Non-motile Ciliopathies of the Kidney

IF 0.2 Q4 Biochemistry, Genetics and Molecular Biology Research Journal of Biotechnology Pub Date : 2023-10-15 DOI:10.25303/1811rjbt2230232
Barani Karikalan, Srikumar Chakravarthi, Prarthana Gopalakrishna Kalerammana
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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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肾脏非运动性纤毛病
我们身体的大多数细胞都有初级纤毛,这是一种特殊的感觉细胞器,存在于顶端表面。它们在组织形成和信号传递中起着至关重要的作用。参与纤毛发育和功能的基因突变导致一组被称为纤毛病的疾病,由纤毛功能障碍引起的器官衰竭定义。许多突变导致肾纤毛病,导致由纤毛功能障碍引起的严重肾脏疾病。本综述的主要重点是一组重叠和遗传异质性疾病,称为纤毛病,特别强调这些疾病的肾脏受累。这些疾病的肾脏受累范围从单纯的无关紧要的肾囊肿到导致疾病早期肾功能衰竭的严重衰弱性肾功能障碍。
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来源期刊
Research Journal of Biotechnology
Research Journal of Biotechnology 工程技术-生物工程与应用微生物
CiteScore
0.60
自引率
0.00%
发文量
192
审稿时长
1.5 months
期刊介绍: We invite you to contribute Research Papers / Short Communications / Review Papers: -In any field of Biotechnology, Biochemistry, Microbiology and Industrial Microbiology, Soil Technology, Agriculture Biotechnology. -in any field related to Food Biotechnology, Nutrition Biotechnology, Genetic Engineering and Commercial Biotechnology. -in any field of Biotechnology related to Drugs and Pharmaceutical products for human beings, animals and plants. -in any field related to Environmental Biotechnolgy, Waste Treatment of Liquids, Soilds and Gases; Sustainability. -in inter-realted field of Chemical Sciences, Biological Sciences, Environmental Sciences and Life Sciences. -in any field related to Biotechnological Engineering, Industrial Biotechnology and Instrumentation. -in any field related to Nano-technology. -in any field related to Plant Biotechnology.
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