Results 261 to 270 of about 92,178 (328)

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. [PDF]

Hum Genet, 2018
Schilit SLP, Morton CC.
europepmc   +1 more source

Several fusion genes identified by whole transcriptome sequencing in a spindle cell sarcoma with rearrangements of chromosome arm 12q and MDM2 amplification

, 2014
Ioannis Panagopoulos, Bodil Bjerkehagen, Ludmila Gorunova, JEANE-MARIE BERNER, Kjetil Boye, SVERE HEIM   +5 more
openalex   +2 more sources

The impact of scaRNA12 deregulation on p53‐mediated cellular stress response in B‐cell precursor acute lymphoblastic leukaemia

British Journal of Haematology, EarlyView.
Summary Small nucleolar ribonucleic acids (snoRNAs) are a class of small non‐coding RNAs involved in the post‐transcriptional modification of ribosomal RNAs (rRNA) and small nuclear RNAs (snRNA). Mounting evidence indicates that specific snoRNAs are drivers of oncogenesis, but their role in B‐cell precursor acute lymphoblastic leukaemia (BCP‐ALL) is ...
Martijn W. C. Verbeek, Mathijs A. Sanders, Dwin G. B. Grashof, Remco M. Hoogenboezem, Iris van Zuijen, Annemarieke Bos, Trui van Gulck, Rosan Olsman, Rishov Mukhopadhyay, Eric M. J. Bindels, Peter J. M. Valk, Harmen J. G. van de Werken, Vincent H. J. van der Velden, Stefan J. Erkeland   +13 more
wiley   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

Complex human chromosomal and genomic rearrangements

, 2009
Feng Zhang, Claudia M.B. Carvalho, James R. Lupski   +2 more
openalex   +1 more source

Exposure to galactic cosmic radiation compromises DNA repair and increases the potential for oncogenic chromosomal rearrangement in bronchial epithelial cells. [PDF]

Sci Rep, 2018
Li Z, Jella KK, Jaafar L, Li S, Park S, Story MD, Wang H, Wang Y, Dynan WS.   +8 more
europepmc   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

High-Throughput Analysis of DNA Break-Induced Chromosome Rearrangements by Amplicon Sequencing

, 2018
Alexander J. Brown, Aneesa T. Al-Soodani, Miles Saul, Stephanie C. Her, Juan Carvajal-Garcia, Dale A. Ramsden, Chengtao Her, Steven A. Roberts   +7 more
openalex   +2 more sources

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

System level network data and models attack cancer drug resistance

British Journal of Pharmacology, EarlyView.
Drug resistance is responsible for >90% of cancer related deaths. Cancer drug resistance is a system level network phenomenon covering the entire cell. Small‐scale interactomes and signalling network models of drug resistance guide directed drug development.
Márk Kerestély, Dávid Keresztes, Levente Szarka, Borbála M. Kovács, Klára Schulc, Dániel V. Veres, Peter Csermely   +6 more
wiley   +1 more source