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Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

Article Abstract:

Mutations in SIX5 are identified as a novel cause of BOR. Results reveal that mutations of SIX5 compromise the interaction between the two proteins decreasing the transcriptional activity of the Eya1-SIX5 complex.

Author: Smith, Richard J.H., Zou, Dan, Silvius, Derek, Petit, Christine, Hoskins, Bethan E., Cramer, Carl H., II, Raymond, Richard M., Jr., Orten, Dana J., Kimberling, William J., Weil, Dominique, Otto, Edgar A., Pin-Xian Xu, Hildebrandt, Friedhelm
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Gene mutations, Gene mutation, Genetic transcription, Transcription (Genetics), Report, Branchio-Oto-Renal syndrome

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Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear

Article Abstract:

The role of eyes absent 1 (Eya1) genes in the development of epithelium and sensory regions of the inner ear in mice is studied.

Author: Enerback, Sven, Zou, Dan, Silvius, Derek, Rodrigo-Blomqvist, Sandra, Xu, Pin-Xian
Publisher: Elsevier B.V.
Publication Name: Developmental Biology
Subject: Biological sciences
ISSN: 0012-1606
Year: 2006
Sweden, Mice, Growth, House mouse, Epithelium, Labyrinth (Ear), Company growth

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Patterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1

Article Abstract:

The role that Six genes and Eya1 play in the development of the third pharyngeal pouch into the thymus/parathyroid is studied.

Author: Zou, Dan, Silvius, Derek, Xu, Pin-Xian, Davenport, Julie, Grifone, Raphaelle, Maire, Pascal
Publisher: Elsevier B.V.
Publication Name: Developmental Biology
Subject: Biological sciences
ISSN: 0012-1606
Year: 2006
Developmental genetics, Thymus, Thymus gland, Pharynx, Throat, Parathyroid glands

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Subjects list: Research, United States, Genetic aspects
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