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Gene Information
Gene symbol: H19
Gene name: H19, imprinted maternally expressed transcript
HGNC ID: 4713
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | CDKN1C | 1 hits |
| 2 | DNMT3A | 1 hits |
| 3 | ICR1 | 1 hits |
| 4 | IGF2 | 1 hits |
| 5 | INS | 1 hits |
| 6 | RSS | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 11813134 | The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15. |
| 2 | 11813134 | These results define an epigenotype-phenotype relationship in BWS, in which aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specific birth defects. |
| 3 | 21047779 | Here, we demonstrate that deletion of both Gsk-3? and Gsk-3? in mouse embryonic stem cells results in reduced expression of the de novo DNA methyltransferase Dnmt3a2, causing misexpression of the imprinted genes Igf2, H19, and Igf2r and hypomethylation of their corresponding imprinted control regions. |
| 4 | 10839546 | Although these neighbouring genes share an enhancer, H19 is expressed only from the maternal allele, and Igf2 only from the paternally inherited allele. |
| 5 | 19794064 | However, at day 16 mothers carrying H19(Delta13)-null pups had a significantly higher area under the glucose tolerance test curves than controls (1,845 +/- 378 vs. 1,386 +/- 107 mmol * min * l(-1) [P = 0.01]) in association with increasing pregnancy-related insulin resistance. |
| 6 | 20007505 | The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. |
| 7 | 20007505 | DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). |
| 8 | 20007505 | We investigated the CTCF gene and the ICR1 domain in 21 BWS patients with ICR1 gain of methylation and 16 SRS patients with ICR1 loss of methylation. |
| 9 | 20007505 | Our data extends the spectrum of constitutive genetic ICR1 abnormalities and suggests that extensive and accurate analysis of ICR1 is required for appropriate genetic counseling in BWS patients with ICR1 gain of methylation. |