Citations for
1KCNQ1OT1
Regulation of functional KCNQ1OT1 lncRNA by β-catenin.
Sunamura N, Ohira T, Kataoka M, Inaoka D, Tanabe H, Nakayama Y, Oshimura M, Kugoh H.
Sci Rep 6:20690. doi: 10.1038/srep20690. 2016
2KCNQ1OT1
A novel tetranucleotide repeat polymorphism within KCNQ1OT1 confers risk for hepatocellular carcinoma.
Wan J, Huang M, Zhao H, Wang C, Zhao X, Jiang X, Bian S, He Y, Gao Y.
DNA Cell Biol 32(11):628-34. doi: 10.1089/dna.2013.2118. Epub 2013 Aug 28. 2013
3KCNQ1OT1
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB.
Hum Mol Genet 21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. 2012
4KCNQ1, KCNQ1OT1
The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart.
Korostowski L, Sedlak N, Engel N.
PLoS Genet 8(9):e1002956. doi: 10.1371/journal.pgen.1002956. Epub 2012 Sep 20. 2012
5KCNQ1OT1
Depletion of Kcnq1ot1 non-coding RNA does not affect imprinting maintenance in stem cells.
Golding MC, Magri LS, Zhang L, Lalone SA, Higgins MJ, Mann MR.
Development 138(17):3667-78. doi: 10.1242/dev.057778. Epub 2011 Jul 20. 2011
6KCNQ1OT1
Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1.
Mohammad F, Mondal T, Guseva N, Pandey GK, Kanduri C.
Development 137(15):2493-9. doi: 10.1242/dev.048181. Epub 2010 Jun 23. 2010
7BWS, GNAS, KCNQ1OT1, PLAGL1
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A.
Eur J Hum Genet 17(5):611-9. Epub 2008 Dec 17. 2009
8BWS, GNASAS, GRB10, HILS, KCNQ1OT1, PEG1/MEST, PEG3, TNDM, ZAC, ZFP57
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
Boonen SE, Pörksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK, Hahnemann JM.
Eur J Hum Genet 16(4):453-61. Epub 2008 Jan 16. 2008
9KCNQ1OT1
Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes.
Khoueiry R, Ibala-Rhomdane S, Méry L, Blachère T, Guérin JF, Lornage J, Lefèvre A.
J Med Genet 45(9):583-8. Erratum in: J Med Genet. 2008 Dec;45(12):832.. Khoureiry, R [corrected to Khoueiry, R]. 2008
10KCNQ1OT1
Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region.
Mohammad F, Pandey RR, Nagano T, Chakalova L, Mondal T, Fraser P, Kanduri C.
Mol Cell Biol 28(11):3713-28. Epub 2008 Feb 25.PMID: 18299392 2008
11IGF2, MEST, IPW, SNRPN, PEG3, MEG3, KCNQ1OT1
Status of genomic imprinting in human embryonic stem cells as revealed by a large cohort of independently derived and maintained lines.
Rugg-Gunn PJ, Ferguson-Smith AC, Pedersen RA.
Hum Mol Genet 16 Spec No 2:R243-51. 2007
12KCNQ1OT1
Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11.
Beatty L, Weksberg R, Sadowski PD.
Genomics 87(1):46-56. 2006
13H19, IH, KCNQ1OT1
LIT1 and H19 methylation defects in isolated hemihyperplasia.
Martin RA, Grange DK, Zehnbauer B, Debaun MR.
Am J Med Genet A 134(2):129-31. 2005
14CDKN1C, KCNQ1OT1, BWS
Alternative mechanisms associated with silencing of CDKN1C in Beckwith-Wiedemann syndrome.
Diaz-Meyer N, Yang Y, Sait SN, Maher ER, Higgins MJ.
J Med Genet 42(8):648-55. 2005
15BWS, H19, KCNQ1OT1
Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Smith AC.
Am J Med Genet C Semin Med Genet 137(1):12-23. 2005
16KCNQ1OT1, PLAGL1, CDKN1C
ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.
Arima T, Kamikihara T, Hayashida T, Kato K, Inoue T, Shirayoshi Y, Oshimura M, Soejima H, Mukai T, Wake N.
