| 单词 | exon |
| 例句 | If the process errs by even a single nucleotide, the sequence of the rejoined exons would be shifted, and the resulting protein would be nonfunctional. Concepts of Biology 2013-04-25T00:00:00Z In particular, they amplify expression of the exon, although the mechanism is unknown. Biology for AP Courses 2022-06-09T00:00:00Z When the introns are cut out of pre-mRNA, the exons need to be joined together to form a complete mRNA strand. Miller & Levine Biology 2018-01-01T00:00:00Z An exon is a segment of RNA that remains after splicing. Anatomy and Physiology 2013-06-19T00:00:00Z Cummings and colleagues demonstrated that, when an individual carries a pLoF variant in an ‘intolerant’ gene, the variant is often in an exon that shows this restricted expression, thus limiting its effect. Thousands of human sequences provide deep insight into single genomes 2020-05-26T04:00:00Z It is essential that all of a pre-mRNA’s introns be completely and precisely removed before protein synthesis so that the exons join together to code for the correct amino acids. Concepts of Biology 2013-04-25T00:00:00Z This is supported by the fact that separate exons often encode separate protein subunits or domains. Biology for AP Courses 2022-06-09T00:00:00Z The remaining pieces, known as exons, are then spliced back together to form the final mRNA. Miller & Levine Biology 2018-01-01T00:00:00Z A process called RNA splicing joins the exons together and discards the introns. A Breakthrough in Genetic Medicine for Rare Diseases 2020-03-23T04:00:00Z Importantly, even if an exon is missing, functional dystrophin can still be made. Why rare genetic diseases are a logical focus for RNA therapies 2019-10-15T04:00:00Z Segments of pre-mRNA with exons shown in blue, red, orange, and pink can be spliced to produce a variety of new mature mRNA segments. Concepts of Biology 2013-04-25T00:00:00Z Splicing occurs by a sequence-specific mechanism that ensures introns will be removed and exons rejoined with the accuracy and precision of a single nucleotide. Biology for AP Courses 2022-06-09T00:00:00Z The latter is an example of an ‘exon’ skipping drug, which uses an ASO to block only the mutated portion of a gene from being expressed. RNA therapies explained 2019-10-15T04:00:00Z The investigators are testing a strategy called exon skipping: putting a molecular bandage over a tiny mutation in a large gene. For Many Boys With Duchenne Muscular Dystrophy, Bright Hope Lies Just Beyond Reach 2019-03-25T04:00:00Z When an mRNA is transcribed from a gene, it contains both introns and exons. Why rare genetic diseases are a logical focus for RNA therapies 2019-10-15T04:00:00Z In fact, there are mechanisms in place to prevent such exon skipping, but mutations are likely to lead to their failure. Concepts of Biology 2013-04-25T00:00:00Z Helper proteins attach themselves to the ends of exons so that they can be spliced out during RNA splicing and coded areas are spliced together to form mRNA which encodes the final protein. Biology for AP Courses 2022-06-09T00:00:00Z RNA molecules that are newly transcribed from DNA contain intron and exon sequences. Intron RNA sequences help yeast cells to survive starvation 2019-01-15T05:00:00Z However, the variants were shorter than expected, and contained single-nucleotide mutations, inserted and deleted exons, and larger deletions that led to the formation of new exon–exon junctions between missing multi-exon regions. A newly discovered mechanism driving neuronal mutations in Alzheimer’s disease 2018-11-20T05:00:00Z Known as exon skipping, this resulted in the downstream mRNA no longer being unreadable and in functional dystrophin being formed. Why rare genetic diseases are a logical focus for RNA therapies 2019-10-15T04:00:00Z They left the cells to grow in vitro for 11 days, then sequenced the edited exon to gauge the frequency at which each variant was present in the cell population. Gene editing reveals the effect of thousands of variants in a key cancer gene 2018-09-11T04:00:00Z If the process errs by even a single nucleotide, the reading frame of the rejoined exons would shift, and the resulting protein would be dysfunctional. Biology for AP Courses 2022-06-09T00:00:00Z The remaining exon sequences are joined together to form mature mRNA. Intron RNA sequences help yeast cells to survive starvation 2019-01-15T05:00:00Z If HTT exon 1 is the real cause of Huntington’s disease, exactly how it exerts its damaging effect remains unclear. Piecing together the puzzle of Huntington’s disease 2018-05-29T04:00:00Z Removal of exon 2 results in a frame shift and premature stop codon in exon 3. ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase 2018-05-15T04:00:00Z Phylogeny, diversity, and classification of the Accipitridae based on DNA sequences of the RAG-1 exon. Raptors Once More (Raptors, Part 2) 2018-01-21T05:00:00Z The intron is transcribed into mRNA, but this noncoding mRNA is edited out before translation of the coding portion, or exon, of a gene. Biology for AP Courses 2022-06-09T00:00:00Z Intriguingly, this repair of the growth defect happened only when the sequence encompassing the 5ʹ end and the first exon of the RNA molecule were unmodified. Intron RNA sequences help yeast cells to survive starvation 2019-01-15T05:00:00Z Other scientists blame the tendency of HTT exon 1 to aggregate with itself. Piecing together the puzzle of Huntington’s disease 2018-05-29T04:00:00Z Otherwise, they were similar to genes in the other genomes, except for having a lower average number of exons. Genome sequence of the progenitor of the wheat D genome Aegilops tauschii 2017-11-14T05:00:00Z Sequences within the exons are in uppercase and introns are in lowercase. Genome editing reveals a role for OCT4 in human embryogenesis : Nature : Nature Research 2017-09-19T04:00:00Z The edited exon segments are then spliced together by a spliceosome, a very large and complex collection of RNAs and proteins. Biology for AP Courses 2022-06-09T00:00:00Z To quantify gene expression levels, the number of reads mapped to the exons of each RefSeq gene was calculated. A distinct role for Lgr5+ stem cells in primary and metastatic colon cancer : Nature : Nature Research 2017-03-28T04:00:00Z Nerve cells from people with Huntington’s disease contain clumps of huntingtin-related proteins, as well as smaller fibrils comprising thousands of copies of HTT exon 1. Piecing together the puzzle of Huntington’s disease 2018-05-29T04:00:00Z Ae. tauschii genes were the longest, had the longest mean exon length, and together with barley genes had the longest transcript lengths among the genomes. Genome sequence of the progenitor of the wheat D genome Aegilops tauschii 2017-11-14T05:00:00Z Sequences within the exons are in uppercase and introns are in lowercase. Genome editing reveals a role for OCT4 in human embryogenesis : Nature : Nature Research 2017-09-19T04:00:00Z The x axis shows number of exons; the y axis the retention rate of each bin. Genome evolution in the allotetraploid frog Xenopus laevis : Nature : Nature Research 2016-10-18T04:00:00Z The drug, eteplirsen, uses a technology called exon skipping that seeks to partly correct the genetic defect, allowing muscle cells to produce a somewhat functional form of dystrophin. F.D.A. Approves Muscular Dystrophy Drug That Patients Lobbied For 2016-09-19T04:00:00Z But some of the antisense molecules being tested target a portion of HTT that is distant from exon 1, Disney says. Piecing together the puzzle of Huntington’s disease 2018-05-29T04:00:00Z The machinery skips exon 51 and continues with the rest of the protein, resulting in a product that is shorter than normal, but more functional, than the original mutated form. US government approves controversial drug for muscular dystrophy 2016-09-19T04:00:00Z The exome, for example, is the part of the genome comprising only the stretches of DNA called exons that code for protein molecules.Targeting only these regions is like fishing: it requires bait. Technology: Read the instructions : Nature : Nature Research 2016-09-06T04:00:00Z The x axis shows number of exons; the y axis the retention rate of each bin. Genome evolution in the allotetraploid frog Xenopus laevis : Nature : Nature Research 2016-10-18T04:00:00Z This is what happens in a milder disease known as Becker muscular dystrophy, in which mutations cause instructions from a few exons to be skipped during the protein-making process. Gene Editing Offers Hope for Treating Duchenne Muscular Dystrophy, Studies Find 2015-12-31T05:00:00Z The rare disease usually results from missing DNA or other defects in the 79 exons, or stretches of protein-coding DNA, that make up the long dystrophin gene. CRISPR helps heal mice with muscular dystrophy 2015-12-31T05:00:00Z That let scientists identify 648 sperm RNA elements — known as exons — linked with male fertility. Sequencing the RNA of sperm may better diagnose a man's infertility 2015-07-08T04:00:00Z An external magnet is used to literally pull down the exon DNA, leaving everything else to be discarded. Technology: Read the instructions : Nature : Nature Research 2016-09-06T04:00:00Z Near TSSs, intermediate methylation correlated with intermediate gene expression, and in exons it was associated with an intermediate level of exon inclusion47. Integrative analysis of 111 reference human epigenomes : Nature : Nature Publishing Group 2015-02-17T05:00:00Z Some fear that Duchenne patients may get only one shot at treatment before developing resistance to the virus used to edit the defective exons. Gene Editing Offers Hope for Treating Duchenne Muscular Dystrophy, Studies Find 2015-12-31T05:00:00Z Companies have also developed compounds that cause the cell’s DNA-reading machinery to bypass a defective exon in the dystrophin gene and produce a short but functional form of the crucial protein. CRISPR helps heal mice with muscular dystrophy 2015-12-31T05:00:00Z Peaks outside of promoters but not in exons or introns were annotated as distal. Transcription factor binding dynamics during human ES cell differentiation : Nature : Nature Publishing Group 2015-02-17T05:00:00Z Lead SNPs that overlapped with exons were removed. Principles of regulatory information conservation between mouse and human : Nature : Nature Publishing Group 2014-11-18T05:00:00Z We found fewer insertions than expected by chance within 1 kb of the nearest exon. d, Identification of pmiRGlo_LA_F polyadenylation sites by 3′ RACE. Gibbon genome and the fast karyotype evolution of small apes : Nature : Nature Publishing Group 2014-09-09T04:00:00Z With the damaged exons removed, the cells started to produce dystrophin proteins. Gene Editing Offers Hope for Treating Duchenne Muscular Dystrophy, Studies Find 2015-12-31T05:00:00Z As these fusions occur downstream of the CLDN18 exon 5 stop codon, they appeared unlikely to enable translation of fusion proteins. Comprehensive molecular characterization of gastric adenocarcinoma : Nature : Nature Publishing Group 2014-07-22T04:00:00Z The first exon has two alternative splice acceptors that splice to one of eleven different donor sites. Diversity and dynamics of the Drosophila transcriptome : Nature : Nature Publishing Group 2014-03-15T04:00:00Z The drug "skips" the exon, in effect removing the coil fragment and allowing some dystrophin production. UCLA's DNA Detectives in Action 2014-08-25T04:00:00Z We found fewer insertions than expected by chance within 1 kb of the nearest exon. d, Identification of pmiRGlo_LA_F polyadenylation sites by 3′ RACE. Gibbon genome and the fast karyotype evolution of small apes : Nature : Nature Publishing Group 2014-09-09T04:00:00Z Without the defective exon, the muscle cells made a shortened dystrophin protein that was nonetheless functional, giving all of the mice more strength. Gene Editing Offers Hope for Treating Duchenne Muscular Dystrophy, Studies Find 2015-12-31T05:00:00Z Intriguingly, the exons removed by these alterations encode regions of the kinase domain. Comprehensive molecular characterization of gastric adenocarcinoma : Nature : Nature Publishing Group 2014-07-22T04:00:00Z Only 1,058 spliced genes have alternative first exons that alter protein-encoding capacity and increase the complexity of the predicted proteome. Diversity and dynamics of the Drosophila transcriptome : Nature : Nature Publishing Group 2014-03-15T04:00:00Z If such studies do show promise, then the hope is to tweak this kind of treatment for boys missing other exons, like Dylan. UCLA's DNA Detectives in Action 2014-08-25T04:00:00Z We identified alternative splicing due to both splicing factor mutations in trans and mutation of splice sites in cis, the latter leading to activation of the MET gene by exon 14 skipping. Comprehensive molecular profiling of lung adenocarcinoma : Nature : Nature Publishing Group 2014-07-08T04:00:00Z Eteplirsen uses an approach called exon skipping, intended to bypass the existing mutation and restore a gene’s ability to produce dystrophin. Once in limbo, promising new muscular dystrophy drug back on track for approval 2014-04-21T11:00:00Z For each of the three groups 17 randomly selected genes with confirmed exon–intron structure were aligned to 24 additional sugar beet accessions. The genome of the recently domesticated crop plant sugar beet (Beta vulgaris) 2014-01-22T18:21:48.441Z The first exon has two alternative splice acceptors that splice to one of eleven different donor sites. Diversity and dynamics of the Drosophila transcriptome : Nature : Nature Publishing Group 2014-03-15T04:00:00Z The naturally occurring gene contains exons, introns, and other genetic material; the cDNA contains only exons. New Supreme Court Decision Rules That cDNA Is Patentable What It Means for Research and Genetic Testing 2013-07-09T15:45:05.410Z DNA and mRNA sequence from the same tumour highlighted splicing alterations driven by somatic genomic changes, including exon 14 skipping in MET mRNA in 4% of cases. Comprehensive molecular profiling of lung adenocarcinoma : Nature : Nature