(Q38110380)

29 August 2017

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders (English)

1 reference

Beckwith-Wiedemann syndrome

29 August 2017

1 reference

Hidenobu Soejima

1

1 reference

PubMed ID

23719190

29 August 2017

Ken Higashimoto

series ordinal

2

1 reference

29 August 2017

30 May 2013

1 reference

Journal of Human Genetics

29 August 2017

1 reference

29 August 2017

58

1 reference

29 August 2017

7

1 reference

29 August 2017

402-409

1 reference

https://scigraph.springernature.com/pub.10.1038/jhg.2013.51

29 August 2017

0 references

cites work

Genomic imprinting: recognition and marking of imprinted loci

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

The imprinted H19 noncoding RNA is a primary microRNA precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Chromatin modification and epigenetic reprogramming in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Epigenetic events in mammalian germ-cell development: reprogramming and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19/Igf2-imprinted control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Transgenic RNAi reveals essential function for CTCF in H19 gene imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Silver-Russell syndrome: genetic basis and molecular genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

p57(Kip2) and cancer: time for a critical appraisal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

p57Kip2 regulates actin dynamics by binding and translocating LIM-kinase 1 to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

The Cdk inhibitor p57(Kip2) controls LIM-kinase 1 activity and regulates actin cytoskeleton dynamics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Suppression of cell transformation by the cyclin-dependent kinase inhibitor p57KIP2 requires binding to proliferating cell nuclear antigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Association of chromosome arm 16q loss with loss of imprinting of insulin-like growth factor-II in Wilms tumor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Genetic and epigenetic alterations on the short arm of chromosome 11 are involved in a majority of sporadic Wilms' tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Loss of imprinting of IGF2 correlates with hypermethylation of the H19 differentially methylated region in hepatoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Intracytoplasmic sperm injection may increase the risk of imprinting defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Imprinting disorders and assisted reproductive technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Assisted Reproductive Technology affects developmental kinetics, H19 Imprinting Control Region methylation and H19 gene expression in individual mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Dynamics of DNA-demethylation in early mouse and rat embryos developed in vivo and in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Manipulations of mouse embryos prior to implantation result in aberrant expression of imprinted genes on day 9.5 of development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Aberrant DNA methylation of imprinted loci in superovulated oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Zinc finger protein ZFP57 requires its co-factor to recruit DNA methyltransferases and maintains DNA methylation imprint in embryonic stem cells via its transcriptional repression domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

The inflammasome--a linebacker of innate defense.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Tumour-suppressor activity of H19 RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Polycomb group proteins Ezh2 and Rnf2 direct genomic contraction and imprinted repression in early mouse embryos

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Suggestive evidence for chromosomal localization of non-coding RNA from imprinted LIT1

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.51

7 January 2021

Identifiers

DOI

10.1038/JHG.2013.51

1 reference

PubMed ID

23719190

Dimensions Publication ID

29 August 2017

0 references

1 reference

PubMed ID

23719190