Alternative splicing and human disease
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
... of disease-associated splic- ing events, the impact of elucidating the contribution of alter- native transcript forms in human disease likely will be ...potential alternative splice forms on a ...
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Coding potential of the products of alternative splicing in human
... or disease conditions. Expres- sion data from 11 adult human tissues are publicly available from the Affymetrix website, and offer a valu- able resource for the study of exon-level expression of ...
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Control of human papillomavirus gene expression by alternative splicing
... Sánchez, 2015 ). Human papillomaviruses comprise the largest group of papillomaviruses. There are over 200 different HPV geno- types identified to date based on full genome sequencing (2012). The majority of HPV ...
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The Expanding Landscape of Alternative Splicing Variation in Human Populations.
... minigene splicing reporter as- says demonstrated its role in regulating the splicing level of SP140 exon 7, such that the T allele is associated with significantly reduced exon ...in splicing among ...
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Alternative splicing in the hippo pathway—implications for disease and potential therapeutic targets
... AS: alternative splicing; NF2: neurofibromin-2; TAD: transcriptional activation domain; YAP∆C: neuronal-specific YAP isoforms (ins13, ins25, and ...(normal human mammary epithelial cells), whereas ...
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Modulation of VEGF-A alternative splicing as a novel treatment in chronic kidney disease.
... 2.3. Alternative Splicing of VEGF-A Human VEGF-A is a major regulator of angiogenesis and vessel permeability [ 11 ...novel alternative 3 0 splice site (distal splice site; DSS) was discovered ...
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The role played by alternative splicing in antigenic variability in human endo parasites
... the alternative splicing of these surface ...faster disease progression, and an increase in the severity of infections and complications in HIV ...alternate splicing may play in the ...
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Genome-wide analysis of gene expression and alternative splicing in human medulloblastoma
... whether alternative treatment options could be used for different disease risk groups to improve the outcome for patients with ...the disease, there is a general consensus that our ability to predict ...
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Pharmacology of Modulators of Alternative Splicing
... The human genome generates up to a million differ- ent proteins from a genetic code that contains just over 20,000 distinct ...and disease are only now becoming understood sufficiently well that ...
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Pharmacology of modulators of alternative splicing
... The human genome generates up to a million differ- ent proteins from a genetic code that contains just over 20,000 distinct ...and disease are only now becoming understood sufficiently well that ...
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Alternative splicing in lung cancer
... lternative splicing is a major contributor to transcriptome and proteome ...of alternative splicing. The alternative use of exons in each transcript may have a profound effect on the biologic ...
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Function of ERBB4 is determined by alternative splicing
... several human adult and fetal tissues, includ- ing brain and heart and the epithelium of several organs, such as the ...ous human and mouse tissues, with high- est expression levels observed in the brain, ...
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Alternative splicing programs in prostate cancer
... many human cancers initially respond to therapies, and in some cases patients are cured, most of them are characterized by disease relapse that often occurs in more aggressive and incurable ...
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Impact of Alternative Splicing on the Human Proteome
... RNA splicing can result in generation of multiple tran- scripts as indicated in this hypothetical example, including different protein coding transcripts (transcripts A–C), as well as transcripts with re- tained ...
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Variation in alternative splicing across human tissues
... versus alternative splice site usage in differ- ent tissues and highlight the liver, brain and testis as having particularly high levels of AS, supporting the idea that tissue- regulated AS plays important roles ...
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Comprehensive identification of alternative back-splicing in human tissue transcriptomes
... canonical splicing, cir- cRNAs are produced from pre-mRNAs and pre-lncRNAs by back-splicing, whereby a downstream 5 splice (donor) site is joined with an upstream 3 splice (acceptor) site ( 3 ...mRNA ...
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
... The human splicing code was assembled using on 1393 carefully designed sequence features extracted from each of the 10,689 alternatively spliced exons and their corresponding PSI values profiled in 16 ...
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Alternative initiation and splicing in dicer gene expression in human breast cells
... in human breast cells we have amplified, cloned and functionally characterized the 5'-leader sequences of human dicer tran- scripts from these ...by alternative splicing of the ...
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The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence
... observed alternative splicing events for a gene or exon of interest, a researcher using ASMD can expect to find a curated list of small mutations that are correlated with alternative splicing ...
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A study of alternative splicing in the pig
... candidate alternative isoforms were identified in the EST data with high ...in human and mouse, we find putative splice variants in about 30% of the contigs with more than 50 ...tissue-specific ...
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