Ciliopathy is a genetic disorder that affects the cilia itself or the cilia sub-structures or the ciliary function. Cilia are microtubule-based organelle found on most eukaryotic cells that can be further classified into motile and non-motile cilia. Therefore, proper functioning and regulation of cilia (both motile and non-motile) is critical to well-being. At the same time, ciliary dysfunction has a profound impact on many cellular and physiological processes affecting most organ systems of the body and resulted in a diverse pathology ranging from developmental (for instance, left-right asymmetry, situs inversus and polycystic kidney disease etc.) to degenerative disorder (for instance, retinal dystrophy and spinocerebellar ataxia etc.). However, despite the growing number of manuscripts acknowledging the importance of cilia, the actual physiological function of cilia in most tissues remains unclear.
Ciliopathies' genetic basis and molecular mechanism are complex as multiple protein complexes or networks orchestrating these ciliary functions. Therefore, researchers have undertaken genetic and mechanistic studies of ciliopathies to understand their molecular mechanisms better. Therefore, it is important to summarize and consolidate the current knowledge and novel findings on ciliopathies to get a bigger picture for putting our effort into some critical issues and thrusting the discoveries and advancement.
In this Research Topic, we focus on the genetics and mechanism of ciliopathies. We welcome any original manuscripts and review papers that provide novel evidence as well as summarize existing data on ciliary pathology, some potential topics including but not limited to:
• The identification and characterization of a novel gene(s) involved in ciliary pathology
• Regulation, functions and/or mechanism of the ciliary gene(s) or protein(s) involved in a wide range of ciliopathies
• Signaling pathways involved in ciliopathies
• Recent developments in the diagnosis of ciliary diseases and other genetic diseases with the implications of cilia.
• Transcriptomic and/or proteomic investigations on ciliary diseases;
• Integrative analysis of publicly available data supported by experimental validation and providing insights into gene/protein function and/or disease biology to warrant further investigations.
Ciliopathy is a genetic disorder that affects the cilia itself or the cilia sub-structures or the ciliary function. Cilia are microtubule-based organelle found on most eukaryotic cells that can be further classified into motile and non-motile cilia. Therefore, proper functioning and regulation of cilia (both motile and non-motile) is critical to well-being. At the same time, ciliary dysfunction has a profound impact on many cellular and physiological processes affecting most organ systems of the body and resulted in a diverse pathology ranging from developmental (for instance, left-right asymmetry, situs inversus and polycystic kidney disease etc.) to degenerative disorder (for instance, retinal dystrophy and spinocerebellar ataxia etc.). However, despite the growing number of manuscripts acknowledging the importance of cilia, the actual physiological function of cilia in most tissues remains unclear.
Ciliopathies' genetic basis and molecular mechanism are complex as multiple protein complexes or networks orchestrating these ciliary functions. Therefore, researchers have undertaken genetic and mechanistic studies of ciliopathies to understand their molecular mechanisms better. Therefore, it is important to summarize and consolidate the current knowledge and novel findings on ciliopathies to get a bigger picture for putting our effort into some critical issues and thrusting the discoveries and advancement.
In this Research Topic, we focus on the genetics and mechanism of ciliopathies. We welcome any original manuscripts and review papers that provide novel evidence as well as summarize existing data on ciliary pathology, some potential topics including but not limited to:
• The identification and characterization of a novel gene(s) involved in ciliary pathology
• Regulation, functions and/or mechanism of the ciliary gene(s) or protein(s) involved in a wide range of ciliopathies
• Signaling pathways involved in ciliopathies
• Recent developments in the diagnosis of ciliary diseases and other genetic diseases with the implications of cilia.
• Transcriptomic and/or proteomic investigations on ciliary diseases;
• Integrative analysis of publicly available data supported by experimental validation and providing insights into gene/protein function and/or disease biology to warrant further investigations.
