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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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JoVE Journal Genetics
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

DOI:
10.3791/59658-v

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00:06 min

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August 20, 2019

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, , , ,
1Department of Molecular and Human Genetics,Baylor College of Medicine, 2Program in Developmental Biology,Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience,Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute,Texas Children’s Hospital, 5Department of Neuroscience,Baylor College of Medicine

Chapters

  • 00:04Title
  • 00:57Functional Analyses of Human Disease Associated Missense Variants
  • 04:51Representative Results: Over-expression Based Functional Analyses of Disease Associated Variants in TBX2
  • 06:02Conclusion

Summary

Automatic Translation

Automatic Translation

The goal of this protocol is to outline the design and performance of in vivo experiments in Drosophila melanogaster to assess the functional consequences of rare gene variants associated with human diseases.

Tags

DrosophilaIn Vivo Functional StudyRare Human VariantsDisease-associated VariantsProtein FunctionRescue ExperimentsOverexpression StudiesGal4-UAS SystemVisual SystemPhotoreceptors

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