Results 121 to 130 of about 1,217,732 (304)

Copy number variation in a hospital-based cohort of children with epilepsy [PDF]

, 2017
Objective: To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and susceptibility loci for epilepsy.
Brouwer, Oebele F, Callenbach, Petra M C, Dijkhuizen, Trijnie, Giannini, Lucia A A, Rump, Patrick, van Ravenswaaij-Arts, Conny M A, Vlaskamp, Danique R M   +6 more
core   +2 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

Research progress in copy number variation in ovarian cancer [PDF]

Xin yixue
Genetic variation is one of the important factors leading to the incidence and development of cancer. Copy number variation is an important source of genetic diversity， which can be expressed as gene amplification or deletion in structure， and is related
SUN Mengna, XU Ying, REN Chenlu, YAN Yufan, CHEN Zhihao, YANG Hong
doaj   +1 more source

Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]

, 2018
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena, Bernardini, Laura, Della Monica, Matteo, Ferrari, Daniela, Goldoni, Marina, Lamorte, Giuseppe, Mazzoccoli, Gianluigi, Postorivo, Diana, Rosati, Jessica, Tata, Ada Maria, Torres, Barbara, Turco, Elisa Maria, Vescovi, Angelo Luigi, Vinci, Ersilia   +13 more
core   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

MYC, FBXW7 and TP53 copy number variation and expression in Gastric Cancer [PDF]

, 2013
Background: MYC deregulation is a common event in gastric carcinogenesis, usually as a consequence of gene amplification, chromosomal translocations, or posttranslational mechanisms.
Assumpcao, Paulo Pimentel, Burbano, Rommel Rodriguez, Calcagno, Danielle Queiroz, Demachki, Samia, Freitas, Vanessa Morais, Khayat, Andre Salim, Leal, Mariana Ferreira, Montenegro, Raquel, Santos, Andrea Kely Campos Ribeiro dos, Smith, Marilia de Arruda Cardoso, Souza, Carolina Rosal Teixeira de   +10 more
core   +1 more source

Targeted modulation of IGFL2‐AS1 reveals its translational potential in cervical adenocarcinoma

Molecular Oncology, EarlyView.
Cervical adenocarcinoma patients face worse outcomes than squamous cell carcinoma counterparts despite similar treatment. The identification of IGFL2‐AS1's differential expression provides a molecular basis for distinguishing these histotypes, paving the way for personalized therapies and improved survival in vulnerable populations globally.
Ricardo Cesar Cintra, Lucca Paolo Hsu Helmich, Daniel Rodrigues de Bastos, Laura Sichero, Patrícia Savio de Araujo‐Souza, Fabio Passetti, Luisa Lina Villa   +6 more
wiley   +1 more source

A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR

BioData Mining, 2011
Background Copy number variants are >1 kb genomic amplifications or deletions that can be identified using array platforms. However, arrays produce substantial background noise that contributes to high false discovery rates of variants.
Grayson Britney L, Aune Thomas M
doaj   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Rare copy number variation in autoimmune Addison’s disease

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +1 more source