ArticleKidney international2014
Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis.
Article in Kidney international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Genetic and environmental factors associated with alteration of filtration slit proteins and their functions: a scoping review.Frontiers in nephrology · 2025Pooled it
- Novel Truncating Variants inGenes · 2025Article
- The mechanism of enterogenous toxin methylmalonic acid aggravating calcium-phosphorus metabolic disorder in uremic rats by regulating the Wnt/β-catenin pathway.Molecular medicine (Cambridge, Mass.) · 2025Article
- Article
- Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.Molecular genetics & genomic medicine · 2021Article
- Genetic Disorders of the Glomerular Filtration Barrier.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Kidney Organoids as Disease Models: Strengths, Weaknesses and Perspectives.Frontiers in physiology · 2020Review
- Forward genetic screen in human podocytes identifies diphthamide biosynthesis genes as regulators of adhesion.American journal of physiology. Renal physiology · 2019Article
- Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Pediatric nephrology (Berlin, Germany) · 2019Review
- The Search for Biomarkers to Aid in Diagnosis, Differentiation, and Prognosis of Childhood Idiopathic Nephrotic Syndrome.Frontiers in pediatrics · 2019Review
- Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models.Translational research : the journal of laboratory and clinical medicine · 2018Article
- CRISPR Gene Editing in the Kidney.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018Review
- Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2018Review
- Experimental Models to Study Podocyte Biology: Stock-Taking the Toolbox of Glomerular Research.Frontiers in pediatrics · 2018Review
- Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.Experimental & molecular medicine · 2017Article
- Gene-Edited Human Kidney Organoids Reveal Mechanisms of Disease in Podocyte Development.Stem cells (Dayton, Ohio) · 2017Article
- Patient Engagement in Kidney Research: Opportunities and Challenges Ahead.Canadian journal of kidney health and disease · 2017Review
- Role of CD34 family members in lumen formation in the developing kidney.Developmental biology · 2016Article
- Modelling kidney disease with CRISPR-mutant kidney organoids derived from human pluripotent epiblast spheroids.Nature communications · 2015Article
- Modeling Kidney Disease with iPS Cells.Biomarker insights · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Our understanding of focal and segmental glomerulosclerosis (FSGS) has advanced significantly from the studies of rare, monogenic forms of the disease. These studies have demonstrated the critical roles of multiple aspects of podocyte function in maintaining glomerular function. A substantial body of research has suggested that the integral membrane protein podocalyxin (PODXL) is required for proper functioning of podocytes, possibly by preserving the patency of the slit diaphragm by negative charge-based repulsion. Exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R, affecting the transmembrane region of the protein. Of the remaining 11 shared gene variants, two segregated with disease, but their gene products were not detected in the glomerulus. In comparison with wild type, this disease-segregating PODXL variant facilitated dimerization. By contrast, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin. Thus, a variant form of PODXL remains the most likely candidate causing FSGS in one family with autosomal dominant inheritance, but its full effect on protein function remains unknown. Our work highlights the challenge faced in the clinical interpretation of whole-exome data for small pedigrees with autosomal dominant diseases.
Indexed as
Identifiers
What OpenQuestion holds
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.