| 1 | H19, HNRNPU
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| H19 inhibits RNA polymerase II-mediated transcription by disrupting the hnRNP U-actin complex.
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| Bi HS, Yang XY, Yuan JH, Yang F, Xu D, Guo YJ, Zhang L, Zhou CC, Wang F, Sun SH.
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| Biochim Biophys Acta 1830(10):4899-906. doi: 10.1016/j.bbagen.2013.06.026. Epub 2013 Jun 27.
2013
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| 2 | BWS, H19
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| Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
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| Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ.
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| Eur J Hum Genet 20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24.
2012
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| 3 | BWS, H19, IGF2, SRS11
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| Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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| Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A.
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| Hum Mol Genet 20(7):1363-74. Epub 2011 Jan 31.
2011
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| 4 | ERH, H19, HOTS
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| A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript.
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| Onyango P, Feinberg AP.
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| Proc Natl Acad Sci U S A 108(40):16759-64. Epub 2011 Sep 21. 2011
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| 5 | BWS, H19, IGF2, SRS11
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| Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
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| Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.
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| Hum Mol Genet 19(5):803-14. Epub 2009 Dec 9.PMID: 20007505 2010
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| 6 | H19, IGF2, SRS11
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| Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
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| Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.
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| J Med Genet 46(3):192-7. Epub 2008 Dec 9.
2009
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| 7 | H19, KCNQ10T1, SRS11
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| Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.
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| Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M.
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| J Clin Endocrinol Metab 94(2):579-87. Epub 2008 Nov 18.
2009
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| 8 | BWS, DLK1, H19
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| Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
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| Bliek J, Alders M, Maas SM, Oostra RJ, Mackay DM, van der Lip K, Callaway JL, Brooks A, van 't Padje S, Westerveld A, Leschot NJ, Mannens MM.
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| Eur J Hum Genet 17(12):1625-34. Epub 2009 Jun 10.
2009
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| 9 | H19, IGF2
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| Hypomethylated and hypermethylated profiles of H19DMR are associated with the aberrant imprinting of IGF2 and H19 in human hepatocellular carcinoma.
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| Wu J, Qin Y, Li B, He WZ, Sun ZL.
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| Genomics 91(5):443-50. Epub 2008 Mar 20.
2008
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| 10 | IGF2, H19, RB, BWS
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| Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
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| Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A.
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| Hum Mol Genet 17(10):1427-35. Epub 2008 Feb 1. 2008
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| 11 | H19
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| The H19 locus acts in vivo as a tumor suppressor.
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| Yoshimizu T, Miroglio A, Ripoche MA, Gabory A, Vernucci M, Riccio A, Colnot S, Godard C, Terris B, Jammes H, Dandolo L.
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| Proc Natl Acad Sci U S A 105(34):12417-22. Epub 2008 Aug 21.
2008
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| 12 | H19, WT2
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| Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.
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| Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration, Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N.
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| Nat Genet 40(11):1329-34. Epub 2008 Oct 5.
2008
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| 13 | CTCF, H19
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| CTCF is the master organizer of domain-wide allele-specific chromatin at the H19/Igf2 imprinted region.
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| Han L, Lee DH, Szabó PE.
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| Mol Cell Biol 28(3):1124-35. Epub 2007 Nov 26.PMID: 18039862 2008
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| 14 | H19, IH
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| Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.
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| Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M.
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| Am J Hum Genet 78(4):604-14. Epub 2006 Mar 1. 2006
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| 15 | H19, IGF2, IH
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| Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.
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| Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R.
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| Am J Med Genet A 140(14):1497-503. 2006
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| 16 | CTCF, H19, IGF2, BWS, WT1
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| Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
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| Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B.
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| Proc Natl Acad Sci U S A 102(11):4085-90. Epub 2005 Mar 2. 2005
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| 17 | H19, IH, KCNQ1OT1
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| LIT1 and H19 methylation defects in isolated hemihyperplasia.
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| Martin RA, Grange DK, Zehnbauer B, Debaun MR.
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| Am J Med Genet A 134(2):129-31. 2005
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| 18 | BWS, H19, KCNQ1OT1
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| Beckwith-Wiedemann syndrome.
