Results 71 to 80 of about 125,484 (288)
BMC Genomics, 2007 Background Changes in genomic copy number occur in many human diseases including cancer. Characterization of these changes is important for both basic understanding and diagnosis of these diseases. Microarrays have recently become the standard technique
Nakagawara Akira +6 more
doaj +1 more source
iScience, 2021 Summary: Long-lived organisms are exposed to the risk of accumulating mutations due to DNA damage. Previous studies in animals have revealed the positive relationship between the copy number of DNA repair genes and longevity.
Yuta Aoyagi Blue +2 more
doaj +1 more source
FEBS Letters, EarlyView.The physical dimensions and shape of bacterial cells define the surface area available to acquire nutrients and the volume available for synthesizing proteins and DNA. Here, we use computational systems biology to decode the importance of cell geometry as a major determinant of prokaryotic phenotype, including growth rate and metabolic efficiency. This
Ross P. Carlson +6 more
wiley +1 more source
Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. [PDF]
PLoS ONE, 2008 Copy Number Variations (CNVs) of regions of the human genome have been associated with multiple diseases. We present an algorithm which is mathematically sound and computationally efficient to accurately analyze CNV in a DNA sample utilizing a ...
Simant Dube +2 more
doaj +1 more source
FEBS Letters, EarlyView.We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace +6 more
wiley +1 more source
FSHD: copy number variations on the theme of muscular dystrophy [PDF]
, 2010 In humans, copy number variations (CNVs) are a common source of phenotypic diversity and disease susceptibility. Facioscapulohumeral muscular dystrophy (FSHD) is an important genetic disease caused by CNVs.
Daphne Selvaggia Cabianca +1 more
core +1 more source
Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2017 Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively.
Maki Fukami, Mami Miyado
doaj +1 more source
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Biomedical Journal, 2021 Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host-microbiome interactions.
Ondrej Pös +8 more
openaire +4 more sources
Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]
, 2011 Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz +2 more
core +1 more source