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Article

Current insights into renal ciliopathies: what can genetics teach us?

Pediatric nephrology (Berlin, Germany) - 1 Jun 2013

Arts Heleen H, Knoers Nine V A M

Abstract excerpt

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...

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Share to Cilia
Share to Genetic and Kidney Cyst Diseases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

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Share to Polymorphism, Single Nucleotide

Share to Precision Medicine

Share to Renal Insufficiency

Source

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Identifiers

PMID: 22829176
DOI: 10.1007/s00467-012-2259-9
PMCID: PMC3631122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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