Search Results - "Dickel, Diane"
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Single-nucleus analysis of accessible chromatin in developing mouse forebrain reveals cell-type-specific transcriptional regulation
Published in Nature neuroscience (01-03-2018)“…Analysis of chromatin accessibility can reveal transcriptional regulatory sequences, but heterogeneity of primary tissues poses a significant challenge in…”
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High-Throughput Single-Cell Transcriptome Profiling of Plant Cell Types
Published in Cell reports (Cambridge) (14-05-2019)“…Single-cell transcriptome profiling of heterogeneous tissues can provide high-resolution windows into developmental dynamics and environmental responses, but…”
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Genomic Patterns of De Novo Mutation in Simplex Autism
Published in Cell (19-10-2017)“…To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064…”
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The changing mouse embryo transcriptome at whole tissue and single-cell resolution
Published in Nature (London) (30-07-2020)“…During mammalian embryogenesis, differential gene expression gradually builds the identity and complexity of each tissue and organ system 1 . Here we…”
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Perfect and imperfect views of ultraconserved sequences
Published in Nature reviews. Genetics (01-03-2022)“…Across the human genome, there are nearly 500 ‘ultraconserved’ elements: regions of at least 200 contiguous nucleotides that are perfectly conserved in both…”
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Progressive Loss of Function in a Limb Enhancer during Snake Evolution
Published in Cell (20-10-2016)“…The evolution of body shape is thought to be tightly coupled to changes in regulatory sequences, but specific molecular events associated with major…”
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Cardiac Reprogramming Factors Synergistically Activate Genome-wide Cardiogenic Stage-Specific Enhancers
Published in Cell stem cell (03-07-2019)“…The cardiogenic transcription factors (TFs) Mef2c, Gata4, and Tbx5 can directly reprogram fibroblasts to induced cardiac-like myocytes (iCLMs), presenting a…”
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Ultraconserved Enhancers Are Required for Normal Development
Published in Cell (25-01-2018)“…Non-coding “ultraconserved” regions containing hundreds of consecutive bases of perfect sequence conservation across mammalian genomes can function as…”
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Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder
Published in Cell stem cell (05-11-2020)“…Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence…”
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VISTA Enhancer browser: an updated database of tissue-specific developmental enhancers
Published in Nucleic acids research (29-10-2024)“…Regulatory elements (enhancers) are major drivers of gene expression in mammals and harbor many genetic variants associated with human diseases. Here, we…”
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Spatiotemporal DNA methylome dynamics of the developing mouse fetus
Published in Nature (London) (30-07-2020)“…Cytosine DNA methylation is essential for mammalian development but understanding of its spatiotemporal distribution in the developing embryo remains limited 1…”
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Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants
Published in Cell (19-03-2020)“…Establishing causal links between non-coding variants and human phenotypes is an increasing challenge. Here, we introduce a high-throughput mouse reporter…”
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The Ties That Bind: Mapping the Dynamic Enhancer-Promoter Interactome
Published in Cell (17-11-2016)“…Coupling chromosome conformation capture to molecular enrichment for promoter-containing DNA fragments enables the systematic mapping of interactions between…”
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Molecular Mechanisms Driving Switch Behavior in Xylem Cell Differentiation
Published in Cell reports (Cambridge) (09-07-2019)“…Plant xylem cells conduct water and mineral nutrients. Although most plant cells are totipotent, xylem cells are unusual and undergo terminal differentiation…”
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15
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Published in Nature genetics (01-08-2020)“…A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants…”
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Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-2024)“…There is evidence that transcription factor (TF) encoding genes, which temporally control development in multiple cell types, can have tens of enhancers that…”
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Supervised enhancer prediction with epigenetic pattern recognition and targeted validation
Published in Nature methods (01-08-2020)“…Enhancers are important non-coding elements, but they have traditionally been hard to characterize experimentally. The development of massively parallel assays…”
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Genomic Resolution of DLX-Orchestrated Transcriptional Circuits Driving Development of Forebrain GABAergic Neurons
Published in Cell reports (Cambridge) (20-08-2019)“…DLX transcription factors (TFs) are master regulators of the developing vertebrate brain, driving forebrain GABAergic neuronal differentiation. Ablation of…”
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Increased enhancer–promoter interactions during developmental enhancer activation in mammals
Published in Nature genetics (01-04-2024)“…Remote enhancers are thought to interact with their target promoters via physical proximity, yet the importance of this proximity for enhancer function remains…”
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Genome-wide compendium and functional assessment of in vivo heart enhancers
Published in Nature communications (05-10-2016)“…Whole-genome sequencing is identifying growing numbers of non-coding variants in human disease studies, but the lack of accurate functional annotations…”
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