ReviewPediatric nephrology (Berlin, Germany)2013
Current insights into renal ciliopathies: what can genetics teach us?
Review in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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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
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Trial
- Hepatic manifestations of ciliopathies: genetic causes and clinical update.European journal of pediatrics · 2026Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- Whole exome sequencing identified a novel compound heterozygous mutation ofFrontiers in pediatrics · 2026Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies.EMBO molecular medicine · 2025Review
- Article
- Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.BMC medical informatics and decision making · 2024Article
- Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up.Pediatric nephrology (Berlin, Germany) · 2023Article
- Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.Scientific reports · 2022Article
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nature communications · 2022Article
- Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.Molecular syndromology · 2021Article
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
- A Compound Heterozygous Mutation in the Ciliary GeneJournal of pediatric genetics · 2020Article
- Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Article
- Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.Frontiers in genetics · 2019Review
- Urologic Diseases Germane to the Medical Renal Biopsy: Review of a Large Diagnostic Experience in the Context of the Renal Architecture and Its Environs.Advances in anatomic pathology · 2018Review
- Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate.Scientific reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ciliopathies are a group of clinically and genetically overlapping disorders whose etiologies lie in defective cilia. These are antenna-like organelles on the apical surface of numerous cell types in a variety of tissues and organs, the kidney included. Cilia play essential roles during development and tissue homeostasis, and their dysfunction in the kidney has been associated with renal cyst formation and renal failure. Recently, the term "renal ciliopathies" was coined for those human genetic disorders that are characterized by nephronophthisis, cystic kidneys or renal cystic dysplasia. This review focuses on renal ciliopathies from a human genetics perspective. We survey the newest insights with respect to gene identification and genotype-phenotype correlations, and we reflect on candidate ciliopathies. The opportunities and challenges of next-generation sequencing (NGS) for genetic renal research and clinical DNA diagnostics are also reviewed, and we discuss the contribution of NGS to the development of personalized therapy for patients with renal ciliopathies.
Indexed as
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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.