Protein Modularity of Alternatively Spliced Exons Is Associated with Tissue-Specific Regulation of Alternative Splicing. [PDF]
PLoS Genetics, 2005 Recent comparative genomic analysis of alternative splicing has shown that protein modularity is an important criterion for functional alternative splicing events.
Yi Xing, Christopher J Lee
doaj +2 more sources
Intra- and Interspecies Analyses of the Carcinoembryonic Antigen (CEA) Gene Family Reveal Independent Evolution in Primates and Rodents [PDF]
, 1989 Various rodent and primate DNAs exhibit a stronger intra- than interspecies cross-hybridization with probes derived from the N-terminal domain exons of human and rat carcinoembryonic antigen (CEA)-like genes.
Rudert, Fritz +2 more
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Comparative component analysis of exons with different splicing frequencies. [PDF]
PLoS ONE, 2009 Transcriptional isoforms are not just random combinations of exons. What has caused exons to be differentially spliced and whether exons with different splicing frequencies are subjected to divergent regulation by potential elements or splicing signals ...
Shiqin Song +5 more
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
, 2010 Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N +9 more
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Clinical exome performance for reporting secondary genetic findings. [PDF]
, 2014 BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P +6 more
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Inhomogeneous DNA: conducting exons and insulating introns
, 2009 Parts of DNA sequences known as exons and introns play very different role in coding and storage of genetic information. Here we show that their conducting properties are also very different.
A. A. Krokhin +7 more
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Molecular Cell, 2010 Pathways of intron/exon specification that drive spliceosome assembly remain unclear. In this issue of Molecular Cell, Schneider et al. (2010) extensively characterize complexes formed on exons, demonstrating unexpected components and providing insights into the switch from cross-exon to cross-intron interactions.
Moldón, Alberto, Query, Charles
openaire +2 more sources
Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs [PDF]
, 2006 We report the first genome-wide identification and characterization of alternative splicing in human gene transcripts based on analysis of the full-length cDNAs.
Jun-ichi Takeda +65 more
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Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. [PDF]
, 2016 The unintended consequences of gene targeting in mouse models have not been thoroughly studied and a more systematic analysis is needed to understand the frequency and characteristics of off-target effects.
Adkisson, Michael +9 more
core +4 more sources
The Exon-Based Transcriptomic Analysis of Parkinson’s Disease
BiomoleculesParkinson’s disease (PD) is a neurodegenerative disease with a complicated pathophysiology and diagnostics. Blood-based whole transcriptome analysis of the longitudinal PPMI cohort was performed with a focus on the change in the expression of exons to ...
Sulev Kõks
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