ArticleEuropean journal of human genetics : EJHG2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Hepatic manifestations of ciliopathies: genetic causes and clinical update.European journal of pediatrics · 2026Review
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Nature reviews. Nephrology · 2026Review
- Integration of Machine Learning-Based Pathogenicity Prediction and Phenotype Matching Improves Variant Prioritization in Rare Clinical Testing.Current issues in molecular biology · 2026Article
- Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant.Genetics and molecular biology · 2026Article
- Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.Clinical science (London, England : 1979) · 2025Article
- Case report of a child with nephronophthisis from South Africa.BMC pediatrics · 2024Article
- Article
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
- Agonists of prostaglandin EProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing.Kidney international reports · 2022Article
- Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.Orphanet journal of rare diseases · 2022Article
- Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Molecular genetics & genomic medicine · 2021Article
- A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.Human mutation · 2021Article
- Review
- Splicing in the Diagnosis of Rare Disease: Advances and Challenges.Frontiers in genetics · 2021Review
- Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.BMC nephrology · 2020Article
- Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
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Authors and funding
15 authors at 7 institutions in 3 countries.
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Abstract
The majority of multi-exon genes undergo alternative splicing to produce different mRNA transcripts and this may occur in a tissue-specific manner. Assessment of mRNA transcripts isolated from blood samples may sometimes be unhelpful in determining the affect on function of putative splice-site variants affecting kidney-specific mRNA transcripts. Here we present data demonstrating the power of using human urine-derived renal epithelial cells (hUREC) as a source of kidney RNA. We report clinical and molecular genetic data from three affected cases from two families all with end-stage renal disease by 15 years of age. In both families, heterozygous variants which are predicted to effect function in NPHP3 were found on one allele, in combination with a synonymous SNV (c.2154C>T; p.Phe718=), 18 base pairs from the exon-intron boundary within exon 15 of NPHP3. The only mRNA transcript amplified from wild-type whole blood showed complete splicing out of exon 15. Urine samples obtained from control subjects and the father of family 2, who carried the synonymous SNV variant, were therefore used to culture hUREC and allowed us to obtain kidney-specific mRNA. Control kidney mRNA showed retention of exon 15, while the mRNA from the patient's father confirmed evidence of a heterozygous alternate splicing of exon 15 of NPHP3. Analysis of RNA derived from hUREC allows for a comparison of kidney-specific and whole-blood RNA transcripts and for assessment of the effect on function of putative splice variants leading to end-stage kidney disease.
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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.