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

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21 March 2020

2

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Emma Wakeling

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Michal Patalan

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21 March 2020

Maria Giżewska

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21 March 2020

Julian Hamilton-Shield

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Kemi Lokulo-Sodipe

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Rachel Horton

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Karen Temple

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Deborah Jg Mackay

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Stephanie Kleinle

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21 March 2020

author name string

Matthias Begemann

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21 March 2020

Jasmin Beygo

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21 March 2020

Louise E Docherty

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Julia Kolarova

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Christopher Schroeder

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21 March 2020

Karin Buiting

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Kamal Chokkalingam

8

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Daniela González Fassrainer

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Barbara Oehl-Jaschkowitz

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Claire L S Turner

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Gerhard Binder

17

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Can Thi Bich Ngoc

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Vu Chi Dung

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Sarju G Mehta

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Sara Aljareh

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Miriam Elbracht

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Thomas Eggermann

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Franziska Degenhardt

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Gareth Baynam

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Reiner Siebert

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language of work or name

English

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publication date

24 March 2018

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Journal of Medical Genetics

21 March 2020

published in

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21 March 2020

volume

55

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21 March 2020

page(s)

497-504

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21 March 2020

issue

7

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

21 March 2020

cites work

1 reference

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

7 September 2018

1 reference

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

7 September 2018

1 reference

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NLRP2 controls age-associated maternal fertility

7 September 2018

1 reference

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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

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Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

7 September 2018

1 reference

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

7 September 2018

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Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

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

7 September 2018

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

7 September 2018

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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

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TLE6 mutation causes the earliest known human embryonic lethality

7 September 2018

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

7 September 2018

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

7 September 2018

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Identification of a human subcortical maternal complex

7 September 2018

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Reprogramming the genome to totipotency in mouse embryos

7 September 2018

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

7 September 2018

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Zygotic genome activation during the maternal-to-zygotic transition

7 September 2018

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

7 September 2018

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

7 September 2018

1 reference

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

7 September 2018

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7 September 2018

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

7 September 2018

1 reference

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

7 September 2018

1 reference

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Proteome of mouse oocytes at different developmental stages

7 September 2018

1 reference

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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

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

7 September 2018

1 reference

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

7 September 2018

1 reference

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

7 September 2018

1 reference

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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

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

7 September 2018

1 reference

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A subcortical maternal complex essential for preimplantation mouse embryogenesis

7 September 2018

1 reference

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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

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21 March 2020

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