ArticleScientific reports2017
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Investigation of methylation profiles in Silver-Russell syndrome to explore episignatures.Clinical epigenetics · 2025Article
- The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction.Human genetics · 2024Article
- Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.Clinical epigenetics · 2020Article
- Review
- Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.Aging cell · 2019Article
- Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.Current osteoporosis reports · 2019Review
- Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.Clinical epigenetics · 2019Article
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.American journal of human genetics · 2019Article
- BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.Nature communications · 2018Article
- Contrasting effects of acute and chronic stress on the transcriptome, epigenome, and immune response of Atlantic salmon.Epigenetics · 2018Article
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of HOXA4 in 55% of the patients. We then tested 39 patients with severe growth restriction of unknown etiology, and found hypomethylation of HOXA4 in 44% of the patients. Finally, we found that methylation at multiple CpG sites in the HOXA4 promoter region was associated with height in a cohort of 227 healthy children, suggesting that HOXA4 may play a role in regulating human growth by epigenetic mechanisms.
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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 Socratic graph.