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Article

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

Nature communications - 1 Sept 2015

Docherty Louise E, Rezwan Faisal I, Poole Rebecca L, Turner Claire L S, Kivuva Emma, Maher Eamonn R, Smithson Sarah F, Hamilton-Shield Julian P, Patalan Michal, Gizewska Maria, Peregud-Pogorzelski Jaroslaw, Beygo Jasmin, Buiting Karin, Horsthemke Bernhard, Soellner Lukas, Begemann Matthias, Eggermann Thomas, Baple Emma, Mansour Sahar, Temple I Karen, Mackay Deborah J G

Abstract excerpt

Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of disturbance of multiple imprinted loci, for which few causative...

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Source

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Identifiers

PMID: 26323243
DOI: 10.1038/ncomms9086
PMCID: PMC4568303

Genes

NLRP5
NLRP2
NLRP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.PMID 26323243Read ↗

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

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequencesSemantic proximity Read ↗

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

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.Semantic proximity Read ↗

NLRPs, the subcortical maternal complex and genomic imprinting.Semantic proximity Read ↗

Syndromic Disorders Caused by Disturbed Human ImprintingSemantic proximity Read ↗

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

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

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

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.Semantic proximity Read ↗

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