Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications (Q38166841)

30 August 2017

Epigenetic deregulation of genomic imprinting in humans: causal mechanisms and clinical implications (English)

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30 August 2017

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

David Lleres

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Michael Girardot

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

1 December 2013

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30 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24283884%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

715-728

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Completion of mouse embryogenesis requires both the maternal and paternal genomes

9 June 2020

cites work

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Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

21 January 2018

1 reference

Genomic imprinting: the emergence of an epigenetic paradigm.

21 January 2018

1 reference

Chromatin mechanisms in genomic imprinting

21 January 2018

1 reference

Genomic imprinting and human disease

21 January 2018

1 reference

Epigenetic deregulation of genomic imprinting in human disorders and following assisted reproduction.

21 January 2018

1 reference

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular mechanisms of genomic imprinting and clinical implications for cancer

21 January 2018

1 reference

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

21 January 2018

1 reference

The genetic aetiology of Silver-Russell syndrome

21 January 2018

1 reference

Managing children with Russell-Silver syndrome: more than just growth hormone treatment?

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Epigenetic asymmetry in the zygote and mammalian development

21 January 2018

1 reference

Genomic imprinting disorders in humans: a mini-review

21 January 2018

1 reference

Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome.

21 January 2018

1 reference

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

21 January 2018

1 reference

Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

21 January 2018

1 reference

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.

21 January 2018

1 reference

Neonatal diabetes: new insights into aetiology and implications

21 January 2018

1 reference

Transient neonatal diabetes, a disorder of imprinting.

21 January 2018

1 reference

A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

21 January 2018

1 reference

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

21 January 2018

1 reference

Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines

21 January 2018

1 reference

Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth

21 January 2018

1 reference

Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus

21 January 2018

1 reference

Cell microarrays and RNA interference chip away at gene function

21 January 2018

1 reference

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

21 January 2018

1 reference

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

21 January 2018

1 reference

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

21 January 2018

1 reference

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

21 January 2018

1 reference

Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease

21 January 2018

1 reference

Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12.

21 January 2018

1 reference

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

21 January 2018

1 reference

ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

21 January 2018

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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

21 January 2018

1 reference

A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints

21 January 2018

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

21 January 2018

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Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.

21 January 2018

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The SRA protein Np95 mediates epigenetic inheritance by recruiting Dnmt1 to methylated DNA

21 January 2018

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

21 January 2018

1 reference

Disruption of the interaction between transcriptional intermediary factor 1{beta} and heterochromatin protein 1 leads to a switch from DNA hyper- to hypomethylation and H3K9 to H3K27 trimethylation on the MEST promoter correlating with gene reactiva

21 January 2018

1 reference

Rex1/Zfp42 as an epigenetic regulator for genomic imprinting

21 January 2018

1 reference

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

21 January 2018

1 reference

Androgenetic origin of hydatidiform mole

21 January 2018

1 reference

Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

21 January 2018

1 reference

Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring

21 January 2018

1 reference

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

21 January 2018

1 reference

Genetic and epigenetic analysis of recurrent hydatidiform mole.

21 January 2018

1 reference

A global disorder of imprinting in the human female germ line.

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

21 January 2018

1 reference

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

21 January 2018

1 reference

Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

21 January 2018

1 reference

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

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

21 January 2018

1 reference

Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain

21 January 2018

1 reference

Induction of DNA demethylation depending on two sets of Sox2 and adjacent Oct3/4 binding sites (Sox-Oct motifs) within the mouse H19/insulin-like growth factor 2 (Igf2) imprinted control region

21 January 2018

1 reference

The pluripotency factor Oct4 interacts with Ctcf and also controls X-chromosome pairing and counting

21 January 2018

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Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus

21 January 2018

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The protein CTCF is required for the enhancer blocking activity of vertebrate insulators

21 January 2018

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Chromatin boundaries, insulators, and long-range interactions in the nucleus

21 January 2018

1 reference

CTCF: master weaver of the genome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops

21 January 2018

1 reference

Cohesin mediates transcriptional insulation by CCCTC-binding factor

21 January 2018

1 reference

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

21 January 2018

1 reference

CTCF maintains differential methylation at the Igf2/H19 locus

21 January 2018

1 reference

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

21 January 2018

1 reference

PGC7/Stella protects against DNA demethylation in early embryogenesis

21 January 2018

1 reference

The pre-implantation ontogeny of the H19 methylation imprint.

21 January 2018

1 reference

Essential role of DPPA3 for chromatin condensation in mouse oocytogenesis.

21 January 2018

1 reference

5-Hydroxymethylcytosine in the mammalian zygote is linked with epigenetic reprogramming

21 January 2018

1 reference

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain

21 January 2018

1 reference

Maintenance of paternal methylation and repression of the imprinted H19 gene requires MBD3

21 January 2018

1 reference

Metastasis tumor antigen 2 (MTA2) is involved in proper imprinted expression of H19 and Peg3 during mouse preimplantation development

21 January 2018

1 reference

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

21 January 2018

1 reference

Targets and dynamics of promoter DNA methylation during early mouse development.

21 January 2018

1 reference

New insights into establishment and maintenance of DNA methylation imprints in mammals

21 January 2018

1 reference

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

21 January 2018

1 reference

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

21 January 2018

1 reference