Results 41 to 50 of about 790,983 (253)

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 ...
George Kirov, Patrick F. Sullivan, Jennifer L. Moran, David St Clair, Pamela Sklar, Christina M. Hultman, Christina M. Hultman, Elizabeth Suchi Chen, Patrick Magnusson, Carlos N. Pato, Carl Ernst, Douglas Blackwood, James F. Gusella, Michael J. Owen, Kim Chambert, Michael Conlon O'Donovan, Hugh Gurling, Aiden Corvin, Carolina Oliveira Gigek, Douglas M. Ruderfer, Douglas M. Ruderfer, Douglas M. Ruderfer, Michael E. Talkowski, Shaun Purcell, Shaun Purcell, Shaun Purcell   +25 more
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Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +3 more sources

Copy number variation is highly correlated with differential gene expression: a pan-cancer study

BMC Medical Genetics, 2019
BackgroundCancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through the alterations of their gene ...
Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu, Xiaohui Fan   +7 more
semanticscholar   +1 more source

Adaptation by copy number variation increases insecticide resistance in the fall armyworm

Communications Biology, 2020
Understanding the genetic basis of insecticide resistance is a key topic in agricultural ecology. The adaptive evolution of multi-copy detoxification genes has been interpreted as a cause of insecticide resistance, yet the same pattern can also be ...
S. Gimenez, H. Abdelgaffar, G. L. Goff, F. Hilliou, C. Blanco, Sabine Hänniger, A. Bretaudeau, F. Legeai, N. Negre, J. Jurat-Fuentes, E. d’Alençon, Kiwoong Nam   +11 more
semanticscholar   +1 more source

Copy number variation in familial Parkinson disease.

PLoS ONE, 2011
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories   +13 more
doaj   +1 more source

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Molecular Genetics & Genomic Medicine, 2020
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani   +12 more
doaj   +1 more source

A Copy Number Variation Morbidity Map of Developmental Delay

Nature Genetics, 2011
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate
G. Cooper, Bradley P. Coe, S. Girirajan, J. Rosenfeld, Tiffany H. Vu, Carl A. Baker, C. Williams, H. Stalker, R. Hamid, V. Hannig, H. Abdel-Hamid, P. Bader, Elizabeth McCracken, D. Niyazov, K. Leppig, Heidi A. Thiese, M. Hummel, Nora Alexander, J. Gorski, J. Kussmann, V. Shashi, Krys Johnson, C. Rehder, B. Ballif, L. Shaffer, E. Eichler   +25 more
semanticscholar   +1 more source

Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer

Pathology and Oncology Research, 2022
Background: Histone deacetylase (HDAC) plays a crucial role in regulating the expression and activity of a variety of genes associated with tumor progression and immunotherapeutic processes.
Shuming Yang, Shengzhi Xie, Xinying Shi, Dan Su, Bo He, Yang Xu, Zhefeng Liu   +6 more
doaj   +1 more source

New Copy Number Variations in Schizophrenia

PLoS ONE, 2010
Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these rare CNVs to schizophrenia remains unknown.
MAGRI, Chiara, SACCHETTI, Emilio, TRAVERSA, Michele, VALSECCHI, Paolo, GARDELLA, Rita, Bonvicini, C, MINELLI, Alessandra, GENNARELLI, Massimo, BARLATI, Sergio   +8 more
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Genome wide landscaping of copy number variations for horse inter-breed variability

Animal Biotechnology
Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia ...
Nitesh Kumar Sharma, Prashant Singh, Bibek Saha, Anuradha Bhardwaj, Mir Asif Iquebal, Yash Pal, Varij Nayan, Sarika Jaiswal, Shiv Kumar Giri, Ram Avatar Legha, T. K. Bhattacharya, Dinesh Kumar, Anil Rai   +12 more
doaj   +1 more source