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Related Concept Videos

Riboswitches01:56

Riboswitches

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Riboswitches are non-coding mRNA domains that regulate the transcription and translation of downstream genes without the help of proteins. Riboswitches bind directly to a metabolite and can form unique stem-loop or hairpin structures in response to the amount of the metabolite present. They have two distinct regions – a metabolite-binding aptamer and an expression platform.
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
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Glucose Transporters01:27

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Related Experiment Video

Updated: Jun 26, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
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Thiamine-responsive megaloblastic anaemia.

Vimal Mavila Veetil1, Divya Pachat1, K Nikitha1

  • 1Aster MIMS, Kozhikode, Kerala, India.

The National Medical Journal of India
|May 17, 2024
PubMed
Summary

Thiamine-responsive megaloblastic anaemia is a rare genetic disorder. Early diagnosis and thiamine supplementation can improve diabetes and anemia, but vision loss may be irreversible.

Area of Science:

  • Genetics
  • Endocrinology
  • Hematology
  • Ophthalmology

Background:

  • Syndromic diabetes mellitus can present with complex symptoms beyond hyperglycemia.
  • Thiamine-responsive megaloblastic anaemia (TRMA) is an inherited disorder affecting thiamine transport.
  • TRMA can manifest with anemia, diabetes mellitus, and sensorineural deafness or optic neuropathy.

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