(Q37975122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Hiroyuki Sasaki

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

12 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

84-91

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22237588%20AND%20SRC:MED&resulttype=core&format=json

Completion of mouse embryogenesis requires both the maternal and paternal genomes

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Differential activity of maternally and paternally derived chromosome regions in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Sex-specific parent-of-origin allelic expression in the mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Role for DNA methylation in genomic imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting: the emergence of an epigenetic paradigm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting: employing and avoiding epigenetic processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Regulation of DNA methylation of Rasgrf1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting: parental influence on the genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Epigenetic reprogramming in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting in mammals: its life cycle, molecular mechanisms and reprogramming

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genetic evidence for Dnmt3a-dependent imprinting during oocyte growth obtained by conditional knockout with Zp3-Cre and complete exclusion of Dnmt3b by chimera formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Stochastic imprinting in the progeny of Dnmt3L-/- females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Dnmt3L and the establishment of maternal genomic imprints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Transcription is required for establishment of germline methylation marks at imprinted genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

De novo DNA methylation: a germ cell perspective.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Differential histone modifications mark mouse imprinting control regions during spermatogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

PGC7/Stella protects against DNA demethylation in early embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting disorders in humans: a mini-review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

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.2011.151

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.2011.151

Epigenetic signatures of Silver-Russell syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

Transient neonatal diabetes mellitus type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Cell microarrays and RNA interference chip away at gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Prader–Willi syndrome and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Mechanisms of imprinting of the Prader-Willi/Angelman region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Genomic imprinting in disruptive spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Methylation defects of imprinted genes in human testicular spermatozoa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Aberrant DNA methylation at imprinted genes in testicular sperm retrieved from men with obstructive azoospermia and undergoing vasectomy reversal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Aberrant DNA methylation of imprinted loci in superovulated oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Intracytoplasmic sperm injection may increase the risk of imprinting defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

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.2011.151

Beckwith-Wiedemann syndrome and IVF: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A survey of assisted reproductive technology births and imprinting disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Childhood outcomes of assisted reproductive technology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A review of known imprinting syndromes and their association with assisted reproduction technologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Aberrant silencing of imprinted genes on chromosome 12qF1 in mouse induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Epigenetics and the germline

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Reconstitution of the mouse germ cell specification pathway in culture by pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Distinctive chromatin in human sperm packages genes for embryo development

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

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.2011.151

7 January 2021

The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.151

7 January 2021