ArticleEuropean journal of human genetics : EJHG2016
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Molecular Basis of Hydatidiform Moles-A Systematic Review.International journal of molecular sciences · 2024Pooled it
- The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.Journal of human genetics · 2026Observational
- Article
- High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles withBalkan journal of medical genetics : BJMG · 2023Article
- Recurrent Hydatidiform Moles: A Clinical Challenge-A Case Report and an Update on Management and Therapeutical Strategies.Case reports in obstetrics and gynecology · 2023Article
- The L1-dependant and Pol III transcribed Alu retrotransposon, from its discovery to innate immunity.Molecular biology reports · 2021Review
- NLRP7 plays a functional role in regulating BMP4 signaling during differentiation of patient-derived trophoblasts.Cell death & disease · 2020Article
- NLRP7 is expressed in the ovine ovary and associated with in vitro pre-implantation embryo development.Reproduction (Cambridge, England) · 2019Article
- A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure.International journal of fertility & sterility · 2019Article
- Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.Journal of medical genetics · 2019Review
- Identification of mutations inHuman genome variation · 2018Article
- A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
22 authors at 15 institutions in 8 countries.
Funding
Abstract
NLRP7 is a major gene responsible for recurrent hydatidiform moles. Here, we report 11 novel NLRP7 protein truncating variants, of which five deletions of more than 1-kb. We analyzed the transcriptional consequences of four variants. We demonstrate that one large homozygous deletion removes NLRP7 transcription start site and results in the complete absence of its transcripts in a patient in good health besides her reproductive problem. This observation strengthens existing data on the requirement of NLRP7 only for female reproduction. We show that two other variants affecting the splice acceptor of exon 6 lead to its in-frame skipping while another variant affecting the splice donor site of exon 9 leads to an in-frame insertion of 54 amino acids. Our characterization of the deletion breakpoints demonstrated that most of the breakpoints occurred within Alu repeats and the deletions were most likely mediated by microhomology events. Our data define a hotspot of Alu instability and deletions in intron 5 with six different breakpoints and rearrangements. Analysis of NLRP7 genomic sequences for repetitive elements demonstrated that Alu repeats represent 48% of its intronic sequences and these repeats seem to have been inserted into the common NLRP2/7 primate ancestor before its duplication into two genes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.