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

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Human mutation - 1 Jul 2007

Qian Jinhua, Deveault Catherine, Bagga Rashmi, Xie Xing, Slim Rima

Abstract excerpt

Familial recurrent hydatidiform moles are a rare recessive condition in which molar tissues have biparental contribution to their genome. One maternal locus responsible for this condition has been mapped to 19q13.4 and the causative gene, NALP7, identified (HUGO-approved nomenclature is now NLRP7). Here we report a first stop codon, c.295G>T (p.Glu99X) and a missense mutation, c.1970A>T (p.Asp657Val) in NLRP7 in...

Read the complete abstract on PubMed

Topics

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

Share to Abortion, Spontaneous
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 19

Share to Codon, Terminator

Share to DNA Primers

Share to Hydatidiform Mole

Share to Pregnancy

Share to Spermatogenesis

Source

Identifiers

PMID: 17579354
DOI: 10.1002/humu.9498

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

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.PMID 17579354Read ↗

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

The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes.Semantic proximity Read ↗

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

Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage?Semantic proximity Read ↗

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.Semantic proximity Read ↗

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.Semantic proximity Read ↗

Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles.Semantic proximity Read ↗

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.Semantic proximity Read ↗

A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure.Semantic proximity Read ↗

The genetics of hydatidiform moles: new lights on an ancient disease.Semantic proximity Read ↗

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.Semantic proximity Read ↗

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