Results 31 to 40 of about 106,656 (293)

Copy Number Variations Analysis Identifies QPRT as a Candidate Gene Associated With Susceptibility for Solitary Functioning Kidney

Frontiers in Genetics, 2021
BackgroundThe lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult.
Xiao Y. Zhou, Hao Y. Zheng, Li Han, Yan Wang, Li Zhang, Xiao M. Shu, Mu L. Zhang, Guan N. Liu, Lian S. Ding   +8 more
doaj   +1 more source

Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

BMC Genomics, 2010
Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Kim Hyung-Lae, Hong Eun-Jung, Ryu Gil-Mi, Nam Hye-Young, Shim Sung-Mi, Jeon Jae-Pil, Han Bok-Ghee   +6 more
doaj   +1 more source

Quantification of Plasmid Copy Number with Single Colour Droplet Digital PCR. [PDF]

PLoS ONE, 2017
Bacteria can be considered as biological nanofactories that manufacture a cornucopia of bioproducts most notably recombinant proteins. As such, they must perfectly match with appropriate plasmid vectors to ensure successful overexpression of target genes.
Magdalena Plotka, Mateusz Wozniak, Tadeusz Kaczorowski   +2 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, Carla Rosenberg, Peter L. Pearson, Carlos Augusto Pasqualucci, Lea T. Grinberg, Lea T. Grinberg, Claudia K. Suemoto, Renata Leite   +7 more
openaire   +6 more sources

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

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

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

Biomedical Journal, 2021
Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host-microbiome interactions.
Diana Rusnakova, Jan Radvanszky, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Zuzana Pös, Bálint Nagy, Tomáš Szemes, Ondrej Pös   +8 more
openaire   +5 more sources

Mitochondrial DNA copy number variation in asthma risk, severity, and exacerbations

Journal of Allergy and Clinical Immunology, 2023
AbstractRationaleAlthough airway oxidative stress and inflammation are central to asthma pathogenesis, there is limited knowledge of the relationship of asthma risk, severity, or exacerbations to mitochondrial dysfunction, which is pivotal to oxidant generation and inflammation.ObjectivesWe investigated whether mitochondrial DNA copy number (mtDNA-CN ...
Weiling Xu, Yun Soo Hong, Bo Hu, Suzy Comhair, Allison J. Janocha, Joe Zein, Ruoying Chen, Deborah A. Meyers, David T. Mauger, Victor E. Ortega, Eugene R. Bleecker, Mario Castro, Loren C. Denlinger, John V. Fahy, Elliot Israel, Bruce D. Levy, Nizar N. Jarjour, Wendy C. Moore, Sally E. Wenzel, Benjamin Gaston, Chunyu Liu, Dan E. Arking, Serpil C. Erzurum   +22 more
openalex   +5 more sources

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 ...
Mie Kubota-Sakashita, Satoshi Fuke, Yasufumi Shigeyoshi, Tadafumi Kato, Takaoki Kasahara   +4 more
openaire   +3 more sources