Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0429-0.pdf
Reference12 articles.
1. Moore JM, Rabaia NA, Smith LE, Fagerlie S, Gurley K, Loukinov D, et al. Loss of maternal CTCF is associated with peri-implantation lethality of Ctcf null embryos. PLoS One. 2012;7(4):e34915.
2. Filippova GN, Fagerlie S, Klenova EM, Myers C, Dehner Y, Goodwin G, et al. An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes. Mol Cell Biol. 1996;16(6):2802–13.
3. Ideraabdullah FY, Thorvaldsen JL, Myers JA, Bartolomei MS. Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region. Hum Mol Genet. 2014;23(23):6246–59.
4. Katainen R, Dave K, Pitkanen E, Palin K, Kivioja T, Valimaki N, et al. CTCF/cohesin-binding sites are frequently mutated in cancer. Nat Genet. 2015;47(7):818–21.
5. Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, et al. De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 2013;93(1):124–31.
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