{"title":"Non-motile Ciliopathies of the Kidney","authors":"Barani Karikalan, Srikumar Chakravarthi, Prarthana Gopalakrishna Kalerammana","doi":"10.25303/1811rjbt2230232","DOIUrl":null,"url":null,"abstract":"Most cells of our body have primary cilia, which are specialised sensory organelles that are present on the apical surface. They have been proven to perform critical roles in tissue formation and signal transmission. Mutations of the genes involved in development and functioning of the cilia result in a group of diseases called as ciliopathies which are defined by organ failure caused by ciliary dysfunction. Numerous mutations result in renal ciliopathies that result in severe kidney diseases caused by ciliary dysfunction. The main emphasis of this review to set of overlapping and genetically heterogeneous disorders called ciliopathies with special emphasis on the renal involvement of these diseases. Renal involvement in these diseases ranges from a simple insignificant renal cyst to severe debilitating renal dysfunction resulting in renal failure in the early stage of the disease.","PeriodicalId":21091,"journal":{"name":"Research Journal of Biotechnology","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2023-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research Journal of Biotechnology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25303/1811rjbt2230232","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
Abstract
Most cells of our body have primary cilia, which are specialised sensory organelles that are present on the apical surface. They have been proven to perform critical roles in tissue formation and signal transmission. Mutations of the genes involved in development and functioning of the cilia result in a group of diseases called as ciliopathies which are defined by organ failure caused by ciliary dysfunction. Numerous mutations result in renal ciliopathies that result in severe kidney diseases caused by ciliary dysfunction. The main emphasis of this review to set of overlapping and genetically heterogeneous disorders called ciliopathies with special emphasis on the renal involvement of these diseases. Renal involvement in these diseases ranges from a simple insignificant renal cyst to severe debilitating renal dysfunction resulting in renal failure in the early stage of the disease.
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