ArticleNature communications2019
Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 54 citations in OpenAlex.
- Frameshift Mutations in Exon 1 ofJournal of developmental biology · 2026Article
- Optimizing CRISPR precision in mouse embryos via microhomology-mediated end joining-dominant targeting.Communications biology · 2026Article
- Autosomal Dominant Polycystic Kidney Disease: From Pathogenesis to Organoid Disease Models.Biomedicines · 2025Review
- Non-viral generation of transgenic non-human primates via the piggyBac transposon system.Nature communications · 2025Article
- Coupling of cell shape, matrix and tissue dynamics ensures embryonic patterning robustness.Nature cell biology · 2025Article
- Advances and Challenges in Modeling Autosomal Dominant Polycystic Kidney Disease: A Focus on Kidney Organoids.Biomedicines · 2025Review
- CRISPR-Cas9 system in autosomal dominant polycystic kidney disease: a comprehensive review.Childhood kidney diseases · 2025Review
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Production of a heterozygous exon skipping model of common marmosets using gene-editing technology.Lab animal · 2024Article
- Mechanistic complement of autosomal dominant polycystic kidney disease: the role of aquaporins.Journal of molecular medicine (Berlin, Germany) · 2024Review
- Cross-Species Insights into Autosomal Dominant Polycystic Kidney Disease: Provide an Alternative View on Research Advancement.International journal of molecular sciences · 2024Review
- Comparative analysis of superovulated versus uterine-embryo synchronized recipients for embryo transfer in cynomolgus monkeys (Frontiers in veterinary science · 2024Article
- Generation of a familial hypercholesterolemia model in non-human primate.Scientific reports · 2023Article
- Comparative physiological anthropogeny: exploring molecular underpinnings of distinctly human phenotypes.Physiological reviews · 2023Review
- Article
- Mechanisms of Cyst Development in Polycystic Kidney Disease.Advances in kidney disease and health · 2023Review
- Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey.Frontiers in veterinary science · 2023Article
- A controlled ovarian stimulation procedure suitable for cynomolgus macaques.Experimental animals · 2022Article
- PKD1 and PKD2 mRNA cis-inhibition drives polycystic kidney disease progression.Nature communications · 2022Article
- CRISPR/Cas9 genome editing to create nonhuman primate models for studying stem cell therapies for HIV infection.Retrovirology · 2022Review
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Authors and funding
21 authors at 4 institutions in 1 country.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 mutations is one of the most common hereditary disorders. However, the key pathological processes underlying cyst development and exacerbation in pre-symptomatic stages remain unknown, because rodent models do not recapitulate critical disease phenotypes, including disease onset in heterozygotes. Here, using CRISPR/Cas9, we generate ADPKD models with PKD1 mutations in cynomolgus monkeys. As in humans and mice, near-complete PKD1 depletion induces severe cyst formation mainly in collecting ducts. Importantly, unlike in mice, PKD1 heterozygote monkeys exhibit cyst formation perinatally in distal tubules, possibly reflecting the initial pathology in humans. Many monkeys in these models survive after cyst formation, and cysts progress with age. Furthermore, we succeed in generating selective heterozygous mutations using allele-specific targeting. We propose that our models elucidate the onset and progression of ADPKD, which will serve as a critical basis for establishing new therapeutic strategies, including drug treatments.
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