Publication: Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7
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Atac, D., Mohn, L., Feil, S., Maggi, K., Haenni, D., Seebauer, B., Koller, S., & Berger, W. (2022). Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. International Journal of Molecular Sciences, 23, 1053. https://doi.org/10.3390/ijms23031053
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Basic helix-loop-helix (bHLH) transcription factors are evolutionarily conserved and structurally similar proteins important in development. The temporospatial expression of atonal bHLH transcription factor 7 (ATOH7) directs the differentiation of retinal ganglion cells and mutations in the human gene lead to vitreoretinal and/or optic nerve abnormalities. Characterization of pathogenic ATOH7 mutations is needed to understand the functions of the conserved bHLH motif. The published ATOH7 in-frame deletion p.(Arg41_Arg48del) removes ei
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- Atac, David
- Mohn, Lucas
- Feil, Silke
- Maggi, Kevin
- Haenni, Dominik
- Seebauer, Britta
- Koller, Samuel
- Berger, Wolfgang
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Atac, D., Mohn, L., Feil, S., Maggi, K., Haenni, D., Seebauer, B., Koller, S., & Berger, W. (2022). Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. International Journal of Molecular Sciences, 23, 1053. https://doi.org/10.3390/ijms23031053
