Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-014-1503-8.pdf
Reference47 articles.
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2. Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P (2007) TBX22 missense mutations found in patients with x-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet 81(4):700–712. doi: 10.1086/521033
3. Barembaum M, Bronner ME (2013) Identification and dissection of a key enhancer mediating cranial neural crest specific expression of transcription factor, Ets-1. Dev Biol 382(2):567–575. doi: 10.1016/j.ydbio.2013.08.009
4. Betancur P, Bronner-Fraser M, Sauka-Spengler T (2010) Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest. Proc Natl Acad Sci USA 107(8):3570–3575. doi: 10.1073/pnas.0906596107
5. Braybrook C, Doudney K, Marcano ACB, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29(2):179–183. doi: 10.1038/ng730
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