Results 71 to 80 of about 10,451,845 (193)

Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

Frontiers in Genetics, 2022
Background/objective: Identification of key genetic alterations is of importance in the targeted therapies of primary central nervous system lymphoma (PCNSL). However, only a small number of studies have been carried out in PCNSL.
Qiong Zhu, Jianchao Wang, Wenfang Zhang, Weifeng Zhu, Zaizeng Wu, Yanping Chen, Musheng Chen, Limei Zheng, Jianqing Tang, Sheng Zhang, Di Wang, Xingfu Wang, Gang Chen   +12 more
doaj   +1 more source

Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire   +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
openaire   +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

Copy number variation in the bovine genome [PDF]

BMC Genomics, 2010
Abstract Background Copy number variations (CNVs), which represent a significant source of genetic diversity in mammals, have been shown to be associated with phenotypes of clinical relevance and to be causative of disease. Notwithstanding, little is known about the extent to which CNV contributes to genetic variation
Fadista, João, Thomsen, Bo; id_orcid 0000-0001-9622-0929, Holm, Lars-Erik, Bendixen, Christian   +3 more
openaire   +3 more sources

Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies

Orphanet Journal of Rare Diseases, 2021
Background To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation ...
Ying Zhu, Ruyi Wang, Yun Cheng, Yang Han, Tengyan Li, Yunxia Cao, Binbin Wang   +6 more
doaj   +1 more source

Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization

, 2015
Global patterns of copy number variations (CNVs) in chromosomes are required to understand the dynamics of genome organization and complexity. For this study, analysis was performed using the Affymetrix Genome-Wide Human SNP Array 6.0 chip and CytoScan ...
Veerappa, A. M., Suresh, R. V., Manjegowda, D. S., Veerappa, Avinash M., Vishweswaraiah, S., Ramachandra, N. B., Padakannaya, Prakash, Lingaiah, K., Vishweswaraiah, Sangeetha, Ramachandra, Nallur B., Manjegowda, Dinesh S., Suresh, Raviraj V., Murthy, Megha, Lingaiah, Kusuma, Padakannaya, P., Murthy, M.   +15 more
core   +1 more source

Trf4 targets ncRNAs from telomeric and rDNA spacer regions and functions in rDNA copy number control [PDF]

, 2007
Trf4 is the poly(A) polymerase component of TRAMP4, which stimulates nuclear RNA degradation by the exosome. We report that in Saccharomyces cerevisiae strains lacking Trf4, cryptic transcripts are detected from regions of repressed chromatin at ...
Houseley, Jonathan, Kotovic, Kimberly, Tollervey, David, El Hage, Aziz   +3 more
core   +1 more source

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact [PDF]

, 2022
Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can ...
Commission on Novel Technologies for Neurodevelopmental Copy Number Variants
core   +1 more source

The significance of copy number variations in schizophrenia [PDF]

British Journal of Psychiatry, 2014
Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire   +3 more sources