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Article
Open AccessDynamic enhancer landscapes in human craniofacial development
The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during c...
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Article
Open AccessConserved enhancers control notochord expression of vertebrate Brachyury
The cell type-specific expression of key transcription factors is central to development and disease. Brachyury/T/TBXT is a major transcription factor for gastrulation, tailbud patterning, and notochord formation...
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Article
Open AccessA spatio-temporally constrained gene regulatory network directed by PBX1/2 acquires limb patterning specificity via HAND2
A lingering question in developmental biology has centered on how transcription factors with widespread distribution in vertebrate embryos can perform tissue-specific functions. Here, using the murine hindlimb...
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Protocol
Characterization of Mammalian In Vivo Enhancers Using Mouse Transgenesis and CRISPR Genome Editing
Embryonic morphogenesis is strictly dependent on tight spatiotemporal control of developmental , which is typically achieved through the concerted activity of multiple driving cell type-specific expression ...
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Article
Noncoding deletions reveal a gene that is critical for intestinal function
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here...
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Article
Enhancer redundancy provides phenotypic robustness in mammalian development
Gene enhancer knockout phenotypes and analysis of enhancer activity patterns show that developmental genes are regulated by multiple redundant enhancers in mouse embryos.
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Article
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog)
Stefan Mundlos, Darío Lupiáñez and colleagues investigate CNVs involving the regulatory landscape of IHH (Indian hedgehog), which cause craniosynostosis and synpolydactyly. Using genetic manipulation in mice, the...
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Article
Open AccessGenome-wide compendium and functional assessment of in vivo heart enhancers
Whole-genome sequencing is identifying growing numbers of non-coding variants in human disease studies, but the lack of accurate functional annotations prevents their interpretation. We describe the genome-wid...
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Article
Dual RMCE for efficient re-engineering of mouse mutant alleles
An efficient one-step method for re-engineering mouse mutant alleles harboring loxP and FRT sites is reported. It may be applied to the large collection of targeted alleles from the International Knockout Mouse C...
