Results 41 to 50 of about 200,918 (285)

The landscape of copy number variations in classical Hodgkin lymphoma: a joint KU Leuven and LYSA study on cell-free DNA.

Blood Advances, 2021
The low abundance of Hodgkin/Reed-Sternberg (HRS) cells in lymph node biopsies in classical Hodgkin lymphoma (cHL) complicates the analysis of somatic genetic alterations in HRS cells.
L. Buedts, I. Wlodarska, Julio Finalet-Ferreiro, O. Gheysens, L. Dehaspe, T. Tousseyn, L. Fornecker, J. Lazarovici, R. Casasnovas, A. Gac, C. Bonnet, K. Bouabdallah, C. Copie-Bergman, B. Fabiani, D. Dierickx, L. Marcelis, J. Vermeesch, M. André, P. Vandenberghe   +18 more
semanticscholar   +1 more source

Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]

Genomics & Informatics, 2014
Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang, Sohyun Hwang, Woo-Yeon Kim, Seong-Jin Park, Sang Cheol Kim, Kiejung Park, Byungwook Lee,   +7 more
doaj   +1 more source

A genetic risk score for glioblastoma multiforme based on copy number variations

Cancer Treatment and Research Communications, 2021
Glioblastoma multiforme is the most common form of brain cancer. Several lines of evidence suggest that glioblastoma multiforme has a genetic basis. A genetic test that could identify people who are at high risk of developing glioblastoma multiforme ...
Charmeine Ko, James P. Brody
doaj   +1 more source

Influence of environmental factors and genetic variation on mitochondrial DNA copy number

Journal of Animal Science, 2022
Abstract Mitochondrial DNA copy number (mtDNA CN) has been shown to be highly heritable and associated with traits of interest in humans. However, studies are lacking in the literature for livestock species such as beef cattle. In this study, 2,371 individuals from a crossbred beef population comprising the Germplasm Evaluation program ...
Leticia P Sanglard, Larry A Kuehn, Warren M Snelling, Matthew L Spangler   +3 more
openaire   +4 more sources

New Regions With Molecular Alterations in a Rare Case of Insulinomatosis: Case Report With Literature Review

Frontiers in Endocrinology, 2021
Insulinomatosis is characterized by monohormonality of multiple macro-tumors and micro-tumors that arise synchronously and metachronously in all regions of the pancreas, and often recurring hypoglycemia. One of the main characteristics of insulinomatosis
Kirill Anoshkin, Ivan Vasilyev, Kristina Karandasheva, Mikhail Shugay, Mikhail Shugay, Mikhail Shugay, Valeriya Kudryavtseva, Valeriya Kudryavtseva, Alexey Egorov, Larisa Gurevich, Anna Mironova, Alexey Serikov, Sergei Kutsev, Vladimir Strelnikov   +13 more
doaj   +1 more source

Regional variation in mitochondrial DNA copy number in mouse brain

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2011
Mitochondria have their own DNA (mitochondrial DNA [mtDNA]). Although mtDNA copy number is dependent on tissues and its decrease is associated with various neuromuscular diseases, detailed distribution of mtDNA copies in the brain remains uncertain. Using real-time quantitative PCR assay, we examined regional variation in mtDNA copy number in 39 brain ...
Fuke, Satoshi, Kubota-Sakashita, Mie, Kasahara, Takaoki, Shigeyoshi, Yasufumi, Kato, Tadafumi   +4 more
openaire   +2 more sources

Copy number variations in urine cell-free DNA from bladder neoplasm patients

Molecular and Cellular Probes
Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer.
Cuello Garcia Haider, Qichao Wang, Guangyue Wang, Yinfeng Wang, Yutong Fu, Zhoufan Zhang, Changling Cao, Fengcheng Xue, Haitao Liu, Qian Wang, Jie Zhou, Tingya Jiang, Jingyi Cao, Yang Zhou   +13 more
doaj   +1 more source

Ribosomal DNA copy number loss and sequence variation in cancer

PLOS Genetics, 2017
Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis.
Baoshan Xu, Hua Li, John M. Perry, Vijay Pratap Singh, Jay Unruh, Zulin Yu, Musinu Zakari, William McDowell, Linheng Li, Jennifer L. Gerton   +9 more
openaire   +4 more sources

CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing [PDF]

Genome Biology, 2017
AbstractHigh-throughput DNA sequencing enables detection of copy number variations (CNVs) on the genome-wide scale with finer resolution compared to array-based methods, but suffers from biases and artifacts that lead to false discoveries and low sensitivity.
Jiang, Yuchao, Wang, Rujin, Urrutia, Eugene, Anastopoulos, Ioannis N., Nathanson, Katherine L., Zhang, Nancy R.   +5 more
openaire   +3 more sources

Detection of erbB2 copy number variations in plasma of patients with esophageal carcinoma

BMC Cancer, 2011
Background Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage.
Iolascon Achille, Troncone Giancarlo, Gemei Marica, Montanaro Donatella, Capasso Mario, De Antonellis Pasqualino, Vecchione Loredana, Petrosino Giuseppe, Andolfo Immacolata, Orditura Michele, Ciardiello Fortunato, De Vita Fernando, Zollo Massimo   +12 more
doaj   +1 more source