Search Results - "Afzal, Veena"
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ChIP-seq accurately predicts tissue-specific activity of enhancers
Published in Nature (12-02-2009)“…A major yet unresolved quest in decoding the human genome is the identification of the regulatory sequences that control the spatial and temporal expression of…”
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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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3
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
Published in Nature (London) (18-03-2010)“…Sequence polymorphisms in a 58-kilobase (kb) interval on chromosome 9p21 confer a markedly increased risk of coronary artery disease (CAD), the leading cause…”
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4
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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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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Germline Chd8 haploinsufficiency alters brain development in mouse
Published in Nature neuroscience (01-08-2017)“…Strong genetic evidence points to a significant role for heterozygous mutations to general chromatin remodeling factors, such as CHD8, in autism. Gompers et al…”
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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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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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Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers
Published in Science (American Association for the Advancement of Science) (25-10-2013)“…The shape of the human face and skull is largely genetically determined. However, the genomic basis of craniofacial morphology is incompletely understood and…”
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ChIP-Seq identification of weakly conserved heart enhancers
Published in Nature genetics (01-09-2010)“…Accurate control of tissue-specific gene expression plays a pivotal role in heart development, but few cardiac transcriptional enhancers have thus far been…”
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Large-scale discovery of enhancers from human heart tissue
Published in Nature genetics (01-01-2012)“…Len Pennacchio, Axel Visel and colleagues use an epigenomic approach to identify a large number of candidate enhancers from human heart tissue. This work will…”
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A High-Resolution Enhancer Atlas of the Developing Telencephalon
Published in Cell (14-02-2013)“…The mammalian telencephalon plays critical roles in cognition, motor function, and emotion. Though many of the genes required for its development have been…”
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Tissue-specific RNA expression marks distant-acting developmental enhancers
Published in PLoS genetics (01-09-2014)“…Short non-coding transcripts can be transcribed from distant-acting transcriptional enhancer loci, but the prevalence of such enhancer RNAs (eRNAs) within the…”
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Ultraconservation identifies a small subset of extremely constrained developmental enhancers
Published in Nature genetics (01-02-2008)“…Extended perfect human-rodent sequence identity of at least 200 base pairs (ultraconservation) is potentially indicative of evolutionary or functional…”
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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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16
Human-Specific Gain of Function in a Developmental Enhancer
Published in Science (American Association for the Advancement of Science) (05-09-2008)“…Changes in gene regulation are thought to have contributed to the evolution of human development. However, in vivo evidence for uniquely human developmental…”
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Deletion of ultraconserved elements yields viable mice
Published in PLoS biology (01-09-2007)“…Ultraconserved elements have been suggested to retain extended perfect sequence identity between the human, mouse, and rat genomes due to essential functional…”
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Dynamic enhancer landscapes in human craniofacial development
Published in Nature communications (06-03-2024)“…The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the…”
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Function-based identification of mammalian enhancers using site-specific integration
Published in Nature methods (01-05-2014)“…Putative enhancer elements of a genomic region of interest are cloned in front of a reporter gene, integrated in a single site in mouse embryonic stem cells,…”
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Close sequence comparisons are sufficient to identify human cis-regulatory elements
Published in Genome Research (01-07-2006)“…Cross-species DNA sequence comparison is the primary method used to identify functional noncoding elements in human and other large genomes. However, little is…”
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