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

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20 January 2020

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1

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20 January 2020

author name string

Hiroyuki Sasaki

series ordinal

2

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20 January 2020

publication date

12 January 2012

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Journal of Human Genetics

20 January 2020

published in

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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

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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

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20 January 2020

page(s)

84-91

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https://scigraph.springernature.com/pub.10.1038/jhg.2011.151

20 January 2020

exact match

0 references

cites work

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

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

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

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

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

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De novo DNA methylation: a germ cell perspective.

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

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

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Genomic imprinting disorders in humans: a mini-review

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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

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21 January 2018

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21 January 2018

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21 January 2018

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

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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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

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Cell microarrays and RNA interference chip away at gene function

21 January 2018

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UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

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

21 January 2018

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Prader-Willi syndrome and Angelman syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Genomic imprinting in disruptive spermatogenesis

21 January 2018

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Methylation defects of imprinted genes in human testicular spermatozoa.

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

Aberrant DNA methylation of imprinted loci in superovulated oocytes.

21 January 2018

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Intracytoplasmic sperm injection may increase the risk of imprinting defects

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

Epigenetics and the germline

21 January 2018

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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

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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

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

Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients

21 January 2018

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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

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

7 January 2021

Distinctive chromatin in human sperm packages genes for embryo development

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7 January 2021

Beckwith-Wiedemann syndrome

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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

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7 January 2021

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

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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

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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

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021