Results 1 to 10 of about 1,217,732 (304)

Copy Number Variations in Neuropsychiatric Disorders

International Journal of Molecular Sciences, 2023
Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki, Kinga Hadzsiev, Judit Bene   +2 more
openaire   +2 more sources

Glyoxalase 1 copy number variation in patients with well differentiated gastroentero-pancreatic neuroendocrine tumours (GEP-NET) [PDF]

, 2017
Background: The glyoxalase-1 gene (GLO1) is a hotspot for copy-number variation (CNV) in human genomes. Increased GLO1 copy-number is associated with multidrug resistance in tumour chemotherapy, but prevalence of GLO1 CNV in gastro-entero-pancreatic ...
Dimitriadis, Georgios K., Fisk, Adrian, Gopalakrishnan, Kishore, Grammatopoulos, Dimitris, James, Sean G., Kaltsas, Gregory, Qaiser, Talha, Rabbani, Naila, Rajpoot, Nasir M., Shafie, Alaa, Thornalley, Paul J., Weickert, Martin O., Xue, Mingzhan   +12 more
core   +1 more source

Copy Number Variation in Tourette Syndrome [PDF]

Neuron, 2017
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Anne S, Bassett, Stephen W, Scherer
openaire   +2 more sources

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

Large scale variation in DNA copy number in chicken breeds [PDF]

, 2013
Background Detecting genetic variation is a critical step in elucidating the molecular mechanisms underlying phenotypic diversity. Until recently, such detection has mostly focused on single nucleotide polymorphisms (SNPs) because of the ease in ...
Cheng, Hans H, Crooijmans, Richard Pma, Fife, Mark S, Fitzgerald, Tomas W, Groenen, Martien Am, Kaiser, Pete, Redon, Richard, Strickland, Shurnevia   +7 more
core   +5 more sources

Copy number variation in salivary amylase: A participant-based study on genetic variation. [PDF]

The Young Researcher, 2017
Amylase (AMY1) is an enzyme found in the mouth that is used to help digest carbohydrates. It has been found that the copy number of AMY1 has been positively associated with protein levels within an individual and also that individual’s population.
Phillips, E.
doaj  

Estimation of tumor heterogeneity using CGH array data [PDF]

, 2009
Background Array-based comparative genomic hybridization (CGH) is a commonly-used approach to detect DNA copy number variation in whole genome-wide screens.
Li Shengting, Li Jian, Wang Kai, Bolund Lars, Wiuf Carsten   +4 more
core   +2 more sources

Mosaic copy number variation in schizophrenia [PDF]

European Journal of Human Genetics, 2013
Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
Douglas M, Ruderfer, Kim, Chambert, Jennifer, Moran, Michael, Talkowski, Elizabeth S, Chen, Carolina, Gigek, James F, Gusella, Douglas H, Blackwood, Aiden, Corvin, Hugh M, Gurling, Christina M, Hultman, George, Kirov, Patrick, Magnusson, Michael C, O'Donovan, Michael J, Owen, Carlos, Pato, David, St Clair, Patrick F, Sullivan, Shaun M, Purcell, Pamela, Sklar, Carl, Ernst   +20 more
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Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance. [PDF]

, 2019
Plasmodium vivax invasion of human erythrocytes depends on the Duffy Binding Protein (PvDBP) which interacts with the Duffy antigen. PvDBP copy number has been recently shown to vary between P. vivax isolates in Sub-Saharan Africa. However, the extent of
Ford, Anthony, Gunalan, Karthigayan, Hamid, Muzamil MA, Hostetler, Jessica B, Janies, Daniel A, Kepple, Daniel, Lo, Eugenia, Miller, Louis H, Pearson, Richard D, Rayner, Julian C, Yan, Guiyun, Yewhalaw, Delenasaw   +11 more
core   +2 more sources

Copy number variation in Parkinson's disease [PDF]

Genome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Toft, Mathias, Ross, Owen A
openaire   +2 more sources