Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
出版年份 2020 全文链接
标题
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
作者
关键词
-
出版物
Nature Communications
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-05-28
DOI
10.1038/s41467-019-10717-9
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。- Human 5′ UTR design and variant effect prediction from a massively parallel translation assay
- (2019) Paul J. Sample et al. NATURE BIOTECHNOLOGY
- Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
- (2018) Sidi Zhang et al. GENOME RESEARCH
- Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
- (2018) Erin R. Riggs et al. HUMAN MUTATION
- De novo mutations in regulatory elements in neurodevelopmental disorders
- (2018) Patrick J. Short et al. NATURE
- Loss-of-function uORF mutations in human malignancies
- (2018) Julia Schulz et al. Scientific Reports
- Pathogenicity and selective constraint on variation near splice sites
- (2018) Jenny Lord et al. GENOME RESEARCH
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
- (2018) Joon-Yong An et al. SCIENCE
- Mining for Small Translated ORFs
- (2017) Anastasia Chugunova et al. JOURNAL OF PROTEOME RESEARCH
- Classification and function of small open reading frames
- (2017) Juan-Pablo Couso et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
- (2017) Anna E. von Bohlen et al. Molecular Genetics & Genomic Medicine
- Upstream ORFs are prevalent translational repressors in vertebrates
- (2016) Timothy G Johnstone et al. EMBO JOURNAL
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Translational control by 5'-untranslated regions of eukaryotic mRNAs
- (2016) A. G. Hinnebusch et al. SCIENCE
- Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
- (2016) D.G. Evans et al. EBioMedicine
- sORFs.org: a repository of small ORFs identified by ribosome profiling
- (2015) Volodimir Olexiouk et al. NUCLEIC ACIDS RESEARCH
- Many lncRNAs, 5’UTRs, and pseudogenes are translated and some are likely to express functional proteins
- (2015) Zhe Ji et al. eLife
- Quantitative analysis of mammalian translation initiation sites by FACS-seq
- (2014) W. L. Noderer et al. Molecular Systems Biology
- The regulatory potential of upstream open reading frames in eukaryotic gene expression
- (2014) Klaus Wethmar Wiley Interdisciplinary Reviews-RNA
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Gene Expression Regulation by Upstream Open Reading Frames and Human Disease
- (2013) Cristina Barbosa et al. PLoS Genetics
- A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
- (2013) Gianluca Occhi et al. PLoS Genetics
- 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
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- (2009) Yaran Wen et al. NATURE GENETICS
- Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans
- (2009) S. E. Calvo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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