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In Vivo modellering af Morbid Human Genome hjælp Danio rerio
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Biology
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JoVE Journal Biology
In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo modellering af Morbid Human Genome hjælp Danio rerio

DOI:
10.3791/50338-v

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12:31 min

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August 24, 2013

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, , , , ,
1Center for Human Disease Modeling, Department of Cell Biology,Duke University Medical Center, 2Department of Evolutionary Anthropology,Duke University, 3Department of Pediatrics,Duke University Medical Center

Chapters

  • 00:05Title
  • 01:20Bioinformatics and Expressions Analysis in the Developing Zebrafish Embryo
  • 02:27Site-directed Mutagenesis and in vitro mRNA Transcription
  • 03:54In vivo Assay of Variant Loss of Function
  • 06:40In vivo Assay of Variant Dominant Negative or Gain of Function Effects
  • 08:11Representative MO Knockdown and Rescue Results
  • 12:06Conclusion

Summary

Automatic Translation

Automatic Translation

Her præsenterer vi en systematisk tilgang til udvikling af fysiologisk relevant, sensitiv og specifik<em> In vivo</em> Assays til tolkning variation i human patologi. Forbigående genetisk manipulation via mikroinjektion af WT og mutant menneskelige mRNA og morpholinogrupper (MO) antisenseoligonukleotider udnytte sporbarhed i udviklingslandene zebrafisk embryonet til hurtigt assay patogene mutationer, især, men ikke udelukkende, i forbindelse med humane udviklingsforstyrrelser.

Tags

ZebrafishIn Vivo ModelingHuman GenomeNonsynonymous ChangesComplementationMorpholinoMRNADevelopmental DefectsPediatric DiseaseAdult-onset DisordersOrthologousDominant NegativeGain Of FunctionLoss Of FunctionPhenotypingMorphogenetic SignalingCraniofacialCardiacVascularRenalSkeletal Muscle

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