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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Martí-Massó JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Pérez-Tur J, López de Munain A. Morante-Redolat JM, et al. Among authors: gesk s. Hum Mol Genet. 2002 May 1;11(9):1119-28. doi: 10.1093/hmg/11.9.1119. Hum Mol Genet. 2002. PMID: 11978770
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Sarafidou T, Kahl C, Martinez-Garay I, Mangelsdorf M, Gesk S, Baker E, Kokkinaki M, Talley P, Maltby EL, French L, Harder L, Hinzmann B, Nobile C, Richkind K, Finnis M, Deloukas P, Sutherland GR, Kutsche K, Moschonas NK, Siebert R, Gécz J; European Collaborative Consortium for the Study of ADLTE. Sarafidou T, et al. Among authors: gesk s. Genomics. 2004 Jul;84(1):69-81. doi: 10.1016/j.ygeno.2003.12.017. Genomics. 2004. PMID: 15203205
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM, Thomas NS. Gilling M, et al. Among authors: gesk s. Am J Hum Genet. 2006 May;78(5):878-883. doi: 10.1086/503632. Epub 2006 Mar 17. Am J Hum Genet. 2006. PMID: 16642442 Free PMC article.
Identification of candidate tumor-suppressor genes in 6q27 by combined deletion mapping and electronic expression profiling in lymphoid neoplasms.
Steinemann D, Gesk S, Zhang Y, Harder L, Pilarsky C, Hinzmann B, Martin-Subero JI, Calasanz MJ, Mungall A, Rosenthal A, Siebert R, Schlegelberger B. Steinemann D, et al. Among authors: gesk s. Genes Chromosomes Cancer. 2003 Aug;37(4):421-6. doi: 10.1002/gcc.10231. Genes Chromosomes Cancer. 2003. PMID: 12800155
107 results