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| Weksberg R, Shuman C, Smith AC.
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| Am J Med Genet C Semin Med Genet 137(1):12-23. 2005
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| 19 | BWS, H19, IH
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| Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor.
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| Niemitz EL, Feinberg AP, Brandenburg SA, Grundy PE, Debaun MR.
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| Am J Hum Genet 77(5):887-91. Epub 2005 Oct 3. 2005
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| 20 | BWS, IGF2, H19
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| Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
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| Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A.
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| Nat Genet 36(9):958-60. Epub 2004 Aug 15. 2004
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| 21 | CDKN1C, H19, IGF2, KCNQ1OT1, SLC22A18, PHLDA2, BWS
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| Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
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| Weksberg R, Smith AC, Squire J, Sadowski P.
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| Hum Mol Genet 12 Spec No 1:R61-8. 2003
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| 22 | CDKN1C, H19, KCNQ1OT1, BWS
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| Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.
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| Du M, Beatty LG, Zhou W, Lew J, Schoenherr C, Weksberg R, Sadowski PD.
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| Hum Mol Genet 12(15):1927-39. 2003
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| 23 | BWS, H19, KCNQ1OT1
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| Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
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| DeBaun MR, Niemitz EL, Feinberg AP.
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| Am J Hum Genet 72(1):156-60. Epub 2002 Nov 18. 2003
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| 24 | H19, KCNQ1OT1, BWS
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| Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
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| DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.
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| Am J Hum Genet 70(3):604-11. 2002
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| 25 | H19, IGF2, KCNQ1
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| A differentially methylated imprinting control region within the Kcnq1 locus harbors a methylation-sensitive chromatin insulator.
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| Kanduri C, Fitzpatrick G, Mukhopadhyay R, Kanduri M, Lobanenkov V, Higgins M, Ohlsson R.
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| J Biol Chem 277(20):18106-10. 2002
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| 26 | CTCF, H19
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| Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer.
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| Takai D, Gonzales FA, Tsai YC, Thayer MJ, Jones PA.
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| Hum Mol Genet 10(23):2619-26. 2001
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| 27 | BCYRN1, DISC2, GNAS, H19, IPW, KCNQ1OT1, NTT, SNORD22, SCA8, TSIX, UBE3A, XIST, MKRN3AS
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| The non-coding RNAs as riboregulators.
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| Erdmann VA, Barciszewska MZ, Szymanski M, Hochberg A, de Groot N, Barciszewski J.
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| Nucleic Acids Res 29(1):189-93. 2001
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| 28 | BWS, KCNQ1OT1, H19
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| Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
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| Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
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| Eur J Hum Genet 9(6):409-18. 2001
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| 29 | BWS, KCNQ1OT1, H19
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| Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
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| Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.
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| Hum Mol Genet 10(5):467-76. 2001
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| 30 | BWS, CDKN1C, H19, IGF2, NAP1L4
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| Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome.
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| Catchpoole D, Smallwood AV, Joyce JA, Murrell A, Lam W, Tang T, Munroe D, Reik W, Schofield PN, Maher ER.
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| J Med Genet 37(3):212-5. No abstract available. 2000
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| 31 | H19
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| The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell development.
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| Davis TL, Yang GJ, McCarrey JR, Bartolomei MS.
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| Hum Mol Genet 9(19):2885-94. 2000
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| 32 | CTCF, H19
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| Functional association of CTCF with the insulator upstream of the H19 gene is parent of origin-specific and methylation-sensitive.
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| Kanduri C, Pant V, Loukinov D, Pugacheva E, Qi CF, Wolffe A, Ohlsson R, Lobanenkov VV.
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| Curr Biol 10(14):853-6. 2000
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| 33 | H19, IGF2
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| Enhancer competition between H19 and Igf2 does not mediate their imprinting.
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| Schmidt JV, et al.
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| Proc Natl Acad Sci U S A 96(17):9733-8 1999
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| 34 | H19
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| The expression of the H19 gene and its function in human bladder carcinoma cell lines.
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| Ohana P, et al.
