Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans (Q36055767)

11 August 2017

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans (English)

1 reference

11 August 2017

2

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1 June 2020

Julian Hamilton-Shield

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1 June 2020

Michal Patalan

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1 June 2020

Maria Giżewska

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Emma Baple

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1 June 2020

Karen Temple

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1 June 2020

Deborah Jg Mackay

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Eamonn R Maher

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Jarosław Peregud-Pogorzelski

1 June 2020

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Jaroslaw Peregud-Pogorzelski

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1 June 2020

author name string

Louise E Docherty

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1 June 2020

Rebecca L Poole

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1 June 2020

Claire L S Turner

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1 June 2020

Emma Kivuva

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1 June 2020

Sarah F Smithson

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Jasmin Beygo

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1 June 2020

Bernhard Horsthemke

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1 June 2020

Lukas Soellner

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1 June 2020

Matthias Begemann

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1 June 2020

Thomas Eggermann

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1 June 2020

Sahar Mansour

19

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1 June 2020

Karin Buiting

13

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1 June 2020

language of work or name

English

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publication date

1 September 2015

1 reference

11 August 2017

Nature Communications

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1 June 2020

volume

6

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1 June 2020

page(s)

8086

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Creative Commons Attribution 4.0 International

1 June 2020

copyright license

start time

1 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Identification of a human subcortical maternal complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Pre- and postovulatory aging of murine oocytes affect the transcript level and poly(A) tail length of maternal effect genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

DNA methylation dynamics of the human preimplantation embryo

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

The role of genomic imprinting in biology and disease: an expanding view

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

The specification of imprints in mammals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

The road to maturation: somatic cell interaction and self-organization of the mammalian oocyte

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Epigenetic disturbances in in vitro cultured gametes and embryos: implications for human assisted reproduction.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

An atypical case of hypomethylation at multiple imprinted loci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Maternal depletion of NLRP5 blocks early embryogenesis in rhesus macaque monkeys (Macaca mulatta).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

A subcortical maternal complex essential for preimplantation mouse embryogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

The Nod-like receptor (NLR) family: a tale of similarities and differences

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Imprinting errors and developmental asymmetry

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Mater, a maternal effect gene required for early embryonic development in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

A global disorder of imprinting in the human female germ line

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4568303

A familial disorder of altered DNA-methylation

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/NCOMMS9086

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26323243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26323243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS9086

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26323243 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

ADS bibcode

2015NatCo...6.8086D

0 references

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26323243 AND SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

26323243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26323243 AND SRC:MED&resulttype=core&format=json