Results 61 to 70 of about 289,756 (330)

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 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 ...
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

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. [PDF]

, 2017
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis.
Assié, Guillaume, Balsalobre, Aurelio, Bertherat, Jérôme, Chittiboina, Prashant, Dimopoulos, Aggeliki, Drouin, Jacques, Faucz, Fabio R, Gaillard, Stephan, Gam, Ryhem, Gauthier, Yves, Hernández-Ramírez, Laura C, Kay, Denise M, Lane, John, Lodish, Maya B, Mills, James L, Neou, Mario, Pankratz, Nathan, Stratakis, Constantine A, Trivellin, Giampaolo, Valdés, Nuria, Villa, Chiara   +20 more
core   +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

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

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Stem-Like Adaptive Aneuploidy and Cancer Quasispecies [PDF]

, 2013
We analyze and reinterpret experimental evidence from the literature to argue for an ability of tumor cells to self-regulate their aneuploidy rate. We conjecture that this ability is mediated by a diversification factor that exploits molecular mechanisms
Napoletani, Domenico, Signore, Michele, Struppa, Daniele C.   +2 more
core   +4 more sources

Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer

FEBS Letters, EarlyView.
Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani, Noemi E. Nwosu, Viktoria Gocke, Müge Kasanmascheff, Hannes Mutschler   +4 more
wiley   +1 more source

An Integrated Approach for RNA-seq Data Normalization

Cancer Informatics, 2016
Background DNA copy number alteration is common in many cancers. Studies have shown that insertion or deletion of DNA sequences can directly alter gene expression, and significant correlation exists between DNA copy number and gene expression.
Shengping Yang, Donald E. Mercante, Kun Zhang, Zhide Fang   +3 more
doaj   +1 more source