ArticleProceedings of the National Academy of Sciences of the United States of America2005
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52 citing papers in PubMed, 127 citations in OpenAlex.
- A Genotype-Phenotype Analysis of Four Chinese Children Carrying Distinct Pathogenic Variants in theGenes · 2026Article
- Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.Clinical genetics · 2026Review
- Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.Clinical epigenetics · 2026Article
- Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.Clinical epigenetics · 2025Article
- Genome-Wide DNA Methylation Profile in Jejunum Reveals the Potential Genes Associated With Paratuberculosis in Dairy Cattle.Frontiers in genetics · 2021Article
- Case Report: A Novel Deletion in the 11p15 Region Causing a Familial Beckwith-Wiedemann Syndrome.Frontiers in genetics · 2021Article
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- Association of mutation and low expression of theSaudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2020Article
- Pan-cancer analysis of somatic mutations and epigenetic alterations in insulated neighbourhood boundaries.PloS one · 2020Article
- Maternal Microdeletion at theEpigenetics insights · 2020Article
- The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome.Journal of human genetics · 2019Article
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Nature reviews. Endocrinology · 2018Review
- Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.PLoS genetics · 2018Article
- Is ZFP57 binding toClinical epigenetics · 2018Article
- CTCF promotes epithelial ovarian cancer metastasis by broadly controlling the expression of metastasis-associated genes.Oncotarget · 2017Article
- Functional roles of CTCF in breast cancer.BMB reports · 2017Article
- Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.BMC medical genetics · 2017Article
- lncRNA H19/miR-675 axis regulates cardiomyocyte apoptosis by targeting VDAC1 in diabetic cardiomyopathy.Scientific reports · 2016Article
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Molecular syndromology · 2016Review
- Epigenetics and Human Disease.Cold Spring Harbor perspectives in biology · 2016Review
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Authors and funding
16 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analyzed several cases of Beckwith-Wiedemann syndrome (BWS) with Wilms' tumor in a familial setting, which give insight into the complex controls of imprinting and gene expression in the chromosome 11p15 region. We describe a 2.2-kbp microdeletion in the H19/insulin-like growth factor 2 (IGF2)-imprinting center eliminating three target sites of the chromatin insulator protein CTCF that we believe here is necessary, but not sufficient, to cause BWS and Wilms' tumor. Maternal inheritance of the deletion is associated with IGF2 loss of imprinting and up-regulation of IGF2 mRNA. However, in at least one affected family member a second genetic lesion (a duplication of maternal 11p15) was identified and accompanied by a further increase in IGF2 mRNA levels 35-fold higher than control values. Our results suggest that the combined effects of the H19/IGF2-imprinting center microdeletion and 11p15 chromosome duplication were necessary for manifestation of BWS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.