Tdp-43 cryptic exons are highly variable between cell types
Molecular Neurodegeneration, 2017 BackgroundTDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM).
Y. Jeong +9 more
semanticscholar +1 more source
RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts
Genome Research, 2015 Ninety-four percent of mammalian protein-coding exons exceed 51 nucleotides (nt) in length. The paucity of micro-exons (≤ 51 nt) suggests that their recognition and correct processing by the splicing machinery present greater challenges than for longer ...
Yang I Li +3 more
semanticscholar +1 more source
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
Identification of protein features encoded by alternative exons using Exon Ontology.
Genome Research, 2017 Transcriptomic genome-wide analyses demonstrate massive variation of alternative splicing in many physiological and pathological situations. One major challenge is now to establish the biological contribution of alternative splicing variation in ...
L. Tranchevent +15 more
semanticscholar +1 more source
Exons, introns and DNA thermodynamics
, 2005 The genes of eukaryotes are characterized by protein coding fragments, the exons, interrupted by introns, i.e. stretches of DNA which do not carry any useful information for the protein synthesis.
A. Stoltzfus +11 more
core +1 more source
Arginyltransferase, Its Specificity, Putative Substrates, Bidirectional Promoter, and Splicing-derived Isoforms [PDF]
, 2006 Substrates of the N-end rule pathway include proteins with destabilizing N-terminal residues. Three of them, Asp, Glu, and (oxidized) Cys, function through their conjugation to Arg, one of destabilizing N-terminal residues that are recognized directly by
Brower, Christopher S. +7 more
core +2 more sources
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
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
core +1 more source
Genome Research, 2015 Alternative splicing (AS) diversifies transcriptomes and proteomes and is widely recognized as a key mechanism for regulating gene expression. Previously, in an analysis of intron retention events in Arabidopsis, we found unusual AS events inside ...
Yamile Marquez +4 more
semanticscholar +1 more source
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
core +2 more sources