Results 111 to 120 of about 288,493 (295)

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

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

Advances of nanopore direct sequencing technology and bioinformatics analysis for cell-free DNA detection and its clinical applications in cancer liquid biopsy

Frontiers in Molecular Biosciences
Cell-free DNA (cfDNA) containing cancer information has become a key biomarker for cancer liquid biopsy. Current next-generation sequencing (NGS) technology for cfDNA detection often fail to capture multiomics information, such as fragmentomics ...
Jiaxin Tan, Jiaxin Tan, Zetong Wu, Yunya Zhu, Biyuan Miao, Biyuan Miao, Daofeng Xu, Jia Gu, Maohong Hu, Pingping Xu, Shaogui Wan   +10 more
doaj   +1 more source

Absolute measurement of gene transcripts with Selfie-digital PCR

Scientific Reports, 2017
Absolute measurement of the number of RNA transcripts per gene is necessary to compare gene transcription among different tissues or experimental conditions and to assess transcription of genes that have a variable copy number per cell such as ...
Petar Podlesniy, Ramon Trullas
doaj   +1 more source

Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries [PDF]

, 2011
Background Variation within individual genomes ranges from single nucleotide polymorphisms (SNPs) to kilobase, and even megabase, sized structural variants (SVs), such as deletions, insertions, inversions, and more complex rearrangements.
Kerstens, H.H.D., Crooijmans, R.P.M.A., Dibbits, B.W., Vereijken, A., Okimoto, R., Groenen, M.A.M.   +5 more
core   +3 more sources

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

WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. [PDF]

, 2013
MotivationCopy number variations (CNVs) are a major source of genomic variability and are especially significant in cancer. Until recently microarray technologies have been used to characterize CNVs in genomes.
Ali, Johar, Arshadi, Niloofar, Beck, Tim, Holt, Carson, Jang, Gun Ho, Losic, Bojan, McPherson, John, Muthuswamy, Lakshmi B, Pai, Deepa, Syam, Sujata, Trinh, Quang, Zhao, Zhen   +11 more
core   +3 more sources

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

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Benchmarking strategies for CNV calling from whole genome bisulfite data in humans

Computational and Structural Biotechnology Journal
It’s important to dissect the relationship between copy number variations (CNVs) and DNA methylation, because both greatly change the dosages of genes and are responsible for diverse human cancers.
Shanghui Zhao, Dantong Xu, Jiali Cai, Qingpeng Shen, Mingran He, Xiangchun Pan, Yahui Gao, Jiaqi Li, Xiaolong Yuan   +8 more
doaj   +1 more source