Publishing Group 2014-07-08T04:00:00Z Only about 13 percent of Duchenne patients have mutations that could benefit from eteplirsen, but Sarepta is developing similar drugs to treat boys with other exon deletions, along with clinical trials to test them. Once in limbo, promising new muscular dystrophy drug back on track for approval 2014-04-21T11:00:00Z For each of the three groups 17 randomly selected genes with confirmed exon–intron structure were aligned to 24 additional sugar beet accessions. The genome of the recently domesticated crop plant sugar beet (Beta vulgaris) 2014-01-22T18:21:48.441Z For example, a single exon gene on the opposite strand and in the last intron of the early developmental growth factor spätzle encodes a 42-amino-acid protein that is highly conserved across all sequenced Drosophila species. Diversity and dynamics of the Drosophila transcriptome : Nature : Nature Publishing Group 2014-03-15T04:00:00Z Gene sequencing confirmed that the animals bore an analogous DNA mutation to the one seen in humans, which removes a large chunk of the BIN1 gene, known as exon 11. Dogs Provide Insight Into Rare Genetic Disease 2013-06-13T22:40:00Z Although "cDNA retains the naturally occurring exons of DNA … it is distinct from the DNA from which it was derived," the court wrote. U.S. Supreme Court Strikes Down Human Gene Patents 2013-06-13T22:00:00Z Just after this, they write: “cDNA contains only the exons that occur in DNA, omitting the intervening introns.” Supreme Court Gets Decision Right On Gene Patents, Science Wrong 2013-06-13T19:21:00Z For each of the three groups 17 randomly selected genes with confirmed exon–intron structure were aligned to 24 additional sugar beet accessions. The genome of the recently domesticated crop plant sugar beet (Beta vulgaris) 2014-01-22T18:21:48.441Z For more than an hour, the justices quizzed the competing sides about exons, introns, and cDNAs, proposing several different metaphors in an effort to squeeze the complex biology into a manageable legal mold. Can Human Genes Be Patented? 2013-04-17T20:25:00Z The gene responsible for producing dystrophin contains a series of 79 sections, called exons. New-look Sarepta eyes approval for muscular dystrophy drug 2013-04-02T18:12:28Z In the patients who are candidates for the drug, it is exon 51 that contains the mutation that causes production of dystrophin to stop. Drug Shows Promise in Treating Type of Muscular Dystrophy 2012-10-03T14:24:42Z Reads providing evidence for the splicing of the region containing the exon not being completed yet are indicated by d and e. Landscape of transcription in human cells 2012-09-05T17:22:14.337Z We restricted our analysis to nucleotides outside of exons and RepeatMasked regions. The accessible chromatin landscape of the human genome 2012-09-05T17:21:47.670Z We developed predictive models similar to those used to model transcriptional activity to explore the relationship between levels of histone modification and inclusion of exons in alternately spliced transcripts. An integrated encyclopedia of DNA elements in the human genome 2012-09-05T17:21:22.380Z When one or more of these exons are absent, the entire chain is disrupted and the body is unable to produce the muscle-building protein. New-look Sarepta eyes approval for muscular dystrophy drug 2013-04-02T18:12:28Z By causing the muscle cells to skip over exon 51, eteplirsen allows them to produce a form of dystrophin that is not perfect but appears to be somewhat functional. Drug Shows Promise in Treating Type of Muscular Dystrophy 2012-10-03T14:24:42Z Read mappings that allow assessment of splicing completion around exons are shown. Landscape of transcription in human cells 2012-09-05T17:22:14.337Z For the remaining candidate fusion events, we constructed artificial exon–exon junctions consisting of the exons distal to the supported donor exon and the exons proximal to the supported acceptor exon. Recurrent R-spondin fusions in colon cancer 2012-08-29T17:52:03.740Z In , we plot both these measures of constraint for different classes of identified functional elements, excluding features overlapping exons and promoters that are known to be constrained. An integrated encyclopedia of DNA elements in the human genome 2012-09-05T17:21:22.380Z It helps the body to skip this particular exon so that dystrophin can continue to be produced. New-look Sarepta eyes approval for muscular dystrophy drug 2013-04-02T18:12:28Z Sequencing of exon 2 in a further 85 medulloblastomas revealed one additional case with an identical mutation. Dissecting the genomic complexity underlying medulloblastoma 2012-08-01T17:52:34.853Z Reads providing evidence for the splicing