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The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
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The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
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The cadherins were one of the first cell adhesion molecules discovered; the term “cadherins”   is based on their calcium-dependent adhering properties. The first cadherins discovered on the epithelial, neuronal, and placental cells were named E-cadherin, P-cadherin, and N-cadherin, respectively. These classical cadherins share sequence and structural similarities. Other cadherins, including those involved in cell signaling, are grouped into non-classical cadherins. This...
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Using Primary Neurosphere Cultures to Study Primary Cilia
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[Cellular primary cilia and human diseases].

Jie Liu1, Jie Xu1, Qian Chen1

  • 1Department of Biochemistry and Molecular Biology; Molecular Medicine and Cancer Research Center; College of Basic Medicine, Chongqing Medical University, Chongqing 400016, China.

Sheng Li Xue Bao : [Acta Physiologica Sinica]
|December 28, 2021
PubMed
Summary
This summary is machine-generated.

Primary cilia are vital organelles regulating cell functions. Mutations in cilia genes cause ciliopathies, affecting multiple organs and systems with diverse symptoms, offering therapeutic insights.

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Area of Science:

  • Cell Biology
  • Genetics
  • Developmental Biology

Background:

  • The primary cilium is a conserved organelle on mammalian cells, crucial for cellular processes like proliferation, differentiation, and signal transduction.
  • Ciliopathies are a group of genetic disorders resulting from mutations in genes encoding primary cilia structural or accessory proteins.
  • These disorders manifest with variable and overlapping symptoms across multiple organs and systems.

Purpose of the Study:

  • To review the impact of ciliopathy-associated gene mutations on various organs.
  • To elucidate the molecular mechanisms underlying these effects.
  • To provide insights into potential therapeutic strategies for ciliopathies.

Main Methods:

  • Literature review focusing on ciliopathies and associated gene mutations.
  • Analysis of molecular mechanisms linking gene mutations to organ-specific phenotypes.
  • Synthesis of current knowledge on therapeutic approaches.

Main Results:

  • Gene mutations affecting primary cilia impact bone, teeth, skin, liver, bile ducts, kidneys, brain, retina, and heart.
  • Detailed molecular pathways are identified for these organ-specific manifestations.
  • The review highlights the complex, multi-systemic nature of ciliopathies.

Conclusions:

  • Ciliopathies represent a significant challenge due to their multi-organ involvement and complex symptomatology.
  • Understanding the molecular basis of these disorders is key to developing targeted therapies.
  • Further research into ciliopathy mechanisms may reveal novel therapeutic avenues.