نتایج جستجو برای: de novo
تعداد نتایج: 1534710 فیلتر نتایج به سال:
BACKGROUND Apparently balanced chromosomal rearrangements can be associated with an abnormal phenotype, including intellectual disability and autism spectrum disorder (ASD). Genome-wide microarrays reveal cryptic genomic imbalances, related or not to the breakpoints, in 25% to 50% of patients with an abnormal phenotype carrying a microscopically balanced chromosomal rearrangement. Here we perfo...
Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the ‘‘classical’’ epileptic encephalopathies, infantil...
Whether Golgi biogenesis occurs by self-assembly or around a pre-existing template is currently a matter of debate. Recent studies have shown that Golgi structural proteins are more dynamic than previously thought, suggesting that self-assembly of the Golgi complex may be possible.
We describe an alternative peroxisome formation pathway in yeast pex3 and pex19 cells, which relies on the existence of small peroxisomal remnants that are present in these cells. This groundbreaking result challenges current models prescribing that peroxisomes derive de novo from the ER. Our data also has major implications for the sorting pathway of specific peroxisomal membrane proteins (PMP...
Overview MS/MS spectra of known and unknown peptides were used to study the performance of several de novo sequencing and database search programs. Proteins of the unknown peptides are not in databases, thereby necessitating de novo sequencing for identification. Three de novo sequencing programs, PEAKS, BioAnalyst, and Lutefisk were compared in this study. PEAKS provided the most reliabl...
Clinical practice guideline (CPG) activities must be planned carefully for efficient use of available resources and evidence-based implementation. De novo development of CPGs may sometimes 'recreate the wheel' and delay implementation. Three innovative alternatives to de novo CPG development (adopt, contextualise or adapt) are outlined, which have greater potential than de novo development to b...
Where do new genes come from? For a long time the answer to that question has simply been ‘‘from other genes’’. The most prolific source of new loci in eukaryotic genomes is gene duplication in all its guises: exon shuffling, tandem duplication, retrocopying, segmental duplication, and genome duplication. However, in recent years there has been a growing appreciation of the oft-dismissed possib...
The challenging field of de novo enzyme design is beginning to produce exciting results. The application of powerful computational methods to functional protein design has recently succeeded at engineering target activities. In addition, efforts in directed evolution continue to expand the transformations that can be accomplished by existing enzymes. The engineering of completely novel catalyti...
An unparalleled amount of sequence data is being made available from large-scale genome sequencing efforts. The data provide a shortcut to the determination of the function of a gene of interest, as long as there is an existing sequenced gene with similar sequence and of known function. This has spurred structural genomic initiatives with the goal of determining as many protein folds as possibl...
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