Results 91 to 100 of about 288,493 (295)

Simple binary segmentation frameworks for identifying variation in DNA copy number [PDF]

BMC Bioinformatics, 2012
Variation in DNA copy number, due to gains and losses of chromosome segments, is common. A first step for analyzing DNA copy number data is to identify amplified or deleted regions in individuals. To locate such regions, we propose a circular binary segmentation procedure, which is based on a sequence of nested hypothesis tests, each using the Bayesian
openaire   +3 more sources

Germline DNA copy number variation in familial and early-onset breast cancer [PDF]

Breast Cancer Research, 2012
Abstract Introduction Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as ...
Krepischi, Ana CV, Achatz, Maria Isabel W, Santos, Erika MM, Costa, Silvia S, Lisboa, Bianca CG, Brentani, Helena, Santos, Tiago M, Gonçalves, Amanda, Nóbrega, Amanda F, Pearson, Peter L, Vianna-Morgante, Angela M, Carraro, Dirce M, Brentani, Ricardo R, Rosenberg, Carla   +13 more
openaire   +2 more sources

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

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Dammarenediol II enhances etoposide‐induced apoptosis by targeting O‐GlcNAc transferase and Akt/GSK3β/mTOR signaling in liver cancer

Molecular Oncology, EarlyView.
Etoposide induces DNA damage, activating p53‐dependent apoptosis via caspase‐3/7, which cleaves PARP1. Dammarenediol II enhances this apoptotic pathway by suppressing O‐GlcNAc transferase activity, further decreasing O‐GlcNAcylation. The reduction in O‐GlcNAc levels boosts p53‐driven apoptosis and influences the Akt/GSK3β/mTOR signaling pathway ...
Jaehoon Lee, Byung‐Cheol Han, Gi‐Bang Koo, Jihye Park, Mijin Kwon, Young Bin Park, Jae‐Mun Choi, Seung‐Ho Lee, Sangho Roh   +8 more
wiley   +1 more source

Genomic Diversification, Structural Plasticity, and Hybridization in Leishmania (Viannia) braziliensis

Frontiers in Cellular and Infection Microbiology, 2020
Leishmania (Viannia) braziliensis is an important Leishmania species circulating in several Central and South American countries. Among Leishmania species circulating in Brazil, Argentina and Colombia, L. braziliensis has the highest genomic variability.
Luz H. Patino, Marina Muñoz, Lissa Cruz-Saavedra, Carlos Muskus, Juan David Ramírez   +4 more
doaj   +1 more source

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +4 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Identification and characterization of copy number variations (CNVs) in dengue patients and its impact with vascular leakage / Zuraihan Zakaria [PDF]

, 2016
Dengue fever is a mosquito-borne tropical disease caused by dengue virus. When infected by any of the four serotypes of dengue viruses, individuals may be asymptomatic or develop a dengue fever.
Zakaria, Zuraihan
core  

Whole genome analysis of a wine yeast strain [PDF]

, 2001
Saccharomyces cerevisiae strains frequently exhibit rather specific phenotypic features needed for adaptation to a special environment. Wine yeast strains are able to ferment musts, for example, while other industrial or laboratory strains fail to do so.
Adams, Bakalinsky, Beissbarth, Bidenne, Boeke, Brachman, Carlson, Cavalieri, Codón, Cox, DeRisi, Galitski, Goffeau, Goto-Yamamoto, Guijo, Hauser, Hoffman, Holstege, Hughes, Jelinsky, Jordan, José E. Pérez-Ortín, Jörg D. Hoheisel, Kunkee, Kurt Fellenberg, Liu, Liu, Masneuf, Naumov, Naumov, Naumov, Ness, Nicole C. Hauser, Park, Pretorius, Puig, Puig, Puig, Querol, Querol, Rachidi, Rosario Gil, Sambrook, Sancho, Sherman, Sonja Bastuck, Ter, Wodicka, Woolford, Zhao   +49 more
core   +3 more sources