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Related Concept Videos

Microtubules in Signaling01:22

Microtubules in Signaling

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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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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Mechanism of Ciliary Motion01:05

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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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Renal Tubule and Collecting Duct01:24

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The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Updated: Sep 8, 2025

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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Ciliopathy: Alström Syndrome.

Stephen H Tsang1, Alicia R P Aycinena2, Tarun Sharma3

  • 1Department of Ophthalmology, Columbia University, New York, NY, USA. sht2@cumc.columbia.edu.

Advances in Experimental Medicine and Biology
|July 30, 2025
PubMed
Summary

Alström syndrome is a rare genetic disorder affecting multiple body systems. This condition causes vision and hearing loss, diabetes, heart problems, and liver and kidney failure.

Keywords:
Alström syndromeCiliopathy

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Area of Science:

  • Genetics
  • Endocrinology
  • Ophthalmology
  • Cardiology
  • Nephrology

Background:

  • Alström syndrome is an autosomal recessive genetic disorder.
  • Characterized by multisystemic complications affecting various organs and physiological systems.

Purpose of the Study:

  • To summarize the key features and clinical manifestations of Alström syndrome.
  • To highlight the genetic basis and progressive nature of the disease.

Main Methods:

  • Review of existing literature on Alström syndrome.
  • Analysis of reported clinical cases and genetic studies.

Main Results:

  • Multisystem involvement is a hallmark of Alström syndrome.
  • Key features include cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance, dilated cardiomyopathy, and progressive hepatic and renal failure.

Conclusions:

  • Alström syndrome requires comprehensive management due to its widespread impact.
  • Early diagnosis and multidisciplinary care are crucial for patients with Alström syndrome.