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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Among authors: selleri l. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC article.
Type 2 autoimmune hepatitis and hepatitis C virus infection.
Lenzi M, Ballardini G, Fusconi M, Cassani F, Selleri L, Volta U, Zauli D, Bianchi FB. Lenzi M, et al. Among authors: selleri l. Lancet. 1990 Feb 3;335(8684):258-9. doi: 10.1016/0140-6736(90)90070-l. Lancet. 1990. PMID: 1967721
B-cell development fails in the absence of the Pbx1 proto-oncogene.
Sanyal M, Tung JW, Karsunky H, Zeng H, Selleri L, Weissman IL, Herzenberg LA, Cleary ML. Sanyal M, et al. Among authors: selleri l. Blood. 2007 May 15;109(10):4191-9. doi: 10.1182/blood-2006-10-054213. Epub 2007 Jan 23. Blood. 2007. PMID: 17244677 Free PMC article.
142 results