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References

These sources were used to develop the Genetics Home Reference gene summary on the KCNQ1OT1 gene.

Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet. 2001 Mar 1;10(5):467-76. PubMed citation
Delaval K, Wagschal A, Feil R. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays. 2006 May;28(5):453-9. Review. PubMed citation
Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ. Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome. J Med Genet. 2005 Aug;42(8):648-55. PubMed citation
Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD. The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5. Genomics. 2004 Aug;84(2):288-300. PubMed citation
Enklaar T, Zabel BU, Prawitt D. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med. 2006 Jul 17;8(17):1-19. Review. PubMed citation
Entrez Gene
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Am J Hum Genet. 2004 Nov;75(5):844-9. Epub 2004 Sep 15. PubMed citation
Thakur N, Tiwari VK, Thomassin H, Pandey RR, Kanduri M, Göndör A, Grange T, Ohlsson R, Kanduri C. An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region. Mol Cell Biol. 2004 Sep;24(18):7855-62. PubMed citation
Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. PubMed citation
Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. Review. PubMed citation


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