标题
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 23, Issue 10, Pages 2711-2720
出版商
Oxford University Press (OUP)
发表日期
2014-01-18
DOI
10.1093/hmg/ddt664
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A High-Resolution Enhancer Atlas of the Developing Telencephalon
- (2013) Axel Visel et al. CELL
- A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
- (2012) Lingli Huang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63
- (2012) Brian J. Zarnegar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiation
- (2012) Simon S. McDade et al. NUCLEIC ACIDS RESEARCH
- A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis
- (2011) Elisabetta Ferretti et al. DEVELOPMENTAL CELL
- MCS9.7enhancer activity is highly, but not completely, associated with expression of Irf6 and p63
- (2011) Walid D. Fakhouri et al. DEVELOPMENTAL DYNAMICS
- Cleft lip and palate: understanding genetic and environmental influences
- (2011) Michael J. Dixon et al. NATURE REVIEWS GENETICS
- Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo
- (2011) M. W. Perry et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice
- (2010) Helen A. Thomason et al. JOURNAL OF CLINICAL INVESTIGATION
- Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
- (2009) Renata L L Ferreira de Lima et al. GENETICS IN MEDICINE
- Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence
- (2009) Rebecca J. Richardson et al. HUMAN MOLECULAR GENETICS
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- Genomic views of distant-acting enhancers
- (2009) Axel Visel et al. NATURE
- Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
- (2009) Stefanie Birnbaum et al. NATURE GENETICS
- The genetics of isolated orofacial clefts: from genotypes to subphenotypes
- (2009) A Jugessur et al. ORAL DISEASES
- Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling
- (2008) Helen A. Thomason et al. DEVELOPMENTAL BIOLOGY
- Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
- (2008) Fedik Rahimov et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk 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