Nucleic Acids Res 33(8):2650-60. Print 2005. 2005
17TRPM5, INS, DMR1, KCNQ1OT1, IGF2, BWS
The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.
Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD.
Genomics 84(2):288-300. 2004
18KCNQ1OT1, BWS
Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome.
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP.
Am J Hum Genet 75(5):844-9. Epub 2004 Sep 15. 2004
19CDKN1C, H19, IGF2, KCNQ1OT1, SLC22A18, PHLDA2, BWS
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
Weksberg R, Smith AC, Squire J, Sadowski P.
Hum Mol Genet 12 Spec No 1:R61-8. 2003
20CDKN1C, H19, KCNQ1OT1, BWS
Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.
Du M, Beatty LG, Zhou W, Lew J, Schoenherr C, Weksberg R, Sadowski PD.
Hum Mol Genet 12(15):1927-39. 2003
21KCNQ1OT1
Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.
vHigashimoto K, Urano T, Sugiura K, Yatsuki H, Joh K, Zhao W, Iwakawa M, Ohashi H, Oshimura M, Niikawa N, Mukai T, Soejima H.
Am J Hum Genet 73(4):948-56. Epub 2003 Aug 29. 2003
22KCNQ1OT1, CDKN1C, BWS
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.
Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ.
J Med Genet 40(11):797-801. 2003
23BWS, H19, KCNQ1OT1
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
DeBaun MR, Niemitz EL, Feinberg AP.
Am J Hum Genet 72(1):156-60. Epub 2002 Nov 18. 2003
24KCNQ1OT1
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J.
Hum Mol Genet 11(11):1317-25. 2002
25KCNQ1OT1
The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.
Cerrato F, Vernucci M, Pedone PV, Chiariotti L, Sebastio G, Bruni CB, Riccio A.
Hum Genet 111(1):105-7. No abstract available. 2002
26KCNQ1OT1
Loss of methylation at chromosome 11p15.5 is common in human adult tumors.
Scelfo RA, Schwienbacher C, Veronese A, Gramantieri L, Bolondi L, Querzoli P, Nenci I, Calin GA, Angioni A, Barbanti-Brodano G, Negrini M.
Oncogene 21(16):2564-72. 2002
27KCNQ1OT1, CDKN1C, BWS
Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND.
J Am Soc Nephrol 13(8):2077-84. 2002
28BCYRN1, DISC2, GNAS, H19, IPW, KCNQ1OT1, NTT, SNORD22, SCA8, TSIX, UBE3A, XIST, MKRN3AS
The non-coding RNAs as riboregulators.
Erdmann VA, Barciszewska MZ, Szymanski M, Hochberg A, de Groot N, Barciszewski J.
Nucleic Acids Res 29(1):189-93. 2001
29BWS, KCNQ1OT1, H19
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
Eur J Hum Genet 9(6):409-18. 2001
30BWS, KCNQ1OT1
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
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.
Hum Mol Genet 10(26):2989-3000. 2001
31BWS, KCNQ1OT1, H19
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.
Hum Mol Genet 10(5):467-76. 2001
32KCNQ1OT1
Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in beckwith-wiedemann syndrome.
Horike Si, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M.
Hum Mol Genet 9(14):2075-83. 2000
33KCNQ1OT1
Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.
Yatsuki H, Watanabe H, Hattori M, Joh K, Soejima H, Komoda H, Xin Z, Zhu X, Higashimoto K, Nishimura M, Kuratomi S, Sasaki H, Sakaki Y, Mukai T.
DNA Res 7(3):195-206. 2000
34BWS, KCNQ1, KCNQ1OT1
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in beckwith-wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
Lee MP, et al.
Proc Natl Acad Sci U S A 96(9):5203-8. 1999
35KCNQ1, KCNQ1OT1
LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.
Mitsuya K, et al.
Hum Mol Genet 8(7):1209-1217. 1999
36KCNQ1, KCNQ1OT1
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in beckwith-wiedemann syndrome.
Smilinich NJ, et al.
Proc Natl Acad Sci U S A 96(14):8064-9. 1999