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| FEBS Lett 454(1-2):81-4 1999
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| 35 | H19, SNRPN
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| Methylation Imprinting of H19 and SNRPN Genes in Human Benign Ovarian Teratomas.
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| Miura K, Obama M, Yun K, Masuzaki H, Ikeda Y, Yoshimura S, Akashi T, Niikawa N, Ishimaru T, Jinno Y.
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| Am J Hum Genet 65(5):1359-1367 1999
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| 36 | H19, IGF2
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| Frequent loss of imprinting at the IGF2 and H19 genes in head and neck squamous carcinoma.
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| el-Naggar AK, Lai S, Tucker SA, Clayman GL, Goepfert H, Hong WK, Huff V.
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| Oncogene 18(50):7063-9. 1999
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| 37 | H19, IGF2
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| Dissociation of IGF2 and H19 imprinting in human brain.
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| Pham NV, et al.
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| Brain Res 810 : 1-8. 1998
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| 38 | H19
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| Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma.
|
| Casola S, et al.
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| Oncogene 14 : 1503-1510. 1997
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| 39 | IGF2, H19, WT2
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| Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms tumorigenesis.
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| Okamoto K, et al.
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| Proc Natl Acad Sci U S A 94 : 5367-5371. 1997
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| 40 | BWS, H19
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| Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
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| Catchpoole D, Lam WW, Valler D, Temple IK, Joyce JA, Reik W, Schofield PN, Maher ER.
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| J Med Genet 34(5):353-9. 1997
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| 41 | H19
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| Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element.
|
| Ripoche MA, Kress C, Poirier F, Dandolo L.
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| Genes Dev 11(12):1596-604. 1997
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| 42 | BWS, IGF2, H19
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| Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
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| Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN.
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| Hum Mol Genet 6(9):1543-8. 1997
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| 43 | CDKN1C, H19
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| Chromosome 11p15.5 regional imprinting : comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors.
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| Chung MY, et al.
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| Hum Mol Genet 5 : 1101-1108. 1996
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| 44 | BWS, H19, IGF2
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| Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
|
| Brown KW, et al.
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| Hum Mol Genet 5 : 2027-2032. 1996
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| 45 | BWS, H19, IGF2
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| Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain.
|
| Reik W, et al.
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| Hum Mol Genet 4 : 2379-2385. 1995
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| 46 | H19
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| Establishment of functional imprinting of the H19 gene in human developing placentae.
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| Jinno Y, et al.
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| Nat Genet 10 : 318-324 1995
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| 47 | H19, IGF2
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| Expression, promoter usage and parental imprinting status of insulin-like growth factor II (IGF2) in human hepatoblastoma : uncoupling of IGF2 and H19 imprinting.
|
| Li X, et al.
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| Oncogene 11 : 221-229. 1995
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| 48 | H19, ST5, WT2
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| Epigenetic lesions at the H19 locus in Wilms'tumour patients.
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| Moulton T, et al.
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| Nat Genet 7 : 440-447. 1994
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| 49 | H19, IGF2, WT2
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| Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms'tumour.
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| Steenman MJC, et al.
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| Nat Genet 7 : 433-439. 1994
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| 50 | H19
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| TaqI and RsaI polymorphisms in the H19 gene (D11S813E).
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| Redeker E, et al.
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| Hum Mol Genet 2 : 823. 1993
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| 51 | H19
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| Imprinting of human H19 : allele-specific CpG methylation, loss of the active allele in Wilms tumor, and potential for somatic allele switching.
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| Zhang Y, et al.
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| Am J Hum Genet 53 : 113-114. 1993
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| 52 | H19
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| Tumour-suppressor activity of H19 RNA.
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| Hao Y, et al.
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| Nature 365 : 764-767. 1993
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| 53 | H19, IGF2
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| Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2.
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| Zemel S, et al.
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| Nat Genet 2 : 61-65. 1992
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| 54 | H19
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| The human ASM (adult skeletal muscle) gene : expression and chromosomal assignment to 11p15.
|
| Leibovitch MP, et al.
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| Biochem Biophys Res Commun 180 : 1241-1250. 1991
|