Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate
Authors
Keywords
Electrophoretic Mobility Shift Assay, Cleft Palate, Cleave Palate, Choanal Atresia, Core Promoter Region
Journal
HUMAN GENETICS
Volume 134, Issue 2, Pages 147-158
Publisher
Springer Nature
Online
2014-11-15
DOI
10.1007/s00439-014-1503-8
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- TGF regulates epithelial-mesenchymal interactions through WNT signaling activity to control muscle development in the soft palate
- (2014) J.-i. Iwata et al. DEVELOPMENT
- Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
- (2014) Daphné Lehalle et al. HUMAN MUTATION
- A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence
- (2014) Zena T. Wolf et al. PLoS Genetics
- Identification and dissection of a key enhancer mediating cranial neural crest specific expression of transcription factor, Ets-1
- (2013) Meyer Barembaum et al. DEVELOPMENTAL BIOLOGY
- X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result fromTBX22splicing mutations
- (2012) E Pauws et al. CLINICAL GENETICS
- Dynamic and Differential Regulation of Stem Cell Factor FoxD3 in the Neural Crest Is Encrypted in the Genome
- (2012) Marcos S. Simões-Costa et al. PLoS Genetics
- Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations
- (2011) P.N. Kantaputra et al. JOURNAL OF DENTAL RESEARCH
- Cleft lip and palate: understanding genetic and environmental influences
- (2011) Michael J. Dixon et al. NATURE REVIEWS GENETICS
- The mechanism of TGF-β signaling during palate development
- (2011) J Iwata et al. ORAL DISEASES
- Epithelial Wnt/β-catenin signaling regulates palatal shelf fusion through regulation of Tgfβ3 expression
- (2010) Fenglei He et al. DEVELOPMENTAL BIOLOGY
- Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest
- (2010) Paola Betancur et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Differential Shh, Bmp and Wnt gene expressions during craniofacial development in mice
- (2009) Katiucia Batista Silva Paiva et al. ACTA HISTOCHEMICA
- Signaling integration in the rugae growth zone directs sequential SHH signaling center formation during the rostral outgrowth of the palate
- (2009) Ian C. Welsh et al. DEVELOPMENTAL BIOLOGY
- The function and regulation of TBX22 in avian frontonasal morphogenesis
- (2009) Norihisa Higashihori et al. DEVELOPMENTAL DYNAMICS
- Tbx22 null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes
- (2009) Erwin Pauws et al. HUMAN MOLECULAR GENETICS
- A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia
- (2009) E Pauws et al. JOURNAL OF MEDICAL GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started