Ciliopathies: Genetic Disorders Involving Primary Cilia leaf node


URI

https://openalex.org/T11412

Label

Ciliopathies: Genetic Disorders Involving Primary Cilia

Description

This cluster of papers focuses on ciliopathies, a group of genetic disorders involving defects in primary cilia structure and function. It covers a range of topics including polycystic kidney disease, intraflagellar transport, hedgehog signaling, Bardet–Biedl syndrome, nephronophthisis, and the role of ciliary proteins. The research aims to understand the genetic mechanisms and signaling pathways underlying these disorders.

Implementation

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    skos:definition "This cluster of papers focuses on ciliopathies, a group of genetic disorders involving defects in primary cilia structure and function. It covers a range of topics including polycystic kidney disease, intraflagellar transport, hedgehog signaling, Bardet–Biedl syndrome, nephronophthisis, and the role of ciliary proteins. The research aims to understand the genetic mechanisms and signaling pathways underlying these disorders."@en ;
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    openalex:cited_by_count 743378 ;
    openalex:works_count 39813 .