Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of human genetics : EJHG - 1 Aug 2017

Soellner Lukas, Begemann Matthias, Degenhardt Franziska, Geipel Annegret, Eggermann Thomas, Mangold Elisabeth

Abstract excerpt

It has been shown previously that homozygous and compound-heterozygous variants affecting protein function in the human NLRP genes impact reproduction and/or fetal imprinting patterns. These variants represent so-called 'maternal effect mutations', that is, although female variant carriers are healthy, they are at risk of reproductive failure, and their offspring may develop aberrant methylation and imprinting...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Fetal Death

Share to Genomic Imprinting

Share to Infant, Newborn

Share to Infant, Premature

Share to Pregnancy

Source

Open in PubMed Open full text

Identifiers

PMID: 28561018
DOI: 10.1038/ejhg.2017.94
PMCID: PMC5567160

Genes

NLRP7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.PMID 28561018Read ↗

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.Semantic proximity Read ↗

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.Semantic proximity Read ↗

Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.Semantic proximity Read ↗

NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.Semantic proximity Read ↗

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.Semantic proximity Read ↗

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringSemantic proximity Read ↗

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.Semantic proximity Read ↗

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.Semantic proximity Read ↗

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

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

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.Semantic proximity Read ↗

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.