ArticleExperimental & molecular medicine2017
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.
Article in Experimental & molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- Gut Microbiota-Derived Extracellular Vesicles in Cancer: Friends or Foes?Probiotics and antimicrobial proteins · 2026Review
- Structural and Dynamic Insights into Podocalyxin-Ezrin Interaction as a Target in Cancer Progression.Journal of xenobiotics · 2026Article
- Novel Truncating Variants inGenes · 2025Article
- Effects and mechanism of Rictor interference in podocyte injury induced by high glucose.Experimental and therapeutic medicine · 2023Article
- Kidney Organoid Derived from Human Pluripotent and Adult Stem Cells for Disease Modeling.Development & reproduction · 2023Article
- Spatial regulation of the glycocalyx component podocalyxin is a switch for prometastatic function.Science advances · 2023Article
- Targeting a Tumor-Specific Epitope on Podocalyxin Increases Survival in Human Tumor Preclinical Models.Frontiers in oncology · 2022Article
- Renal cell markers: lighthouses for managing renal diseases.American journal of physiology. Renal physiology · 2021Article
- The proteomic architecture of schizophrenia iPSC-derived cerebral organoids reveals alterations in GWAS and neuronal development factors.Translational psychiatry · 2021Article
- Glycocalyx Curving the Membrane: Forces Emerging from the Cell Exterior.Annual review of cell and developmental biology · 2021Review
- Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.Molecular genetics & genomic medicine · 2021Article
- Genotype and Phenotype Analyses in Pediatric Patients withJournal of clinical medicine · 2020Article
- Review
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
- The Utility of Human Kidney Organoids in Modeling Kidney Disease.Seminars in nephrology · 2020Review
- Transcriptional profiling of murine retinas undergoing semi-synchronous cone photoreceptor differentiation.Developmental biology · 2019Article
- Podocalyxin is required for maintaining blood-brain barrier function during acute inflammation.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Diagnostic and Management Challenges in Congenital Nephrotic Syndrome.Pediatric health, medicine and therapeutics · 2019Review
- Applications of kidney organoids derived from human pluripotent stem cells.The Korean journal of internal medicine · 2018Review
- CRISPR Gene Editing in the Kidney.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent. This set of symptoms strikingly mimics previously reported mouse Podxl
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