Results 91 to 100 of about 9,740,536 (302)

Population Genetic Nature of Copy Number Variation

, 2012
Copy number variation has recently received considerable attention, and copy number variants (CNVs) have been shown to be both common in mammalian genomes and important for understanding genetic and phenotypic variation.
Sjödin, Per,, Jakobsson, Mattias,
core   +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

Challenges in Clinico-Genetic Correlations in Parkinson’s disease (PD): The Role of Copy Number Variants (CNV) [PDF]

, 2021
Parkinson’s disease (PD) represents the second most common neurodegenerative disease and remains incurable. Mutations in multiple genes have been linked to monogenic PD (gPD); these monogenic forms, however, represent a small number of cases while in ...
Perandones, Claudia, González Rojas, Natalia, Gatto, Emilia Mabel, Etcheverry, José Luis, Cesarini, Martin Emiliano, Radrizzani Helguera, Martin   +5 more
core   +2 more sources

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Number of singleton copy number variants (CNVs) in each population.

, 2015
Number of singleton copy number variants (CNVs) in each population.
Cathal Seoighe (2731), Ayton Meintjies (713026), Emile R. Chimusa (458881), Nicola Mulder (2995), Rajkumar Ramesar (240975), Milaine Tchanga (713027), Himla Soodyall (165519)   +6 more
core   +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

L‐aspartate oxidase provides new insights into fumarate reduction in anaerobic darkness in Synechocystis sp. PCC6803

FEBS Letters, EarlyView.
Synechocystis strains deficient in succinate dehydrogenase (SDH) secrete more succinate than the WT under dark anaerobic conditions, supporting that SDH then primarily acts as SDH, not as a fumarate reductase. L‐aspartate oxidase (Laspo) from Synechocystis is functional under anaerobic conditions, reducing fumarate to succinate.
Kateryna Kukil, Jeffrey A. Hawkes, Cecilia Blikstad, Pia Lindberg   +3 more
wiley   +1 more source

Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution [PDF]

, 2008
BACKGROUND: Comparative genomics is a powerful means of establishing inter-specific relationships between gene function/location and allows insight into genomic rearrangements, conservation and evolutionary phylogeny.
Griffin, D.K., Gaginskaya, E., Robertson, L. B., Völker Martin, Masabanda, Julio S., Burt, D.W., Valérie Fillon, Svetlana Deryusheva, Robertson Lindsay B, Griffin Darren K, Fillon, V., Masabanda, J. S., Martin Völker, Richard Talbot, Crooijmans, Richard P.M.A., Darren K Griffin, Gaginskaya, Elena, Vignal Alain, Martien AM Groenen, Crooijmans, Richard P. M. A., Dave W Burt, Groenen, M.A.M., Burt Dave W, Robertson, L.B., Griffin, D. K., Burt, D. W., Helen G Tempest, Carre, Wilfrid, Vignal, Alain, Julio S Masabanda, Crooijmans, R.P.M.A., Burt, Dave W, Tempest, H.G., Groenen, Martien A. M., Griffin, Darren K., Deryusheva, Svetlana, Waddington David, Talbot, Richard, Waddington, D., Robertson, Lindsay B., Robertson, Lindsay, Carré Wilfrid, Masabanda, Julio S, Groenen, Martien AM, Tempest, Helen G., Gaginskaya Elena, Fillon Valérie, Burt, Dave W., Waddington, David, Tempest, H. G., Groenen Martien AM, Fillon, Valerie, Lindsay B Robertson, Talbot Richard, Crooijmans, R. P., Deryusheva, S., Elena Gaginskaya, Masabanda Julio S, Tempest Helen G, Volker, Martin, Crooijmans, Richard PMA, Groenen, M. A., David Waddington, Deryusheva Svetlana, Talbot, R., Wilfrid Carré, Richard PMA Crooijmans, Masabanda, J.S., Vignal, A., Alain Vignal, Burt, David W., Crooijmans Richard PMA, Volker, M., Carre, W.   +73 more
core   +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

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source