Results 11 to 20 of about 288,493 (295)

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

Neural Plasticity, 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   +7 more sources

Perspective: DNA Copy Number Variations in Cardiovascular Diseases. [PDF]

Epigenet Insights, 2018
Human genome contains many variations, often called mutations, which are difficult to detect and have remained a challenge for years. A substantial part of the genome encompasses repeats and when such repeats are in the coding region they may lead to change in the gene expression profile followed by pathological conditions.
Vijay A, Garg I, Ashraf MZ.
europepmc   +4 more sources

DNA Copy Number Variations as Markers of Mutagenic Impact. [PDF]

Int J Mol Sci, 2019
DNA copy number variation (CNV) occurs due to deletion or duplication of DNA segments resulting in a different number of copies of a specific DNA-stretch on homologous chromosomes. Implications of CNVs in evolution and development of different diseases have been demonstrated although contribution of environmental factors, such as mutagens, in the ...
Hovhannisyan G, Harutyunyan T, Aroutiounian R, Liehr T.   +3 more
europepmc   +3 more sources

DNA methylation episignatures: insight into copy number variation

Epigenomics, 2022
In this review we discuss epigenetic disorders that result from aberrations in genes linked to epigenetic regulation. We describe current testing methods for the detection of copy number variants (CNVs) in Mendelian disorders, dosage sensitivity, reciprocal phenotypes and the challenges of test selection and overlapping clinical features in genetic ...
Liselot van der Laan, Kathleen Rooney, Tessa MA Trooster, Marcel MAM Mannens, Bekim Sadikovic, Peter Henneman   +5 more
openaire   +3 more sources

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source

Genome Architecture and Its Roles in Human Copy Number Variation [PDF]

Genomics & Informatics, 2014
Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases.
Lu Chen, Weichen Zhou, Ling Zhang, Feng Zhang   +3 more
doaj   +1 more source

Mitochondrial DNA copy number variation across human cancers

eLife, 2016
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched
Reznik, Ed, Miller, Martin L, Şenbabaoğlu, Yasin, Riaz, Nadeem, Sarungbam, Judy, Tickoo, Satish K, Al-Ahmadie, Hikmat A, Lee, William, Seshan, Venkatraman E, Hakimi, A Ari, Sander, Chris   +10 more
openaire   +5 more sources

DNA Copy Number Variation Associated with Anti-tumour Necrosis Factor Drug Response and Paradoxical Psoriasiform Reactions in Patients with Moderate-to-severe Psoriasis

Acta Dermato-Venereologica, 2021
Biological drugs targeting tumour necrosis factor are effective for psoriasis. However, 30–50% of patients do not respond to these drugs and may even develop paradoxical psoriasiform reactions.
Ancor Sanz-Garcia, Alejandra Reolid, Laura H. Fisas, Ester Muñoz-Aceituno, Mar Llamas-Velasco, Antonio Sahuquillo-Torralba, Rafael Botella-Estrada, Jorge García-Martínez, Raquel Navarro, Esteban Daudén, Francisco Abad-Santos, Maria C. Ovejero-Benito   +11 more
doaj   +1 more source

DNA copy number variations characterize benign and malignant thyroid tumors. [PDF]

J Clin Endocrinol Metab, 2013
Fine-needle aspiration (FNA) is the best diagnostic tool for preoperative evaluation of thyroid nodules but is often inconclusive as a guide for surgical management.Our hypothesis was that thyroid tumor subtypes may show characteristic DNA copy number variation (CNV) patterns, which may further improve the preoperative classification.Our study cohorts ...
Liu Y, Cope L, Sun W, Wang Y, Prasad N, Sangenario L, Talbot K, Somervell H, Westra W, Bishop J, Califano J, Zeiger M, Umbricht C.   +12 more
europepmc   +3 more sources

Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]

Genomics & Informatics, 2012
In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim, Ji-Hong Kim, Yeun-Jun Chung   +2 more
doaj   +1 more source