Instruct: Identify the main category of Biorxiv papers based on the titles and abstracts
Query: Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy Centronuclear myopathy (CNM) is characterized clinically by muscle weakness and pathologically by the presence of centralized nuclei and disarrangement of T-tubules in muscle fibers. DNM2 which encodes a large GTPase dynamin 2 have been identified as a causative gene for CNM. Nevertheless, the identification of DNM2 variants may not always lead to the definitive diagnosis as their pathogenicity is often unknown.

In this study, by imaging T-tubule-like structures reconstituted in cellulo, we demonstrated that aberrant membrane remodeling by mutant dynamin 2 is tightly associated with gain-of-function features of DNM2 variants. This simple in cellulo assay provided quantitative data required for accurately evaluating pathogenicity of reported and novel DNM2 variants identified from CNM patients in our cohort. Our approaches combining the in cellulo assay with clinical information of the patients enabled to explain the course of a disease progression by pathogenesis of each variant in DNM2-associated CNM.
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The categories of this paper are: cancer
30
The categories of this paper are: scientific
4
The categories of this paper are: neuroscience
9
The categories of this paper are: synthetic
7
The categories of this paper are: ecology
25
The categories of this paper are: bioengineering
11
The categories of this paper are: cognition
32
The categories of this paper are: zoology
14
The categories of this paper are: biophysics
1
The categories of this paper are: bioinformatics
12
The categories of this paper are: behavior
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The categories of this paper are: microbiology
13
The categories of this paper are: animal
29
The categories of this paper are: education
31
The categories of this paper are: paleontology
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The categories of this paper are: biochemistry