Results 31 to 40 of about 122,389 (248)

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

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

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

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

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). CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits ...
Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg   +6 more
openaire   +5 more sources

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing

BMC Genomics, 2010
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart, Misura Kira, Chen Ronghua, Xie Tao, Bouzek Heather, Biery Matthew, Castle John C, Armour Christopher D, Johnson Jason M, Rohl Carol A, Raymond Christopher K   +10 more
doaj   +1 more source

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

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

Reconstructing DNA copy number by joint segmentation of multiple sequences

BMC Bioinformatics, 2012
Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang, Lange Kenneth, Sabatti Chiara   +2 more
doaj   +1 more source

Copy number analyses of DNA repair genes reveal the role of poly(ADP-ribose) polymerase (PARP) in tree longevity

iScience, 2021
Summary: Long-lived organisms are exposed to the risk of accumulating mutations due to DNA damage. Previous studies in animals have revealed the positive relationship between the copy number of DNA repair genes and longevity.
Yuta Aoyagi Blue, Junko Kusumi, Akiko Satake   +2 more
doaj   +1 more source