Results 41 to 50 of about 419,485 (330)
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
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
doaj +1 more source
Proceedings of the National Academy of Sciences, 1999 The production of different transcripts (transcript heterogeneity) is a feature of many genes that may result in phenotypic variation. Several mechanisms, that occur at both the DNA and RNA level have been shown to contribute to this transcript heterogeneity in mammals, all of which involve either the rearrangement of sequences within a genome or the ...
Frantz, SA +5 more
openaire +4 more sources
Arquivos de Neuro-Psiquiatria, 2007 Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of
Aline Andrade Freund +5 more
doaj +1 more source
SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]
, 2007 Background: Transposed elements (TEs) are known to affect transcriptomes, because either new exons are generated from intronic transposed elements (this is called exonization), or the element inserts into the exon, leading to a new transcript.
Ast, Gil +4 more
core +3 more sources
Cell, 1991 Using a sensitive assay for RNA expression, we identified several abnormally spliced transcripts in which exons from a candidate tumor suppressor gene (DCC) were scrambled during the splicing process in vivo. Cloning and sequencing of PCR-amplified segments of the abnormally spliced transcripts showed that exons were joined accurately at consensus ...
J M, Nigro +7 more
openaire +2 more sources
The angiotensin-converting enzyme (ACE) gene family of Anopheles gambiae [PDF]
, 2005 Background Members of the M2 family of peptidases, related to mammalian angiotensin converting enzyme (ACE), play important roles in regulating a number of physiological processes.
Burnham, S. +4 more
core +4 more sources
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
core +1 more source
European Psychiatry, 2022 Introduction Disease-causing deletions/amplifications may include a single gene, several exons or single/part of exon, contributing to detection of novel pathogenic genes. The localization of single-gene deletion/amplification within the gene can affect
A. Kashevarova +6 more
doaj +1 more source
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
core +2 more sources