Journal: Nephron - Manuscript Submission Deadline: Closed
Renal ciliopathies are a clinically and genetically heterogeneous group of disorders with widely varying manifestations, from in utero symptoms to clinically silent disease until adulthood. The group includes autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, medullary cystic kidney disease, as well as less frequent cilia-related disorders.
The goal of this Call for Papers is to dedicate an article collection to emerging insights on cystic kidney disease phenotypes and the underlying genetic and epigenetic determinants. We will consider original research articles, brief reports, case reports, and review articles focusing on, but not strictly limited to, the following topics:
Topics of particular interest are:
- Identification of novel and/or complex genetic abnormalities in renal ciliopathies
- Epigenetic mechanisms in the pathogenesis of PKD
- Novel findings exploring the relation between genotype and disease phenotype
- Description of novel ciliopathy syndromes
- Cohort studies describing the impact of genetic background on the response to therapies
- In vitro and in vivo models to validate and characterize candidate ciliopathy genes and to test new therapies
Please select the option Call for Papers: Genetics and Epigenetics of Renal Ciliopathies when submitting your manuscript and mention this Call for Papers in your cover letter.
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