ArticleJournal of medical genetics2006
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 91 citations in OpenAlex.
- Knockdown of TTC9 inhibits the proliferation, migration and invasion, but induces the apoptosis of lung adenocarcinoma cells.Heliyon · 2022Article
- Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.Annals of laboratory medicine · 2021Article
- Isolated Hypomethylation ofDiagnostics (Basel, Switzerland) · 2021Article
- Prenatal correction of IGF2 to rescue the growth phenotypes in mouse models of Beckwith-Wiedemann and Silver-Russell syndromes.Cell reports · 2021Article
- Toxicity of Nanoparticles in Biomedical Application: Nanotoxicology.Journal of toxicology · 2021Review
- Epidrugs: targeting epigenetic marks in cancer treatment.Epigenetics · 2019Review
- Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.Scientific reports · 2017Article
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Human molecular genetics · 2016Article
- Genome-wide methylation analysis in Silver-Russell syndrome patients.Human genetics · 2015Article
- Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.The Journal of molecular diagnostics : JMD · 2010Article
- Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme · 2010Article
- IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome.International journal of pediatric endocrinology · 2010Article
- Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2010Review
- Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.European journal of human genetics : EJHG · 2009Article
- Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.Journal of molecular medicine (Berlin, Germany) · 2008Article
- Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.Journal of human genetics · 2008Article
- Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.Journal of medical genetics · 2007Article
- The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.Journal of medical genetics · 2007Article
- A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.Human genetics · 2006Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSilver-Russell syndrome (SRS; also know as Russell-Silver syndrome) is a heterogeneous syndrome which is characterised by severe intrauterine and postnatal growth retardation and typical dysmorphic features. Recently, the first SRS patients with (epi)genetic mutations in 11p15 affecting the telomeric imprinting domain have been identified. Interestingly, opposite mutations are associated with Beckwith-Wiedemann syndrome (BWS). However, the general significance of epigenetic mutations in 11p15 for the aetiology of SRS remained unclear.
methodsWe screened a cohort of 51 SRS patients for epimutations in ICR1 and KCNQ1OT1 by methylation sensitive Southern blot analyses.
resultsICR1 demethylation could be observed in 16 of the 51 SRS patients, corresponding to a frequency of approximately 31%. Changes in methylation at the KCNQ1OT1 locus were not detected. DISCUSSION: Combining these data with those on maternal duplications in 11p15, nearly 35% of SRS cases are associated with detectable (epi)genetic disturbances in 11p15. We now have to also consider a general involvement of 11p15 alterations in growth retarded patients with only minor or without further dysmorphic features. SRS and BWS may now be regarded as two diseases caused by opposite (epi)genetic disturbances of the same chromosomal region displaying opposite clinical pictures.
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