(Q53426545)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

2

1 reference

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21 March 2020

Emma Wakeling

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Michal Patalan

15

1 reference

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21 March 2020

Maria Giżewska

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Julian Hamilton-Shield

22

1 reference

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21 March 2020

Kemi Lokulo-Sodipe

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Rachel Horton

25

1 reference

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21 March 2020

Karen Temple

28

1 reference

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21 March 2020

Deborah Jg Mackay

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

11

Stephanie Kleinle

1 reference

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21 March 2020

author name string

Matthias Begemann

1

1 reference

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21 March 2020

Jasmin Beygo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Louise E Docherty

4

1 reference

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21 March 2020

Julia Kolarova

5

1 reference

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21 March 2020

Christopher Schroeder

6

1 reference

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21 March 2020

Karin Buiting

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kamal Chokkalingam

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Daniela González Fassrainer

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Barbara Oehl-Jaschkowitz

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Claire L S Turner

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Gerhard Binder

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Can Thi Bich Ngoc

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Vu Chi Dung

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Sarju G Mehta

20

1 reference

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21 March 2020

Sara Aljareh

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Miriam Elbracht

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Thomas Eggermann

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Franziska Degenhardt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Gareth Baynam

21

1 reference

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21 March 2020

Reiner Siebert

26

1 reference

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21 March 2020

language of work or name

English

0 references

publication date

24 March 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

21 March 2020

published in

1 reference

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21 March 2020

volume

55

1 reference

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21 March 2020

issue

7

1 reference

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21 March 2020

page(s)

497-504

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

NLRP2 controls age-associated maternal fertility

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Identification of Maturation-Specific Proteins by Single-Cell Proteomics of Human Oocytes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

TLE6 mutation causes the earliest known human embryonic lethality

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Identification of a human subcortical maternal complex

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Reprogramming the genome to totipotency in mouse embryos

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Zygotic genome activation during the maternal-to-zygotic transition

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Transducin-like enhancer of split-6 (TLE6) is a substrate of protein kinase A activity during mouse oocyte maturation.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Zar1 represses translation in Xenopus oocytes and binds to the TCS in maternal mRNAs with different characteristics than Zar2

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Nlrp2, a maternal effect gene required for early embryonic development in the mouse

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Proteome of mouse oocytes at different developmental stages

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Potential role for MATER in cytoplasmic lattice formation in murine oocytes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Evolution and functional divergence of NLRP genes in mammalian reproductive systems

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

A subcortical maternal complex essential for preimplantation mouse embryogenesis

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

UHRF1 plays a role in maintaining DNA methylation in mammalian cells

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Zygote arrest 1 (Zar1) is a novel maternal-effect gene critical for the oocyte-to-embryo transition

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

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

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

A familial disorder of altered DNA-methylation

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6047157

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

30 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes

1 reference

12 December 2020

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

1 reference

12 December 2020

10.1136/JMEDGENET-2017-105190

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

release_zjlmwmduoba5xdiygkedmqfnuy

21 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zjlmwmduoba5xdiygkedmqfnuy

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29574422%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference