Results 51 to 60 of about 353,576 (232)

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell [PDF]

, 2013
Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage.
Chapman, Alec Randolph, Xie, Xiaoliang Sunney, Zong, Chenghang   +2 more
core   +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

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis [PDF]

, 2006
Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of submicroscopic DNA copy-number variations in health and disease.
Ad Geurts van Kessel, Bammler, Barnes, Barrett, Davies, de Vries, Diskin, Dominique Smeets, Feuk, Fiegler, Fridlyand, Friedman, Hsu, Huang, Iafrate, Irene M. Janssen, Irizarry, Ishkanian, Jayne Y. Hehir-Kwa, Johnson, Jonsson, Joris A. Veltman, Koolen, Krzywinski, Larkin, Loo, Michael Egmont-Petersen, Murphy, Nannya, Neyman, Olshen, Peiffer, Pinkel, Pinkel, Rickman, Roa, Sebat, Selzer, Sharp, Sharp, Shaw-Smith, Shaw-Smith, Siegel, Slater, Snijders, Speicher, van den Ijssel, Vissers, Vissers, Vissers, Wilcox, Wirtenberger   +51 more
core   +4 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

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +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

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

Mutations as Levy flights

, 2021
Data from a long time evolution experiment with Escherichia Coli and from a large study on copy number variations in subjects with european ancestry are analyzed in order to argue that mutations can be described as Levy flights in the mutation space ...
Gonzalez, Augusto, Leon, Dario
core  

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS):partial gene deletions contribute to APS I [PDF]

, 2008
Udgivelsesdato: MarAutoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear ...
Bruland, O, Bøe Wolff, A S, Husebye, E S, Johansson, S, Knappskog, P M, Løvås, K, Meager, A, Oftedal, B, Pedersen, Carsten   +8 more
core   +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