Publication: Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies
Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies
Date
Date
Date
Citations
Bachmann-Gagescu, R., & Sayer, J. (2025). Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. Journal of Cell Science, 138, jcs264177. https://doi.org/10.1242/jcs.264177
Abstract
Abstract
Abstract
Primary cilia are crucial cellular organelles with vital roles in signal transduction and cellular function. Disruptions in primary ciliary structure or function underlie a group of genetic disorders known as primary ciliopathies. These disorders present as a diverse range of clinical features with prominent phenotypic variability, often complicating their diagnosis and the basic understanding of their underlying molecular mechanisms. To grasp this complexity, the ciliopathy field is moving from a static view of primary cilia towards
Metrics
Additional indexing
Creators (Authors)
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Other Identification Number
Other Identification Number
Other Identification Number
Metrics
Citations
Bachmann-Gagescu, R., & Sayer, J. (2025). Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. Journal of Cell Science, 138, jcs264177. https://doi.org/10.1242/jcs.264177
