Results 61 to 70 of about 188,720 (256)

Impact of constitutional copy number variants on biological pathway evolution

BMC Evolutionary Biology, 2013
Background Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations.
Poptsova Maria, Banerjee Samprit, Gokcumen Omer, Rubin Mark A, Demichelis Francesca   +4 more
doaj   +1 more source

Gene Copy Number Variation Does Not Reflect Structure or Environmental Selection in Two Recently Diverged California Populations of Suillus brevipes

G3: Genes, Genomes, Genetics, 2020
Gene copy number variation across individuals has been shown to track population structure and be a source of adaptive genetic variation with significant fitness impacts.
Anna L. Bazzicalupo, Mallory Thomas, Robert Mason, Munro-Ehrlich, Sara Branco   +4 more
doaj   +1 more source

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

BMC Bioinformatics, 2021
Background Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data.
Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano   +2 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

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, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Association of Rare Copy Number Variants With Risk of Depression [PDF]

JAMA Psychiatry, 2019
The role of large, rare copy number variants (CNVs) in neuropsychiatric disorders is well established, but their association with common psychiatric disorders, such as depression, remains unclear.To examine the association of a group of 53 CNVs associated with neurodevelopmental disorders and burden of rare CNVs with risk of depression.This case ...
Kendall, Kimberley Marie, Rees, Elliott, Bracher-Smith, Matthew, Legge, Sophie, Riglin, Lucy, Zammit, Stanley, O'Donovan, Michael Conlon, Owen, Michael John, Jones, Ian, Kirov, George, Walters, James Tynan Rhys   +10 more
openaire   +5 more sources

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, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Copy number variation across European populations.

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide ...
Wanting Chen, Caroline Hayward, Alan F Wright, Andrew A Hicks, Veronique Vitart, Sara Knott, Sarah H Wild, Peter P Pramstaller, James F Wilson, Igor Rudan, David J Porteous   +10 more
doaj   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Next-generation variant exon screening: Moving forward in routine genetic disease investigations

Genetics in Medicine Open
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify
Conghui Wang, Panlai Shi, Hongbin Liang, David S. Cram, Donald A. Leigh, Xiangdong Kong   +5 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source