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

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.

PloS one - 1 Jan 2013

Beygo Jasmin, Ammerpohl Ole, Gritzan Daniela, Heitmann Melanie, Rademacher Katrin, Richter Julia, Caliebe Almuth, Siebert Reiner, Horsthemke Bernhard, Buiting Karin

Abstract excerpt

NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform moles, spontaneous abortions and stillbirths, whereas live births are very rare. We have studied a patient with multiple anomalies born to a mother with a heterozygous NLRP7 mutation. By array-based CpG methylation analysis of blood DNA from the patient, his parents and 18 normal controls on Illumina Infinium...

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 CpG Islands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genetic Diseases, Inborn

Share to Genetic Loci

Share to Genomic Imprinting

Share to High-Throughput Nucleotide Sequencing

Share to Sulfites

Source

Open in PubMed Open full text

Identifiers

PMID: 24130816
DOI: 10.1371/journal.pone.0076953
PMCID: PMC3793946

Genes

NLRP7

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

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.PMID 24130816Read ↗

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

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

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.Semantic proximity Read ↗

A familial disorder of altered DNA-methylation.Semantic proximity Read ↗

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

Genetic and epigenetic analysis of recurrent hydatidiform mole.Semantic proximity Read ↗

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

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

Using long-read sequencing to detect imprinted DNA methylationSemantic proximity Read ↗

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)Semantic proximity Read ↗

Genome-wide DNA methylation analysis in primary antiphospholipid syndrome neutrophilsSemantic proximity Read ↗

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