Results 21 to 30 of about 1,695,985 (356)

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source

Copy number variation in bipolar disorder. [PDF]

, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4))
A McQuillin, Cross-Disorder Group of the Psychiatric Genomics Consortium, D Grozeva, D Grozeva, D Grozeva, D Malhotra, D Malhotra, D Zhang, E K Green, E Rees, E Rees, E Rees, EK Green, EK Green, F Degenhardt, G Genovese, G Kirov, G Kirov, G Kirov, I Jones, J L Moran, J T R Walters, JI Nurnberger Jr, JK Wing, K D Chambert, K-G Smith, L Forty, L Georgieva, L Jones, L Priebe, M C O'Donovan, M J Owen, MJ Owen, ML Hamshere, N Craddock, N Craddock, N Craddock, NM Williams, P Sklar, P Sklar, RL Spitzer, RM Murray, S A McCarroll, S Girirajan, S Girirajan, S Purcell, S Purcell, S Ripke, S Steinberg, Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SE Bergen, SE McCarthy, SM Purcell   +53 more
core   +3 more sources

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth, Sabatti, Chiara, Zhang, Zhongyang   +2 more
core   +4 more sources

Gene clustering and copy number variation in alkaloid metabolic pathways of opium poppy

Nature Communications, 2020
Genes in plant secondary metabolic pathways enable biosynthesis of a range of medically and industrially important compounds, and are often clustered on chromosomes.
Qiushi Li, S. Ramasamy, Pooja Singh, J. M. Hagel, Sonja M. Dunemann, Xue Chen, Rongji Chen, Lisa Yu, Joseph E. Tucker, P. Facchini, S. Yeaman   +10 more
semanticscholar   +1 more source

Human amylase gene copy number variation as a determinant of metabolic state [PDF]

, 2018
Introduction Humans have multiple genes encoding amylase that are broadly divided into salivary (AMY1) and pancreatic (AMY2) genes. They exhibit some of the greatest copy numbers of any human gene, an expansion possibly driven by increased dietary ...
Barber, T. (Thomas), Burnett, D., Elder, P. J. D., Ramsden, D. B., Weickert, Martin O.   +4 more
core   +1 more source

Copy Number Variation Analysis of Euploid Pregnancy Loss

Frontiers in Genetics, 2022
Objectives: Copy number variant (CNV) is believed to be the potential genetic cause of pregnancy loss. However, CNVs less than 3 Mb in euploid products of conceptions (POCs) remain largely unexplored. The aim of this study was to investigate the features
Chongjuan Gu, Huan Gao, Kuanrong Li, Xinyu Dai, Zhao Yang, Ru Li, Canliang Wen, Yaojuan He   +7 more
doaj   +1 more source

Rare copy number variation in cerebral palsy [PDF]

, 2013
As per publisher: published online 22 May 2013Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral palsy (CP) is not known.
A MacLennan, A Moreno-De-Luca, A Moreno-De-Luca, A Raj, AJ Verkerk, Alastair MacLennan, Andres Moreno-De-Luca, B Petterson, BJ O'Roak, C Harvard, Catherine Gibson, CG de Kovel, Chloe Shard, Christa Lese Martin, CN Lynex, D Pinto, DP McHale, DP McHale, EM Strijbis, Eric Haan, Evan Eichler, G Cooper, Gai McMichael, HC Mefford, HM Ozgen, J Gardosi, J Molina, JA Veltman, JH Chai, Jillian Nicholl, Jozef Gecz, JR Lupski, KB Nelson, L Feuk, L Potocki, Lam Son Nguyen, M Aza-Carmona, M Garshasbi, M Medina, M Seeger, M Trimborn, ME O'Callaghan, ME O’Callaghan, N Badawi, N Paneth, NJ Wild, P Bauer, P Rosenbaum, PD Evans, R Abou Jamra, R Carrozzo, R Palisano, RR Selzer, S Girirajan, S Girirajan, S Girirajan, Santhosh Girirajan, T Vrijenhoek, W Henke, X Gai   +59 more
core   +1 more source

Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy

Frontiers in Genetics, 2021
The purpose of this study was to explore the copy number variations (CNVs) associated with miscarriage during early and middle pregnancy and provide useful genetic guidance for pregnancy and prenatal diagnosis.
Heming Wu, Heming Wu, Qingyan Huang, Qingyan Huang, Xia Zhang, Xia Zhang, Zhikang Yu, Zhikang Yu, Zhixiong Zhong, Zhixiong Zhong   +9 more
doaj   +1 more source

Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
core   +2 more sources

Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]

, 2020
Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena, Bannasch, Danika, Grahn, Robert, Kallenberg, Angelica, Rebhun, Robert, Weich, Kalie, York, Daniel   +6 more
core   +2 more sources