The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15. 5

M Du, W Zhou, LG Beatty, R Weksberg, PD Sadowski - Genomics, 2004 - Elsevier
The human 11p15. 5 region contains several maternally and paternally imprinted genes.
Dysregulation of imprinting of some of these genes occurs in the Beckwith–Wiedemann …

Growth regulation, imprinted genes, and chromosome 11p15. 5

AC Smith, S Choufani, JC Ferreira, R Weksberg - Pediatric research, 2007 - nature.com
Genomic imprinting refers to parent-of-origin–specific gene expression. Human
chromosome band 11p15. 5 houses a large cluster of genes that are imprinted …

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

F Cerrato, A Sparago, ID Matteo, X Zou… - Human molecular …, 2005 - academic.oup.com
A large cluster of imprinted genes is located on the mouse distal chromosome 7. This cluster
is well conserved in humans and its dysregulation results in the overgrowth-and tumour …

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15. 5

M Paulsen, KR Davies, LM Bowden… - Human molecular …, 1998 - academic.oup.com
In human and mouse, most imprinted genes are arranged in chromosomal clusters. Their
linked organization suggests co-ordinated mechanisms controlling imprinting and gene …

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

J Beygo, I Joksic, TM Strom, HJ Lüdecke… - European Journal of …, 2016 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS; OMIM# 130650) is an overgrowth
syndrome caused by different genetic or epigenetic alterations affecting imprinted regions …

Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer

K Higashimoto, H Soejima, T Saito… - … and genome research, 2006 - karger.com
Abstract Human chromosomal region 11p15. 5, which is homologous to mouse
chromosome region 7F5, is a well-known imprinted region. The CDKN1C/KCNQ1OT1 …

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment

J Beygo, J Bürger, TM Strom, S Kaya… - European Journal of …, 2019 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS; OMIM# 130650) is an imprinting disorder
caused by genetic or epigenetic alterations of one or both imprinting control regions on …

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

D Mancini-DiNardo, SJS Steele… - Genes & …, 2006 - genesdev.cshlp.org
The imprinted gene cluster at the telomeric end of mouse chromosome 7 contains a
differentially methylated CpG island, KvDMR, that is required for the imprinting of multiple …

Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster

T Caspary, MA Cleary, CC Baker, XJ Guan… - … and cellular biology, 1998 - Am Soc Microbiol
Genomic imprinting is an epigenetic process that results in the preferential silencing of one
of the two parental copies of a gene. Although the precise mechanisms by which genomic …

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

H Soejima, K Higashimoto - Journal of human genetics, 2013 - nature.com
Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential
expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains …