Profound alterations of the chromatin architecture at chromosome 11p15. 5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting-
related disorders associated with genetic/epigenetic alterations of the 11p15. 5 region …
related disorders associated with genetic/epigenetic alterations of the 11p15. 5 region …
New insights into the pathogenesis of Beckwith–Wiedemann and Silver–Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects
The imprinted 11p15 region is organized in two domains, each of them under the control of
its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the …
its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the …
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith–Wiedemann and Silver–Russell syndromes
J Demars, C Gicquel - Clinical genetics, 2012 - Wiley Online Library
Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in
Beckwith–Wiedemann and Silver–Russell syndromes. Genomic imprinting is a particularly …
Beckwith–Wiedemann and Silver–Russell syndromes. Genomic imprinting is a particularly …
The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome
NSS Naveh, DF Deegan, J Huhn, E Traxler… - Nucleic acids …, 2021 - academic.oup.com
DNA methylation, chromatin-binding proteins, and DNA looping are common components
regulating genomic imprinting which leads to parent-specific monoallelic gene expression …
regulating genomic imprinting which leads to parent-specific monoallelic gene expression …
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome
Hyper-and hypomethylation at the IGF2-H19 imprinting control region (ICR) result in
reciprocal changes in IGF2-H19 expression and the two contrasting growth disorders …
reciprocal changes in IGF2-H19 expression and the two contrasting growth disorders …
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
T Eggermann, M Begemann, L Pfeiffer - Clinical Epigenetics, 2021 - Springer
Background Whereas duplications in 11p15. 5 covering both imprinting centers (ICs) and
their subordinated genes account for up to 1% of Beckwith–Wiedemann and Silver–Russell …
their subordinated genes account for up to 1% of Beckwith–Wiedemann and Silver–Russell …
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell …
N Chiesa, A De Crescenzo, K Mishra… - Human molecular …, 2012 - academic.oup.com
A cluster of imprinted genes at chromosome 11p15. 5 is associated with the growth
disorders, Silver–Russell syndrome (SRS) and Beckwith–Wiedemann syndrome (BWS). The …
disorders, Silver–Russell syndrome (SRS) and Beckwith–Wiedemann syndrome (BWS). The …
Different methylation patterns in BWS/SRS cases clarified by MS-MLPA
M Lukova, A Todorova, T Todorov, V Mitev - Molecular biology reports, 2013 - Springer
Molecular abnormalities in the 11p15. 5 imprinted gene cluster lead to two different growth
diseases: Beckwith-Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) …
diseases: Beckwith-Wiedemann syndrome (BWS) and Silver–Russell syndrome (SRS) …
Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region
ME Shmela, CF Gicquel - Journal of medical genetics, 2013 - jmg.bmj.com
The 11p15 region is organised into two independent imprinted domains controlled by
imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 …
imprinting control regions, which carry opposite germline imprints. Dysregulation of 11p15 …
An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C
E Algar, V Dagar, M Sebaj, N Pachter - PLoS One, 2011 - journals.plos.org
We report a three generation family with Beckwith Wiedemann syndrome (BWS) in whom we
have identified a 330 kb deletion within the KCNQ1 locus, encompassing the 11p15. 5 …
have identified a 330 kb deletion within the KCNQ1 locus, encompassing the 11p15. 5 …