ArticleAmerican journal of human genetics2008
Renal aplasia in humans is associated with RET mutations.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 186 citations in OpenAlex.
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- Bilateral renal and bladder agenesis with exceptional survival without prenatal intervention: a case report.Frontiers in pediatrics · 2026Article
- Renal dysplasia development and chronic kidney disease.Pediatric research · 2025Review
- Engineering kidney developmental trajectory using culture boundary conditions.Nature communications · 2025Article
- Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs.Communications biology · 2025Article
- Glial cell line-derived neurotrophic factor and its role in attenuating renal fibrosis: a review.The Korean journal of internal medicine · 2025Review
- Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.Cells · 2024Review
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- The function of miRNAs in the process of kidney development.Non-coding RNA research · 2023Review
- Congenital anomalies of the kidney and urinary tract: defining risk factors of disease progression and determinants of outcomes.Pediatric nephrology (Berlin, Germany) · 2023Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- RET receptor signaling: Function in development, metabolic disease, and cancer.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2022Review
- Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.Journal of developmental biology · 2021Article
- Generation of patterned kidney organoids that recapitulate the adult kidney collecting duct system from expandable ureteric bud progenitors.Nature communications · 2021Article
- A coordinated progression of progenitor cell states initiates urinary tract development.Nature communications · 2021Article
- Ret signaling in ureteric bud epithelial cells controls cell movements, cell clustering and bud formation.Development (Cambridge, England) · 2021Article
- Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.Journal of clinical medicine · 2020Article
- Whole genome sequencing and novel candidate genes for CAKUT and altered nephrogenesis in the HSRA rat.Physiological genomics · 2020Article
- Developmental pathology of congenital kidney and urinary tract anomalies.Clinical kidney journal · 2019Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In animal models, kidney formation is known to be controlled by the proteins RET, GDNF, and GFRA1; however, no human studies to date have shown an association between abnormal kidney development and mutation of these genes. We hypothesized that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutations in RET, GDNF, or GFRA1. We assayed for mutations in these genes in 33 stillborn fetuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal dysplasia (4 subjects). Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. In two fetuses, there were two different RET mutations found, and a total of ten different sequence variations were identified. We also investigated whether these mutations affected RET activation; in each case, RET phosphorylation was either absent or constitutively activated. A GNDF mutation was identified in only one fetus with unilateral agenesis; this subject also had two RET mutations. No GFRA1 mutations were seen in any fetuses. These data suggest that in humans, mutations in RET and GDNF may contribute significantly to abnormal kidney development.
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