of the region containing the exon not being completed yet are indicated by d and e. Landscape of transcription in human cells 2012-09-05T17:22:14.337Z We required that both fragments flanking a distant splice, or both ends of an unpaired or discordant paired-end alignment, map to known exon regions. Recurrent R-spondin fusions in colon cancer 2012-08-29T17:52:03.740Z The exome, including only exons, is to the genome what a Wikipedia entry about a book is to the actual book. 10 Things Exome Sequencing Can t Do-But Why It s Still Powerful 2012-05-16T13:45:00.180Z Of the remaining entries, we kept the following events: exon_bites where both ends of a junction are within the same gene, and in addition affect exonic sequence. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes 2012-03-28T21:50:58.107Z RNA sequencing further revealed a novel fusion transcript, not expected from the DNA data, containing the first exon of and exons 2 and 3 of SHH. Dissecting the genomic complexity underlying medulloblastoma 2012-08-01T17:52:34.853Z Read mappings that allow assessment of splicing completion around exons are shown. Landscape of transcription in human cells 2012-09-05T17:22:14.337Z As a control, we also constructed all exon–exon junctions consisting of combinations of exons within the same gene, for all genes contributing to a candidate fusion event. Recurrent R-spondin fusions in colon cancer 2012-08-29T17:52:03.740Z A few exons, such as those buried in stretches of repeats out towards the chromosome tips, aren’t part of exome sequencing chips. 10 Things Exome Sequencing Can t Do-But Why It s Still Powerful 2012-05-16T13:45:00.180Z The structural variants often consisted of deletions of one or a few exons, inversions or translocations deleting part of a gene. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes 2012-03-28T21:50:58.107Z We also explored species specific variation in splicing by calculating the variance in differential expression of orthologous exons within each gene. Insights into hominid evolution from the gorilla genome sequence 2012-03-07T18:21:00.777Z We report previously undetected exons and overlapping functional elements within protein-coding sequence, new classes of RNA structures, promoter conservation profiles and predicted targets of transcriptional regulators. A high-resolution map of human evolutionary constraint using 29 mammals 2011-10-26T17:21:43.610Z The exons included in the proximal and distal computations were limited so that the cumulative length along each gene was within an estimated maximum insert length of 200 bp. Recurrent R-spondin fusions in colon cancer 2012-08-29T17:52:03.740Z A mutation that jettisons a base in an intron can have dire consequences: inserting intron sequences into the protein, or obliterating the careful stitching together of exons, dropping gene sections. 10 Things Exome Sequencing Can t Do-But Why It s Still Powerful 2012-05-16T13:45:00.180Z This exon is highly conserved across 29 mammals and therefore probably represents a mammalian innovation since the amniote ancestor. The genome of the green anole lizard and a comparative analysis with birds and mammals 2011-09-28T17:21:44.667Z Overall, 74% of annotated genes show at least one previously undescribed or modified exon or alternative splice form, despite extensive previous annotation efforts, illustrating the importance of probing additional cell types. [Research Article] Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE 2011-01-05T15:57:51.363Z For 6418 models, the internal gene structure was unchanged from WormBase, but new 5′ or 3′ exons and associated splice junctions were added. [Research Article] Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project 2011-01-05T01:55:48.427Z Before this tidings could be well digested, the frightened plotter learned that his own arrest had been ordered, and that the exons were already at his door to secure his person. Historical Tales, Vol. 6 (of 15) The Romance of Reality. French. The exon looked all round the room; he knew every one of the magistrates; the accused were sitting right in front of him. A Popular History of France from the Earliest Times, Volume 6 I do not believe that there could be found under heaven another man like this exon. A Popular History of France from the Earliest Times, Volume 5 He soon returned, accompanied by an exon of the short robe, named Larchier. A Popular History of France from the Earliest Times, Volume 6 On the 25th of August he returned to Port-Royal, accompanied by a numerous escort of ecclesiastics and exons. A Popular History of France from the Earliest Times, Volume 5 |
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