ArticleNature communications2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 1 of them a synthesis that pooled it.
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Who cites it
100 citing papers in PubMed, 1 synthesis or guideline pooled it, 199 citations in OpenAlex.
- Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology.Journal of assisted reproduction and genetics · 2018Pooled it
- Review
- Structure of the mouse cytoplasmic lattice.Nature · 2026Article
- Recent advances in neonatal Beckwith-Wiedemann syndrome: from molecular diagnosis to multidisciplinary management-a narrative review.Translational pediatrics · 2026Review
- A simple, efficient, and scalable method to generate oocyte-like cells in vitro.Life science alliance · 2026Article
- FTDC1/2, oocyte-specific cofactors of DNMT1 required for epigenetic regulation and embryonic development.Cell death and differentiation · 2025Article
- Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.Italian journal of pediatrics · 2025Review
- Germline variants inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- The subcortical maternal complex safeguards mouse oocyte-to-embryo transition by preventing nuclear entry of SPIN1.Nature structural & molecular biology · 2025Article
- Maternal loss of mouse Nlrp2 alters the transcriptome and DNA methylome in GV oocytes and impairs zygotic genome activation in embryos.Clinical epigenetics · 2025Article
- Subcortical Maternal Complex in Female Infertility: A Transition from Animal Models to Human Studies.Molecular biology reports · 2025Review
- NLR Risk Score for Predicting Patient Prognosis in Hepatocellular Carcinoma and Identification of Oncogenic Role of NLRP5 in Hepatocellular Carcinoma.Oncology research · 2025Article
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.Nature structural & molecular biology · 2024Article
- The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.Human molecular genetics · 2024Article
- Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.Clinical epigenetics · 2024Review
- Maternal loss-of-function of Nlrp2 results in failure of epigenetic reprogramming in mouse oocytes.Research square · 2024Article
- The NLR family of innate immune and cell death sensors.Immunity · 2024Review
- Structural basis of the subcortical maternal complex and its implications in reproductive disorders.Nature structural & molecular biology · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
40 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 9 institutions in 4 countries.
Funding
Abstract
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 trans-acting mutations have been found. Here we report mutations in NLRP5 in five mothers of individuals affected by multilocus imprinting disturbance. Maternal-effect mutations of other human NLRP genes, NLRP7 and NLRP2, cause familial biparental hydatidiform mole and multilocus imprinting disturbance, respectively. Offspring of mothers with NLRP5 mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage. NLRP5 mutations suggest connections between maternal reproductive fitness, early zygotic development and genomic imprinting.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.