ArticleAmerican journal of human genetics2022
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers.
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105 citing papers in PubMed, 159 citations in OpenAlex.
- Endothelial dysfunction: A central mechanism linking autosomal dominant polycystic kidney disease and intracranial aneurysms (Review).International journal of molecular medicine · 2026Review
- 'Missing' disease-causing variants in Alport syndrome.Nature reviews. Nephrology · 2026Review
- Genetically supported drug target prioritization for rare diseases.Genome medicine · 2026Article
- Bridging structure and function: artificial intelligence-based modelling of kidney proteins.Nature reviews. Nephrology · 2026Review
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.Global medical genetics · 2026Review
- Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.Clinical journal of the American Society of Nephrology : CJASN · 2026Observational
- UFL1-mediated UFMylation antagonizes IFT88 ubiquitination and degradation to maintain ciliary homeostasis.Cell death and differentiation · 2026Article
- COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.Genome medicine · 2026Article
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- The Genomic Infinity Loop.Journal of the American Society of Nephrology : JASN · 2026Article
- Article
- Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2026Article
- ift140 -Deficient Zebrafish as a Model for Kidney Cystogenesis and an F0-Based Screen for Genetic Modifiers of Kidney Cysts.Journal of the American Society of Nephrology : JASN · 2026Article
- An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease.European journal of human genetics : EJHG · 2026Article
- Article
- The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR.International journal of molecular sciences · 2026Review
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
45 more citing papers are in PubMed but not listed here.
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29 authors at 15 institutions in 8 countries.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are the common loci (∼78% and ∼15% of families) and GANAB, DNAJB11, and ALG9 are minor genes. PKD is a ciliary-associated disease, a ciliopathy, and many syndromic ciliopathies have a PKD phenotype. In a multi-cohort/-site collaboration, we screened ADPKD-diagnosed families that were naive to genetic testing (n = 834) or for whom no PKD1 and PKD2 pathogenic variants had been identified (n = 381) with a PKD targeted next-generation sequencing panel (tNGS; n = 1,186) or whole-exome sequencing (WES; n = 29). We identified monoallelic IFT140 loss-of-function (LoF) variants in 12 multiplex families and 26 singletons (1.9% of naive families). IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of membrane proteins; bi-allelic IFT140 variants cause the syndromic ciliopathy, short-rib thoracic dysplasia (SRTD9). The distinctive monoallelic phenotype is mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Analyses of the cystic kidney disease probands of Genomics England 100K showed that 2.1% had IFT140 LoF variants. Analysis of the UK Biobank cystic kidney disease group showed probands with IFT140 LoF variants as the third most common group, after PKD1 and PKD2. The proximity of IFT140 to PKD1 (∼0.5 Mb) in 16p13.3 can cause diagnostic confusion, and PKD1 variants could modify the IFT140 phenotype. Importantly, our studies link a ciliary structural protein to the ADPKD spectrum.
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