Results 111 to 120 of about 475,380 (299)

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

Molecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck, Nele De Meulenaere, Thomas Vanpoucke, Joe Ibrahim, Dieter Peeters, Suresh Krishan Yogeswaran, Wen Wen, Paul Van Schil, Jeroen M. H. Hendriks, Jo Raskin, Jan van Meerbeeck, Guy Van Camp, Ken Op de Beeck   +12 more
wiley   +1 more source

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients

Cell Journal, 2016
Objective: Pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. Over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of ...
Fatemeh Bahreini, Massoud Houshmand, Mohammad Hossein Modaresi, Hassan Tonekaboni, Shahriar Nafissi, Ferdoss Nazarisi, Seyed Mohammad Akrami   +6 more
doaj  

Comparison of autism domains across thirty rare variant genotypesResearch in context

EBioMedicine
Summary: Background: A number of Neurodevelopmental risk Copy Number Variants (ND-CNVs) and Single Gene Variants (SGVs) are strongly linked to elevated likelihood of autism.
Nabila M.H. Ali, Samuel J.R.A. Chawner, Leila Kushan-Wells, Carrie E. Bearden, Jennifer Gladys Mulle, Rebecca M. Pollak, Raquel E. Gur, Wendy K. Chung, Michael J. Owen, Marianne B.M. van den Bree, Harriet Housby, Irene Lee, David Skuse, Jeanne Wolstencroft, William Mandy, Spiros Denaxas, Kate Baker, Lucy Raymond, Marianne van den Bree, Samuel Chawner, Jeremy Hall, Peter Holmans, Josh Hope-Bell, Danielle Le Roux, Sally Morrin, Michael Owen, Shreeya Sivakumar   +26 more
doaj   +1 more source

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

bioRxiv, 2018
Background Genetic risk for bipolar disorder (BD) is conferred through many common alleles, while a role for rare copy number variants (CNVs) is less clear. BD subtypes schizoaffective disorder bipolar type (SAB), bipolar I disorder (BD I) and bipolar II
A. Charney, E. Stahl, E. Green, Chia-Yen Chen, J. Moran, K. Chambert, R. Belliveau, L. Forty, K. Gordon-Smith, Phil H. Lee, E. Bromet, P. Buckley, M. Escamilla, A. Fanous, L. Fochtmann, D. Lehrer, D. Malaspina, S. Marder, C. Morley, H. Nicolini, D. Perkins, J. Rakofsky, M. Rapaport, H. Medeiros, J. Sobell, L. Backlund, Sarah E. Bergen, A. Jureus, M. Schalling, P. Lichtenstein, J. Knowles, K. Burdick, I. Jones, L. Jones, C. Hultman, R. Perlis, S. Purcell, S. Mccarroll, C. Pato, M. Pato, A. D. Florio, N. Craddock, M. Landén, J. Smoller, D. Ruderfer, P. Sklar   +45 more
semanticscholar   +1 more source

Copy Number Variants: Deletion and Duplication Syndromes

Annual Review of Genomics and Human Genetics
Rare genetic variants have illuminated mechanisms of common diseases and have even led to novel treatment approaches. Some copy number variants (CNVs) have been associated with extraordinary risk for complex neuropsychiatric phenotypes and thus offer a valuable entry point for investigating the biological mechanisms and pathways underlying autism ...
Matthew K, Harner, Daniela V, Bishop, Rebecca M, Pollak, Ryan H, Purcell, Jennifer G, Mulle   +4 more
openaire   +2 more sources

Detection of circulating tumor DNA in colorectal cancer patients using a methylation‐specific droplet digital PCR multiplex

Molecular Oncology, EarlyView.
We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto, Louise Raunkilde, Jan Lindebjerg, Mads Malik Aagaard, Christina Therkildsen, Jakob Kleif, Lars Henrik Jensen, Torben Frøstrup Hansen, Rikke Fredslund Andersen   +8 more
wiley   +1 more source

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

npj Genomic Medicine, 2018
Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely pathogenic de novo or inherited single nucleotide variants (SNV) in 14% (14/98) of trios by ...
M. Corbett, C. V. van Eyk, D. L. Webber, S. Bent, Morgan Newman, K. Harper, J. Berry, D. Azmanov, K. Woodward, A. Gardner, J. Slee, L. Pérez-Jurado, A. Maclennan, J. Gécz   +13 more
semanticscholar   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Genetic copy number variants in myocardial infarction patients with hyperlipidemia

BMC Genomics, 2011
Background Cardiovascular disease is the chief cause of death in Taiwan and many countries, of which myocardial infarction (MI) is the most serious condition.
Shia Wei-Chung, Ku Tien-Hsiung, Tsao Yu-Ming, Hsia Chien-Hsun, Chang Yung-Ming, Huang Ching-Hui, Chung Yeh-Ching, Hsu Shih-Lan, Liang Kae-Woei, Hsu Fang-Rong   +9 more
doaj   +1 more source

Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank

bioRxiv, 2018
Schizophrenia is a highly heritable disorder for which anatomical brain alterations have been repeatedly reported in clinical samples. Unaffected at-risk groups have also been studied in an attempt to identify brain changes that do not reflect reverse ...
Anthony Warland, K. Kendall, E. Rees, G. Kirov, X. Caseras   +4 more
semanticscholar   +1 more source