| 1 | KCNQ1OT1
|
| 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
|
| 2 | CDKN1C, KCNQ1OT1
|
| A cross-talk between DNA methylation and H3 lysine 9 dimethylation at the KvDMR1 region controls the induction of Cdkn1c in muscle cells.
|
| Andresini O, Ciotti A, Rossi MN, Battistelli C, Carbone M, Maione R.
|
| Epigenetics. Nov;11(11):791-803. doi: 10.1080/15592294.2016.1230576. Epub 2016 Sep 9. 2016
|
| 3 | KCNQ1OT1
|
| 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
|
| 4 | KCNQ1OT1
|
| 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
|
| 5 | KCNQ1, 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
|
| 6 | KCNQ1OT1
|
| 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
|
| 7 | KCNQ1OT1
|
| 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
|
| 8 | BWS, 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
|
| 9 | BWS, 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
|
| 10 | KCNQ1OT1
|
| 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
|
| 11 | KCNQ1OT1
|
| 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
|
| 12 | IGF2, 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
|
| 13 | KCNQ1OT1
|
| 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
|
| 14 | H19, 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
|
| 15 | CDKN1C, 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
|
| 16 | BWS, H19, KCNQ1OT1
|
| Beckwith-Wiedemann syndrome.
|
| Weksberg R, Shuman C, Smith AC.
|
| Am J Med Genet C Semin Med Genet 137(1):12-23. 2005
|
| 17 | KCNQ1OT1, 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
|
| 18 | TRPM5, 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
|
| 19 | KCNQ1OT1, 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
|
| 20 | CDKN1C, 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
|
| 21 | CDKN1C, 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
|
| 22 | KCNQ1OT1
|
| 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
|
| 23 | KCNQ1OT1, 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
|
| 24 | BWS, 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
|
| 25 | KCNQ1OT1
|
| 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
|
| 26 | KCNQ1OT1
|
| 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
|
| 27 | KCNQ1OT1
|
| 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
|
| 28 | KCNQ1OT1, 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
|
| 29 | BCYRN1, 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
|
| 30 | BWS, 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
|
| 31 | BWS, 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
|
| 32 | BWS, 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
|
| 33 | KCNQ1OT1
|
| 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
|
| 34 | KCNQ1OT1
|
| 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
|
| 35 | BWS, 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
|
| 36 | KCNQ1, 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
|
| 37 | KCNQ1, 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
|