In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

J.  Michael Harnish; Samantha  L. Deal; Hsiao-Tuan Chao; Michael  F. Wangler; Shinya Yamamoto

doi:10.3791/59658

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

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JoVE Journal Genetica

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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J. Michael Harnish*¹, Samantha L. Deal*², Hsiao-Tuan Chao^3,4,5, Michael F. Wangler^2,4, Shinya Yamamoto^2,4,5

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

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00:04Titolo
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

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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.

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

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