Results 121 to 130 of about 1,695,985 (356)

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Copy Number Variation in Forensic Science [PDF]

, 2014
Copy Number Variation (CNV) refers to duplication or deletion in the DNA sequence. Studying the pattern of these duplications or deletions can add value to forensic and population genetics.
Ilyas, Muhammad, Israr, Muhammad, Rahman, Ziaur   +2 more
core   +2 more sources

Editorial: Copy Number Variation in Rare Disorders

Frontiers in Genetics, 2022
Katalin Komlósi, Attila Gyenesei, Judit Bene   +2 more
doaj   +1 more source

Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi, Eric Feng, Nicholas R. Rydzewski, Amy K. Taylor, Jamie M. Sperger, Yue Shi, Kyle T. Helzer, Matthew L. Bootsma, Viridiana Carreno, Alex H. Chang, Luke A. Nunamaker, Grace C. Blitzer, Tianfu Andy Shang, Aishwarya Subramanian, Anders Bjartell, Andreas Josefsson, Pernilla Wikström, Emily Feng, Manish Kohli, Rendong Yang, Scott M. Dehm, Eric J. Small, Rahul Aggarwal, David A. Quigley, Joshua M. Lang, Shuang G. Zhao, Martin Sjöström   +26 more
wiley   +1 more source

Copy-number-variation and copy-number-alteration region detection by cumulative plots [PDF]

, 2009
Background: Regions with copy number variations (in germline cells) or copy number alteration (in somatic cells) are of great interest for human disease gene mapping and cancer studies. They represent a new type of mutation and are larger-scaled than the
A Grigoriev, A Kallioniemi, A Ulgen, Annette Lee, B Xu, C Barnes, C Berthelsen, C Melodelima, C Zhang, CK Peng, CR Marshall, D Botstein, D Peiffer, DA Peiffer, E Eichler, G Wilson, H Döhner, J Fickett, J Freeman, J Fridlyand, J Gibson, J Huang, J Lupski, J Ott, J Sebat, J Simon-Sanchez, JR Vermeesch, K Wang, LA Weiss, M Lin, N Carter, N Chiorazzi, N Rosenberg, P Bernaola-Galván, P Cahan, P Szatmari, Peter K Gregersen, R Beroukhim, R Zhang, S Colella, S Sutrala, T Lencz, T Walsh, TL Newman, W Li, W Li, W Li, W Li, Wentian Li, X Zhao, Y Nannya   +50 more
core   +3 more sources

Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours

Genome Biology, 2017
Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, is troublesome, which is particularly ...
L. Harewood, L. Harewood, K. Kishore, M. Eldridge, S. Wingett, D. Pearson, S. Schoenfelder, V. Collins, P. Fraser   +8 more
semanticscholar   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

A backward procedure for change-point detection with applications to copy number variation detection

, 2019
Change-point detection regains much attention recently for analyzing array or sequencing data for copy number variation (CNV) detection. In such applications, the true signals are typically very short and buried in the long data sequence, which makes it ...
Hao, Ning, Shin, Seung Jun, Wu, Yichao
core   +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

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

Biomedical Journal, 2021
Ondrej Pös, J. Radvánszky, Gergely Buglyó, Zuzana Pös, Diana Rusňáková, B. Nagy, T. Szemeš   +6 more
semanticscholar   +1 more source