sci U S A. 2010. PMID: 20080751 Free PMC article.
186 results