(Q38089794)

English

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

scientific article published on 09 April 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

author name string

K J Jacob

1

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

W P Robinson

2

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

L Lefebvre

3

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

publication date

9 April 2013

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

28 August 2017

84

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

326-334

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

The genetic aetiology of Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Maternal uniparental disomy 7 in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Parental-origin-specific epigenetic modification of the mouse H19 gene

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

A paternal-specific methylation imprint marks the alleles of the mouse H19 gene.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Timing of establishment of paternal methylation imprints in the mouse.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Epigenetic and phenotypic consequences of a truncation disrupting the imprinted domain on distal mouse chromosome 7.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Parental imprinting of the mouse insulin-like growth factor II gene.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Placental-specific IGF-II is a major modulator of placental and fetal growth.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The product of the H19 gene may function as an RNA

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The H19 locus acts in vivo as a tumor suppressor

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

H19 acts as a trans regulator of the imprinted gene network controlling growth in mice

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The structural H19 gene is required for transgene imprinting

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Mouse parthenogenetic embryos with monoallelic H19 expression can develop to day 17.5 of gestation.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The imprinted H19 noncoding RNA is a primary microRNA precursor

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The expression profile of microRNAs in mouse embryos

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Deletion of the H19 transcription unit reveals the existence of a putative imprinting control element

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

A novel H19 antisense RNA overexpressed in breast cancer contributes to paternal IGF2 expression

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

H19 antisense RNA can up-regulate Igf2 transcription by activation of a novel promoter in mouse myoblasts

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Genomic imprinting of Mash2, a mouse gene required for trophoblast development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Essential role of Mash-2 in extraembryonic development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Mash2 is expressed in oogenesis and preimplantation development but is not required for blastocyst formation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Partial loss of Ascl2 function affects all three layers of the mature placenta and causes intrauterine growth restriction

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The human ASCL2 gene escaping genomic imprinting and its expression pattern

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The Human Achaete Scute Homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Dynamic temporal and spatial regulation of the cdk inhibitor p57(kip2) during embryo morphogenesis.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Early patterning of the chorion leads to the trilaminar trophoblast cell structure in the placental labyrinth

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Cooperation between the Cdk inhibitors p27(KIP1) and p57(KIP2) in the control of tissue growth and development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Methylation at mouse Cdkn1c is acquired during postimplantation development and functions to maintain imprinted expression.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Domain regulation of imprinting cluster in Kip2/Lit1 subdomain on mouse chromosome 7F4/F5: large-scale DNA methylation analysis reveals that DMR-Lit1 is a putative imprinting control region

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Developmental regulation of somatic imprints

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Lsh controls silencing of the imprinted Cdkn1c gene

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Genome-wide mapping of imprinted differentially methylated regions by DNA methylation profiling of human placentas from triploidies

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Placental overgrowth in mice lacking the imprinted gene Ipl

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Oncogenic role of miR-483-3p at the IGF2/483 locus

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

A genomic imprinting defect in mice traced to a single gene

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Tumour-suppressor activity of H19 RNA

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12143

21 January 2018

Identifiers

10.1111/CGE.12143

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 August 2017

ResearchGate publication ID

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