Results 81 to 90 of about 1,695,985 (356)

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

BMC Bioinformatics, 2021
Background As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or ...
Dayne L. Filer, Fengshen Kuo, Alicia T. Brandt, Christian R. Tilley, Piotr A. Mieczkowski, Jonathan S. Berg, Kimberly Robasky, Yun Li, Chris Bizon, Jeffery L. Tilson, Bradford C. Powell, Darius M. Bost, Clark D. Jeffries, Kirk C. Wilhelmsen   +13 more
doaj   +1 more source

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Genetics in Medicine, 2018
We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders.
R. Truty, Joshua S. Paul, M. Kennemer, S. Lincoln, Eric C. Olivares, R. Nussbaum, S. Aradhya   +6 more
semanticscholar   +1 more source

In vivo evidence for glycyl radical insertion into a catalytically inactive variant of pyruvate formate‐lyase

FEBS Letters, EarlyView.
Dimeric pyruvate formate‐lyase cleaves pyruvate using a radical‐based mechanism. G734 serves as a radical storage location, and the radical is transferred to the catalytic C419 residue. Mutation of the C418‐C419 pair causes loss of enzyme activity, but does not impede radical introduction onto G734. Therefore, cis‐ but not trans‐radical transfer occurs
Michelle Kammel, A. F. Volker Wagner, R. Gary Sawers   +2 more
wiley   +1 more source

Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization [PDF]

, 2013
BACKGROUND: Copy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number ...
Chungang Feng, Ming Tian, Ning Li, Suyun Fang, Xiaorong Gu, Xiaoxiang Hu, Yanqiang Wang   +6 more
core   +1 more source

Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]

Genomics & Informatics, 2012
We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj   +1 more source

P‐glycoprotein modulates the fluidity gradient of the plasma membrane of multidrug resistant CHO cells

FEBS Letters, EarlyView.
To explore the impact of the overexpression of the multidrug‐transporter P‐glycoprotein (ABCB1) on membrane fluidity, we compared the transversal gradient of mobility and microviscosity in plasma membranes of drug‐sensitive Chinese hamster ovary cells (AuxB1) and their multidrug‐resistant derivatives (B30) using the fluorescent n‐(9‐anthroyloxy) fatty ...
Roger Busche, John R. Riordan, Burkhard Tümmler   +2 more
wiley   +1 more source

Germline copy number variation and ovarian cancer survival

Frontiers in Genetics, 2012
Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley, Prabhakar eChalise, Ya-Yu eTsai, Zhifu eSun, Robert A. Vierkant, Melissa C. Larson, Julie M. Cunningham, Edwin S. Iversen, David eFenstermacher, Jill eBarnholtz-Sloan, Yan eAsmann, Harvey A. Risch, Joellen eSchildkraut, Catherine M. Phelan, Rebecca eSutphen, Thomas A. Sellers, Ellen L. Goode   +16 more
doaj   +1 more source

Whole-genome sequencing reveals high complexity of copy number variation at insecticide resistance loci in malaria mosquitoes

bioRxiv, 2018
Background Polymorphisms in the copy number of a genetic region can influence gene expression, coding sequence and zygosity, making them powerful actors in the evolutionary process.
E. Lucas, A. Miles, N. Harding, Chris S. Clarkson, Mara K. N. Lawniczak, D. Kwiatkowski, D. Weetman, M. Donnelly   +7 more
semanticscholar   +1 more source

Evolutionary interplay between viruses and R‐loops

FEBS Letters, EarlyView.
Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi, Zita Képes, Zoltán Szabó, Eszter Csoma, Lóránt Székvölgyi   +4 more
wiley   +1 more source

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity [PDF]

, 2017
Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on ...
Armour, John A.L., Carpenter, Danielle, Mitchell, Laura   +2 more
core   +3 more sources