ArticleNature genetics2017
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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Who cites it
88 citing papers in PubMed, 158 citations in OpenAlex.
- A MOPD II-associated Pericentrin variant disrupts PACT domain dimerization and pericentriolar material recruitment.bioRxiv : the preprint server for biology · 2026Article
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Proteostasis failure and mitochondrial dysfunction contribute to chromosomal instability-induced microcephaly.Nature communications · 2026Article
- RecessiveDiagnostics (Basel, Switzerland) · 2025Article
- A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.Molecular cytogenetics · 2025Article
- Discovery of novel antimyeloma agents targeting TRIP13 by molecular modeling and bioassay.RSC medicinal chemistry · 2025Article
- Identification of MAD2L1 and BUB1B as Potential Biomarkers Associated with Progression and Prognosis of Ovarian Cancer.Biochemical genetics · 2025Article
- Thyroid hormone receptor interacting protein 13 is associated with prognosis and immunotherapy efficacy in human cancers: a pan-cancer analysis.Discover oncology · 2025Article
- Mitophagy-related gene TRIP13 predicts prognosis and immune response and promotes proliferation and migrationFrontiers in pharmacology · 2025Article
- Mosaic variegated aneuploidy in development, ageing and cancer.Nature reviews. Genetics · 2024Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Article
- Role of TRIP13 in human cancer development.Molecular biology reports · 2024Review
- Identification of a novel splicing variant of thyroid hormone receptor interaction protein 13 (TRIP13) in female infertility characterized by oocyte maturation arrest.Journal of assisted reproduction and genetics · 2024Article
- TRIP13 localizes to synapsed chromosomes and functions as a dosage-sensitive regulator of meiosis.eLife · 2024Article
- Targeting TRIP13 in favorable histology Wilms tumor with nuclear export inhibitors synergizes with doxorubicin.Communications biology · 2024Article
- Hallmark discoveries in the biology of Wilms tumour.Nature reviews. Urology · 2024Review
- Germline specific genes increase DNA double-strand break repair and radioresistance in lung adenocarcinoma cells.Cell death & disease · 2024Article
- Boveri and beyond: Chromothripsis and genomic instability from mitotic errors.Molecular cell · 2024Review
28 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 7 institutions in 3 countries.
Funding
Abstract
Through exome sequencing, we identified six individuals with biallelic loss-of-function mutations in TRIP13. All six developed Wilms tumor. Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of mosaic variegated aneuploidy (MVA) syndrome, were more variably present. Through functional studies, we show that TRIP13-mutant patient cells have no detectable TRIP13 and have substantial impairment of the spindle assembly checkpoint (SAC), leading to a high rate of chromosome missegregation. Accurate segregation, as well as SAC proficiency, is rescued by restoring TRIP13 function. Individuals with biallelic TRIP13 or BUB1B mutations have a high risk of embryonal tumors, and here we show that their cells display severe SAC impairment. MVA due to biallelic CEP57 mutations, or of unknown cause, is not associated with embryonal tumors and cells from these individuals show minimal SAC deficiency. These data provide insights into the complex relationships between aneuploidy and carcinogenesis.
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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.