Instruct: Identify the main category of Biorxiv papers based on the titles and abstracts
Query: Clinical mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2 The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal deformation. Motor proteins dynein-2 and kinesin-2 mediate retrograde and anterograde transport in the cilium. WDR34, a dynein-2 intermediate chain, is required for the maintenance of cilia function. Here, we investigated WDR34 mutations identified in Jeune syndrome, Short-rib polydactyly syndrome or Asphyxiating thoracic dysplasia patients by stably expressing the mutant proteins in WDR34 knockout cells. WDR34 mutations led to different spectrums of phenotypes. Each mutation results in a distinct profile of phenotypes. Quantitative proteomics demonstrated changes in dynein-2 assembly, whereas initiation and extension of the axoneme, IFT-B protein localization, transition zone integrity, and Hedgehog signalling were also affected.

Summary statementClinical mutations in WDR34 are found to have diverse impacts on ciliogenesis and cilia function following stable expression in a WDR34 knockout cell model.
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The categories of this paper are: paleontology
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The categories of this paper are: toxicology
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The categories of this paper are: pathology
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The categories of this paper are: developmental
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The categories of this paper are: epidemiology
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The categories of this paper are: and
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The categories of this paper are: microbiology
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The categories of this paper are: biochemistry
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The categories of this paper are: bioengineering
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The categories of this paper are: ecology
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The categories of this paper are: synthetic
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The categories of this paper are: communication
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The categories of this paper are: molecular
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The categories of this paper are: systems
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The categories of this paper are: neuroscience
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The categories of this paper are: evolutionary